Ectodermal Dysplasia
Ectodermal Dysplasia 1, Anhidrotic
Hypohidrosis
Ectodysplasins
Anodontia
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Nails, Malformed
Edar Receptor
Xedar Receptor
Receptors, Ectodysplasin
Denture, Partial, Removable
Syndactyly
Ectodermal Dysplasia 3, Anhidrotic
Denture, Complete, Lower
Fibrous Dysplasia of Bone
Nail Diseases
Edar-Associated Death Domain Protein
Cleft Lip
Immunologic Deficiency Syndromes
Sweat Glands
Dentition
Genetic Diseases, X-Linked
Pedigree
Limb Deformities, Congenital
Bronchopulmonary Dysplasia
Abnormalities, Multiple
X Chromosome
Denture Design
Bone Diseases, Developmental
Keratins, Type II
Hair
Incontinentia Pigmenti
Keratoderma, Palmoplantar
Hyperpigmentation
Hand Deformities, Congenital
Ectromelia
I-kappa B Kinase
Photophobia
Ellis-Van Creveld Syndrome
Denture, Complete
Uterine Cervical Dysplasia
Mutation
Genetic Linkage
Fibromuscular Dysplasia
Denture, Partial
Fibrous Dysplasia, Polyostotic
Foot Deformities, Congenital
Hip Dysplasia, Canine
Cleidocranial Dysplasia
Phenotype
Retinal Dysplasia
Mutation, Missense
Sweating
Hip Dislocation, Congenital
Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation. (1/301)
Hair from mice bearing the dominantly inherited Naked trait (NN) and from normal (NN) mice of the same inbred strain was separated into its major protein components by standard techniques. The relative amounts of proteins in these components were then determined by a regression method from the amino acid composition of the hair samples and of the fractions into which they had been separated. The results indicated that the amount of soluble fibril in Naked-mouse hair is decreased. Polyacrylamide-gel electrophoresis of this fraction prepared from the hair of both normal and Naked mice revealed that all protein bands present in the normal are also present in the Naked mice. However, a densitometric scan of the gels at 280 nm showed that the soluble fibril fraction from Naked-mouse hair is deficient in several proteins which, on amino acid analysis, were found to contain 31% glycine and 10% tyrosine. Gel filtration of S-carboxymethylkerateine prepared from normal and mutant hair showed that the mutant hair is deficient in a heterogeneous, low-molecular-weight fraction also rich in glycine and tyrosine. Our present data do not reveal the mechanism whereby a single gene locus modulates the production of several different proteins. (+info)Johanson-Blizzard syndrome: a prenatal ultrasonographic diagnosis. (2/301)
Johanson-Blizzard syndrome is a rare autosomal recessive disorder characterized by aplasia of alae nasi, pancreatic insufficiency, aplasia cutis, anorectal anomalies and postnatal growth restriction. In this case report, we describe the prenatal sonographic findings of Johanson-Blizzard syndrome in a 21-week pregnancy of a consanguineous couple. Sonographic findings of aplastic alae nasi (beak-like nose) and dilated sigmoid colon led to the prenatal diagnosis. This is the first report of the prenatal sonographic diagnosis of Johanson-Blizzard syndrome. (+info)Functional characterization of the promoter of the X-linked ectodermal dysplasia gene. (3/301)
Anhidrotic ectodermal dysplasia (EDA) is a disorder characterized by poor development of hair, teeth, and sweat glands, and results from lesions in the X-linked EDA gene. We have cloned a 1.6-kilobase 5'-flanking region of the human EDA gene and used it to analyze features of transcriptional regulation. Primer extension analysis located a single transcription initiation site 264 base pairs (bp) upstream of the translation start site. When the intact cloned fragment or truncated derivatives were placed upstream of a reporter luciferase gene and transfected into a series of cultured cells, expression comparable with that conferred by an SV40 promoter-enhancer was observed. The region lacks a TATA box sequence, and basal transcription from the unique start site is dependent on two binding sites for the Sp1 transcription factor. One site lies 38 bp 5' to the transcription start site, in a 71-bp sequence that is sufficient to support up to 35% of maximal transcription. The functional importance of the Sp1 sites was demonstrated when cotransfection of an Sp1 expression vector transactivated the EDA promoter in the SL2 Drosophila cell line that otherwise lacks endogenous Sp1. Also, both Sp1 binding sites were active in footprinting and gel shift assays in the presence of either crude HeLa cell nuclear extract or purified Sp1 and lost activity when the binding sites were mutated. A second region involved in positive control was localized to a 40-bp sequence between -673 and -633 bp. This region activated an SV40 minimal promoter 4- to 5-fold in an orientation-independent manner and is thus inferred to contain an enhancer region. (+info)Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells. (4/301)
Anhidrotic ectodermal dysplasia (EDA) is a human genetic disorder of impaired ectodermal appendage development. The EDA gene encodes isoforms of a novel transmembrane protein, ectodysplasin. The sequence of the longest isoform includes an interrupted collagenous domain of 19 Gly-X-Y repeats and a motif conserved in the tumor necrosis factor (TNF)-related ligand family. In order to understand better the function of the ectodysplasin protein molecule and its domains, we have studied the processing and localization of wild-type and mutated isoforms in transfected human fetal kidney 293 and monkey kidney COS-1 cells. Similar to other members of collagenous membrane proteins and members of TNF-related ligands, ectodysplasin is a type II membrane protein and it forms trimers. The membrane localization of ectodysplasin is asymmetrical: it is found on the apical and lateral surfaces of the cells where it co-localizes with cytoskeletal structures. The TNF-like motif and cysteines found near the C-terminus are necessary for correct transport to the cell membrane, but the intracellular and collagenous domains are not required for the localization pattern. Our results suggest that ectodysplasin is a new member in the TNF-related ligand family involved in the early epithelial-mesenchymal interaction that regulates ectodermal appendage formation. (+info)Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. (5/301)
EEC syndrome is an autosomal dominant disorder characterized by ectrodactyly, ectodermal dysplasia, and facial clefts. We have mapped the genetic defect in several EEC syndrome families to a region of chromosome 3q27 previously implicated in the EEC-like disorder, limb mammary syndrome (LMS). Analysis of the p63 gene, a homolog of p53 located in the critical LMS/EEC interval, revealed heterozygous mutations in nine unrelated EEC families. Eight mutations result in amino acid substitutions that are predicted to abolish the DNA binding capacity of p63. The ninth is a frameshift mutation that affects the p63alpha, but not p63beta and p63gamma isotypes. Transactivation studies with these mutant p63 isotypes provide a molecular explanation for the dominant character of p63 mutations in EEC syndrome. (+info)Mutation report: identification of a germline mutation in keratin 17 in a family with pachyonychia congenita type 2. (6/301)
Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. It has been demonstrated that PC-2 is associated with germline mutations in the keratin 17 (K17) gene and in its expression partner keratin 6b. In this report, we describe a novel germline mutation in K17, M88T, in a family with PC-2. (+info)Keratin 17 expression in the hard epithelial context of the hair and nail, and its relevance for the pachyonychia congenita phenotype. (7/301)
The hard-keratin-containing portion of the murine hair shaft displays a positive immunoreactivity with an antibody against the soft epithelial keratin, K17. The K17-expressing cell population is located in the medulla compartment of the hair. Consistent with this observation, K17-containing cells also occur in the presumptive medulla precursor cells located in the hair follicle matrix. Western blot analysis of hair extracts prepared from a number of mouse strains confirms this observation and suggests that K17 expression in the hair shaft is a general trait in this species. The expression of K17 in human hair extracts is restricted to eyebrow and facial hair samples. These are the major sites for the occurrence of the pili torti (twisted hair) phenotype in the type 2 (Jackson-Lawler) form of pachyonychia congenita, previously shown to arise from inherited K17 mutations. Given that all forms of pachyonychia congenita show an involvement of the nail, we compared the expression of the two other genes mutated in pachyonychia congenita diseases, K6 and K16, with that of K17 in human nail. All three keratins are abundantly expressed within the nail bed epithelium, whereas K17 protein is expressed in the nail matrix, which contains the epithelial cell precursors for the nail plate. Our data suggest a role for K17 in the formation and maintenance of various skin appendages and directly support the concept that pachyonychia congenita is a disease of the nail bed. (+info)Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. (8/301)
HED is an autosomal dominant skin disorder that is particularly common in the French Canadian population of south-west Quebec. We previously mapped the HED gene to the pericentromeric region of chromosome 13q using linkage analysis in eight French Canadian families. In this study, we extend our genetic analysis to include a multiethnic group of 29 families with 10 polymorphic markers spanning 5.1 cM in the candidate region. Two-point linkage analysis strongly suggests absence of genetic heterogeneity in HED in four families of French, Spanish, African and Malaysian origins. Multipoint linkage analysis in all 29 families generated a peak lod score of 53.5 at D13S1835 with a 1 lod unit support interval spanning 1.8 cM. Recombination mapping placed the HED gene in a 2.4 cM region flanked by D13S1828 proximally and D13S1830 distally. We next show evidence for a strong founder effect in families of French Canadian origin thereby representing the first example of a founder disease in the south-west part of the province of Quebec. Significant association was found between HED in these families and all markers analysed (Fisher's exact test, P < 0.001). Complete allelic association was detected at D13S1828, D13S1827, D13S1835, D13S141 and D13S175 (P(excess) = 1) spanning 1.3 cM. A major haplotype including all 10 associated alleles was present on 65% of affected chromosomes. This haplotype most likely represents the founder haplotype that introduced the HED mutation into the French Canadian population. Luria-Delbruck equations and multipoint likelihood linkage disequilibrium analysis positioned the gene at the D13S1828 locus (likely range estimate: 1.75 cM) and 0.58 cM telomeric to this marker (support interval: 3.27 cM) respectively. (+info)Ectodermal dysplasia (ED) is a group of genetic disorders that affect the development and formation of ectodermal tissues, which include the skin, hair, nails, teeth, and sweat glands. The condition is usually present at birth or appears in early infancy.
The symptoms of ED can vary widely depending on the specific type and severity of the disorder. Common features may include:
* Sparse or absent hair
* Thin, wrinkled, or rough skin
* Abnormal or missing teeth
* Nail abnormalities
* Absent or reduced sweat glands, leading to heat intolerance and problems regulating body temperature
* Ear abnormalities, which can result in hearing loss
* Eye abnormalities
ED is caused by mutations in genes that are involved in the development of ectodermal tissues. Most cases of ED are inherited in an autosomal dominant or autosomal recessive pattern, meaning that a child can inherit the disorder even if only one parent (dominant) or both parents (recessive) carry the mutated gene.
There is no cure for ED, but treatment is focused on managing the symptoms and improving quality of life. This may include measures to maintain body temperature, such as cooling vests or frequent cool baths; dental treatments to replace missing teeth; hearing aids for hearing loss; and skin care regimens to prevent dryness and irritation.
Ectodermal dysplasia 1, anhidrotic (EDA) is a genetic disorder that primarily affects the development of structures derived from the ectodermal layer of the embryo. The ectoderm is one of the three germ layers that form during embryonic development and gives rise to the skin, hair, nails, teeth, and sweat glands, among other structures.
The term "anhidrotic" in EDA refers to the absence or reduced function of sweat glands (hypohidrosis or anhidrosis), which can lead to overheating and difficulty regulating body temperature. This is a key feature of this form of ectodermal dysplasia.
EDA is caused by mutations in the EDA gene, which provides instructions for making a protein called ectodysplasin A. This protein plays a crucial role in the development of ectodermal structures, particularly during early embryonic stages. Mutations in the EDA gene can lead to abnormal development and function of these structures, resulting in the symptoms associated with EDA.
Some common features of EDA include:
1. Absent or sparse hair (hypotrichosis)
2. Abnormal or missing teeth (oligodontia)
3. Absent or reduced sweat glands (anhidrosis or hypohidrosis)
4. Characteristic facial features, such as a prominent forehead, thick eyebrows, and a saddle nose
5. Dry, rough, or thin skin
6. Nail abnormalities
EDA is typically inherited in an X-linked recessive pattern, meaning that males are more likely to be affected than females. Females who carry the mutated gene can also show milder symptoms of the disorder. There is no cure for EDA, but various treatments and management strategies can help alleviate symptoms and improve quality of life.
Hypohidrosis is a medical condition characterized by reduced or absent sweating. It's the opposite of hyperhidrosis, which is excessive sweating. Sweating is an essential function that helps regulate body temperature through the evaporation of sweat on the skin surface. When this process is impaired due to hypohidrosis, it can lead to difficulties in maintaining a normal body temperature, especially during physical exertion or in hot environments.
Hypohidrosis may be localized, affecting only certain areas of the body, or generalized, affecting the entire body. The causes of hypohidrosis are varied and include genetic factors, nerve damage, skin disorders, dehydration, burns, or the use of certain medications. Depending on its underlying cause, hypohidrosis can be managed through appropriate treatments, such as addressing nerve damage, managing skin conditions, or adjusting medication usage.
Ectodysplasins are a group of signaling proteins that play crucial roles in the development and differentiation of ectodermal tissues, including the skin, hair, nails, teeth, and sweat glands. They are involved in various signaling pathways and help regulate cell growth, migration, and pattern formation during embryogenesis. Mutations in genes encoding ectodysplasins can lead to genetic disorders characterized by abnormalities in these tissues, such as ectodermal dysplasia syndromes.
Anodontia is a medical term that refers to the congenital absence or lack of development of all primary (deciduous) and/or permanent teeth. It is a rare dental condition that affects tooth development and can be isolated or associated with various syndromes and genetic disorders.
In anodontia, the dental tissues responsible for forming teeth, including the dental lamina, dental papilla, and dental follicle, fail to develop properly, resulting in missing teeth. The condition can affect all teeth or only some of them, leading to partial anodontia.
Anodontia is different from hypodontia, which refers to the congenital absence of one or more, but not all, teeth. It is also distinct from oligodontia, which is the absence of six or more permanent teeth, excluding third molars (wisdom teeth).
People with anodontia may experience difficulties in chewing, speaking, and maintaining oral hygiene, leading to various dental and social problems. Prosthodontic treatments, such as dentures or implants, are often necessary to restore oral function and aesthetics.
Hypohidrotic ectodermal dysplasia is a genetic disorder that affects the development of structures derived from the ectoderm, which is one of the three germ layers in the embryo. The condition is characterized by abnormalities in the hair, teeth, nails, and sweat glands.
The autosomal recessive form of hypohidrotic ectodermal dysplasia is caused by mutations in the EDAR, EDARADD, or WNT10A genes, which are involved in the development and function of the sweat glands. The condition occurs when an individual inherits two copies of the mutated gene, one from each parent.
Individuals with autosomal recessive hypohidrotic ectodermal dysplasia typically have sparse or absent hair, thin eyebrows and eyelashes, and abnormal or missing teeth. They may also have dry, scaly skin due to a reduced number of sweat glands, which can lead to overheating and difficulty regulating body temperature. In severe cases, the condition can be life-threatening in hot climates or during illnesses that cause fever.
Other features of autosomal recessive hypohidrotic ectodermal dysplasia may include a prominent forehead, thick lips, and a saddle nose. Some individuals may also have hearing loss, eye abnormalities, or respiratory infections due to structural abnormalities in the ears and nasal passages.
Treatment for autosomal recessive hypohidrotic ectodermal dysplasia typically involves managing symptoms and addressing complications as they arise. This may include dental treatments, skin care regimens, and measures to prevent overheating such as cooling vests or air conditioning. In some cases, genetic counseling may be recommended for affected individuals and their families.
Medical definitions of "malformed nails" may vary, but generally, it refers to a condition where the nails are abnormally formed or shaped. This can include various deformities such as:
1. Koilonychia: Also known as "spoon nails," where the nails appear scooped out and concave.
2. Pterygium: A condition where skin grows over the nail, causing it to adhere to the finger.
3. Onychogryphosis: Also known as "ram's horn nails," where the nails become thick, curved, and overgrown.
4. Brachyonychia: Shortened nails that do not grow normally.
5. Onychauxis: Thickening of the nails.
6. Leukonychia: White spots or lines on the nails.
7. Beau's lines: Indentations across the nails, often caused by a previous illness or injury.
8. Pitting: Small depressions or holes in the nails.
9. Cracking or splitting of the nails.
These nail abnormalities can be caused by various factors such as genetics, fungal infections, trauma, nutritional deficiencies, and underlying medical conditions.
Tooth abnormalities refer to any variations or irregularities in the size, shape, number, structure, or development of teeth that deviate from the typical or normal anatomy. These abnormalities can occur in primary (deciduous) or permanent teeth and can be caused by genetic factors, environmental influences, systemic diseases, or localized dental conditions during tooth formation.
Some examples of tooth abnormalities include:
1. Microdontia - teeth that are smaller than normal in size.
2. Macrodontia - teeth that are larger than normal in size.
3. Peg-shaped teeth - teeth with a narrow, conical shape.
4. Talon cusps - additional cusps or points on the biting surface of a tooth.
5. Dens invaginatus - an abnormal development where the tooth crown has an extra fold or pouch that can trap bacteria and cause dental problems.
6. Taurodontism - teeth with large pulp chambers and short roots.
7. Supernumerary teeth - having more teeth than the typical number (20 primary and 32 permanent teeth).
8. Hypodontia - missing one or more teeth due to a failure of development.
9. Germination - two adjacent teeth fused together, usually occurring in the front teeth.
10. Fusion - two separate teeth that have grown together during development.
Tooth abnormalities may not always require treatment unless they cause functional, aesthetic, or dental health issues. A dentist can diagnose and manage tooth abnormalities through various treatments, such as fillings, extractions, orthodontic care, or restorative procedures.
The EDA receptor (Ectodysplasin A receptor) is a gene that encodes a transmembrane protein involved in the development and maintenance of various tissues, including the skin and hair follicles. The Edar receptor plays a crucial role in the signaling pathway that regulates the formation and patterning of these structures during embryonic development. Mutations in this gene have been associated with several human genetic disorders, such as ectodermal dysplasia, which is characterized by abnormalities in the hair, teeth, nails, and sweat glands.
Hypotrichosis is a medical term that refers to a condition characterized by an abnormal lack or sparseness of hair growth. This can apply to the eyebrows, eyelashes, or scalp hair. It's important to note that this is not a complete loss of hair, but rather a significant reduction in hair density. The onset and severity can vary greatly, and it can be inherited or acquired later in life due to various factors such as diseases, burns, or certain medications.
I'm sorry for any confusion, but "Xedar Receptor" is not a recognized term in physiology or pharmacology. It seems like there might be a spelling error or typo in the receptor name you are looking for. Xedar is not a known drug or receptor.
If you meant "Xadagno/Dopamine Receptor," I can provide information on that. Xadago (generic name: safinamide) is a medication used to treat Parkinson's disease, and it acts as a dopamine reuptake inhibitor and a non-selective MAO-B inhibitor. The drug's primary mechanism of action involves increasing the concentration of dopamine in the brain by preventing its reuptake into presynaptic neurons and blocking monoamine oxidase B, which is responsible for breaking down dopamine.
If you had a different term or concept in mind, please provide clarification, and I will be happy to help further.
Ectodysplasin receptors are a group of proteins that belong to the tumor necrosis factor (TNF) receptor superfamily. They play crucial roles in the development and function of ectodermal tissues, which include the skin, hair, nails, teeth, and sweat glands.
There are two main types of Ectodysplasin receptors: EDAR (Ectodysplasin A Receptor) and XEDAR (X-linked Ectodysplasin A Receptor). These receptors bind to their respective ligands, Ectodysplasin A (EDA) and Ectodysplasin A2 (EDA2), which are also members of the TNF family.
When EDA or EDA2 binds to EDAR or XEDAR, it activates a signaling pathway that involves several downstream molecules, including TRAF6 (TNF Receptor-Associated Factor 6) and NF-κB (Nuclear Factor kappa-light-chain-enhancer of activated B cells). This signaling cascade ultimately leads to the regulation of gene expression and cellular responses that are essential for ectodermal development.
Mutations in the genes encoding EDA, EDAR, or XEDAR have been associated with various genetic disorders, such as ectodermal dysplasias, which are characterized by abnormalities in the development of ectodermal tissues.
A partial denture, removable is a type of dental prosthesis used when one or more natural teeth remain in the upper or lower jaw. It is designed to replace the missing teeth and rest on the remaining teeth and gums for support. This type of denture can be removed by the patient for cleaning and while sleeping. It is typically made of acrylic resin, metal, or a combination of both, and is custom-fabricated to fit the individual's mouth for comfort and functionality.
Syndactyly is a congenital condition where two or more digits (fingers or toes) are fused together. It can occur in either the hand or foot, and it can involve fingers or toes on both sides of the hand or foot. The fusion can be partial, where only the skin is connected, or complete, where the bones are also connected. Syndactyly is usually noticed at birth and can be associated with other genetic conditions or syndromes. Surgical intervention may be required to separate the digits and improve function and appearance.
Ectodermal Dysplasia 3, Anhidrotic (EDA3) is a genetic disorder that affects the development of structures derived from the ectoderm, which is one of the three germ layers in the embryo. The condition is caused by mutations in the TP63 gene and is characterized by abnormalities in structures such as hair, nails, teeth, and sweat glands.
The term "anhidrotic" refers to the absence or reduced function of sweat glands, which can lead to overheating and difficulty regulating body temperature. Other features of EDA3 may include sparse or absent hair, abnormal or missing teeth, and ridged or thickened nails. In some cases, individuals with EDA3 may also have skin abnormalities such as dryness, scaling, or blistering.
EDA3 is inherited in an autosomal dominant manner, which means that a person has a 50% chance of inheriting the condition if one of their parents is affected. However, some cases of EDA3 may occur spontaneously due to new mutations in the TP63 gene. Treatment for EDA3 typically focuses on managing its symptoms and may include measures such as cooling vests or other devices to help regulate body temperature, dental treatments to address abnormalities in teeth, and skin care to manage dryness or other skin abnormalities.
A complete lower denture is a removable dental appliance that replaces all of the natural teeth in the lower jaw. It is typically made of plastic or a combination of plastic and metal, and it rests on the gums and bones of the lower jaw. The denture is designed to look and function like natural teeth, allowing the individual to speak, chew, and smile confidently. Complete lower dentures are custom-made for each patient to ensure a comfortable and secure fit.
Fibrous Dysplasia of Bone is a rare, benign bone disorder that is characterized by the replacement of normal bone tissue with fibrous (scar-like) and immature bone tissue. This results in weakened bones that are prone to fractures, deformities, and pain. The condition can affect any bone in the body but most commonly involves the long bones of the legs, arms, and skull. It can occur as an isolated finding or as part of a genetic disorder called McCune-Albright syndrome. The exact cause of fibrous dysplasia is not fully understood, but it is believed to result from a genetic mutation that occurs during early bone development. There is no cure for fibrous dysplasia, and treatment typically focuses on managing symptoms and preventing complications.
Nail diseases, also known as onychopathies, refer to a group of medical conditions that affect the nail unit, which includes the nail plate, nail bed, lunula, and surrounding skin (nail fold). These diseases can be caused by various factors such as fungal infections, bacterial infections, viral infections, systemic diseases, trauma, and neoplasms.
Some common examples of nail diseases include:
1. Onychomycosis - a fungal infection that affects the nail plate and bed, causing discoloration, thickening, and crumbling of the nail.
2. Paronychia - an infection or inflammation of the nail fold, caused by bacteria or fungi, resulting in redness, swelling, and pain.
3. Ingrown toenails - a condition where the nail plate grows into the surrounding skin, causing pain, redness, and infection.
4. Onycholysis - a separation of the nail plate from the nail bed, often caused by trauma or underlying medical conditions.
5. Psoriasis - a systemic disease that can affect the nails, causing pitting, ridging, discoloration, and onycholysis.
6. Lichen planus - an inflammatory condition that can affect the skin and nails, causing nail thinning, ridging, and loss.
7. Melanonychia - a darkening of the nail plate due to pigmentation, which can be benign or malignant.
8. Brittle nails - a condition characterized by weak, thin, and fragile nails that easily break or split.
9. Subungual hematoma - a collection of blood under the nail plate, often caused by trauma, resulting in discoloration and pain.
10. Tumors - abnormal growths that can develop in or around the nail unit, ranging from benign to malignant.
Accurate diagnosis and treatment of nail diseases require a thorough examination and sometimes laboratory tests, such as fungal cultures or skin biopsies. Treatment options vary depending on the underlying cause and may include topical or oral medications, surgical intervention, or lifestyle modifications.
Edar-associated death domain protein (EDARADD) is a gene that encodes for a protein involved in the signaling pathway of the ectodysplasin A receptor (EDAR). The EDAR signaling pathway plays crucial roles in the development of various organs, including skin, hair, teeth, and sweat glands.
The EDARADD protein contains a death domain that interacts with the death domain of EDAR upon activation by ectodysplasin A (EDA). This interaction leads to the recruitment of additional signaling proteins and ultimately activates downstream targets, which regulate cellular processes such as proliferation, differentiation, and apoptosis.
Mutations in the EDARADD gene have been associated with several human genetic disorders, including ectodermal dysplasias, hypohidrotic ectodermal dysplasia (HED), and an autosomal recessive form of cleft lip/palate. These conditions are characterized by abnormalities in the development of structures derived from the ectoderm, such as skin, hair, teeth, nails, and sweat glands.
Cleft lip is a congenital birth defect that affects the upper lip, causing it to develop incompletely or split. This results in an opening or gap in the lip, which can range from a small split to a significant separation that extends into the nose. Cleft lip is often accompanied by cleft palate, which is a similar condition affecting the roof of the mouth.
The medical definition of cleft lip is as follows:
A congenital deformity resulting from failure of fusion of the maxillary and medial nasal processes during embryonic development, leading to a varying degree of separation or split in the upper lip, ranging from a minor notch to a complete cleft extending into the nose. It may occur as an isolated anomaly or in association with other congenital defects, such as cleft palate.
Cleft lip can be surgically corrected through various reconstructive procedures, typically performed during infancy or early childhood. The specific treatment plan depends on the severity and location of the cleft, as well as any associated medical conditions. Early intervention and comprehensive care from a multidisciplinary team of healthcare professionals are crucial for optimal outcomes in cleft lip repair.
Immunologic deficiency syndromes refer to a group of disorders characterized by defective functioning of the immune system, leading to increased susceptibility to infections and malignancies. These deficiencies can be primary (genetic or congenital) or secondary (acquired due to environmental factors, medications, or diseases).
Primary immunodeficiency syndromes (PIDS) are caused by inherited genetic mutations that affect the development and function of immune cells, such as T cells, B cells, and phagocytes. Examples include severe combined immunodeficiency (SCID), common variable immunodeficiency (CVID), Wiskott-Aldrich syndrome, and X-linked agammaglobulinemia.
Secondary immunodeficiency syndromes can result from various factors, including:
1. HIV/AIDS: Human Immunodeficiency Virus infection leads to the depletion of CD4+ T cells, causing profound immune dysfunction and increased vulnerability to opportunistic infections and malignancies.
2. Medications: Certain medications, such as chemotherapy, immunosuppressive drugs, and long-term corticosteroid use, can impair immune function and increase infection risk.
3. Malnutrition: Deficiencies in essential nutrients like protein, vitamins, and minerals can weaken the immune system and make individuals more susceptible to infections.
4. Aging: The immune system naturally declines with age, leading to an increased incidence of infections and poorer vaccine responses in older adults.
5. Other medical conditions: Chronic diseases such as diabetes, cancer, and chronic kidney or liver disease can also compromise the immune system and contribute to immunodeficiency syndromes.
Immunologic deficiency syndromes require appropriate diagnosis and management strategies, which may include antimicrobial therapy, immunoglobulin replacement, hematopoietic stem cell transplantation, or targeted treatments for the underlying cause.
Mouth abnormalities, also known as oral or orofacial anomalies, refer to structural or functional differences or defects in the mouth and surrounding structures, including the lips, teeth, gums, palate, tongue, and salivary glands. These abnormalities can be present at birth (congenital) or acquired later in life due to injury, disease, or surgery. They can range from minor variations in size, shape, or position of oral structures to more significant anomalies that may affect speech, swallowing, chewing, breathing, and overall quality of life.
Examples of mouth abnormalities include cleft lip and palate, macroglossia (enlarged tongue), microglossia (small tongue), ankyloglossia (tongue-tie), high or narrow palate, bifid uvula (split uvula), dental malocclusion (misaligned teeth), supernumerary teeth (extra teeth), missing teeth, and various oral tumors or cysts. Some mouth abnormalities may require medical intervention, such as surgery, orthodontic treatment, or speech therapy, while others may not necessitate any treatment.
Sweat glands are specialized tubular structures in the skin that produce and secrete sweat, also known as perspiration. They are part of the body's thermoregulatory system, helping to maintain optimal body temperature by releasing water and heat through evaporation. There are two main types of sweat glands: eccrine and apocrine.
1. Eccrine sweat glands: These are distributed throughout the body, with a higher concentration on areas like the palms, soles, and forehead. They are responsible for producing a watery, odorless sweat that primarily helps to cool down the body through evaporation.
2. Apocrine sweat glands: These are mainly found in the axillary (armpit) region and around the anogenital area. They become active during puberty and produce a thick, milky fluid that does not have a strong odor on its own but can mix with bacteria on the skin's surface, leading to body odor.
Sweat glands are controlled by the autonomic nervous system, meaning they function involuntarily in response to various stimuli such as emotions, physical activity, or changes in environmental temperature.
Dentition refers to the development, arrangement, and appearance of teeth in the dental arch. It includes the number, type, size, and shape of teeth, as well as their alignment and relationship with each other and the surrounding structures in the oral cavity. Dentition can be classified into two main types: deciduous (primary) dentition and permanent (secondary) dentition. Deciduous dentition consists of 20 temporary teeth that erupt during infancy and childhood, while permanent dentition consists of 32 teeth that replace the deciduous teeth and last for a lifetime, excluding the wisdom teeth which may or may not erupt. Abnormalities in dentition can indicate various dental and systemic conditions, making it an essential aspect of oral health assessment and diagnosis.
A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.
For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.
It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.
X-linked genetic diseases refer to a group of disorders caused by mutations in genes located on the X chromosome. These conditions primarily affect males since they have only one X chromosome and therefore don't have a second normal copy of the gene to compensate for the mutated one. Females, who have two X chromosomes, are typically less affected because they usually have one normal copy of the gene on their other X chromosome.
Examples of X-linked genetic diseases include Duchenne and Becker muscular dystrophy, hemophilia A and B, color blindness, and fragile X syndrome. Symptoms and severity can vary widely depending on the specific condition and the nature of the genetic mutation involved. Treatment options depend on the particular disease but may include physical therapy, medication, or in some cases, gene therapy.
I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.
Congenital limb deformities refer to abnormalities in the structure, position, or function of the arms or legs that are present at birth. These deformities can vary greatly in severity and may affect any part of the limb, including the bones, muscles, joints, and nerves.
Congenital limb deformities can be caused by genetic factors, exposure to certain medications or chemicals during pregnancy, or other environmental factors. Some common types of congenital limb deformities include:
1. Clubfoot: A condition in which the foot is twisted out of shape, making it difficult to walk normally.
2. Polydactyly: A condition in which a person is born with extra fingers or toes.
3. Radial clubhand: A rare condition in which the radius bone in the forearm is missing or underdeveloped, causing the hand to turn inward and the wrist to bend.
4. Amniotic band syndrome: A condition in which strands of the amniotic sac wrap around a developing limb, restricting its growth and leading to deformities.
5. Agenesis: A condition in which a limb or part of a limb is missing at birth.
Treatment for congenital limb deformities may include surgery, bracing, physical therapy, or other interventions depending on the severity and nature of the deformity. In some cases, early intervention and treatment can help to improve function and reduce the impact of the deformity on a person's daily life.
Bronchopulmonary dysplasia (BPD) is a chronic lung disease that primarily affects premature infants. It is defined as the need for supplemental oxygen at 28 days of life or beyond, due to abnormal development and injury to the lungs.
The condition was first described in the 1960s, following the introduction of mechanical ventilation and high concentrations of oxygen therapy for premature infants with respiratory distress syndrome (RDS). These treatments, while lifesaving, can also cause damage to the delicate lung tissue, leading to BPD.
The pathogenesis of BPD is complex and involves an interplay between genetic factors, prenatal exposures, and postnatal injury from mechanical ventilation and oxygen toxicity. Inflammation, oxidative stress, and impaired lung development contribute to the development of BPD.
Infants with BPD typically have abnormalities in their airways, alveoli (air sacs), and blood vessels in the lungs. These changes can lead to symptoms such as difficulty breathing, wheezing, coughing, and poor growth. Treatment may include oxygen therapy, bronchodilators, corticosteroids, diuretics, and other medications to support lung function and minimize complications.
The prognosis for infants with BPD varies depending on the severity of the disease and associated medical conditions. While some infants recover completely, others may have long-term respiratory problems that require ongoing management.
Cleft palate is a congenital birth defect that affects the roof of the mouth (palate). It occurs when the tissues that form the palate do not fuse together properly during fetal development, resulting in an opening or split in the palate. This can range from a small cleft at the back of the soft palate to a complete cleft that extends through the hard and soft palates, and sometimes into the nasal cavity.
A cleft palate can cause various problems such as difficulty with feeding, speaking, hearing, and ear infections. It may also affect the appearance of the face and mouth. Treatment typically involves surgical repair of the cleft palate, often performed during infancy or early childhood. Speech therapy, dental care, and other supportive treatments may also be necessary to address related issues.
'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.
Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.
Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.
The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.
The X chromosome is one of the two types of sex-determining chromosomes in humans (the other being the Y chromosome). It's one of the 23 pairs of chromosomes that make up a person's genetic material. Females typically have two copies of the X chromosome (XX), while males usually have one X and one Y chromosome (XY).
The X chromosome contains hundreds of genes that are responsible for the production of various proteins, many of which are essential for normal bodily functions. Some of the critical roles of the X chromosome include:
1. Sex Determination: The presence or absence of the Y chromosome determines whether an individual is male or female. If there is no Y chromosome, the individual will typically develop as a female.
2. Genetic Disorders: Since females have two copies of the X chromosome, they are less likely to be affected by X-linked genetic disorders than males. Males, having only one X chromosome, will express any recessive X-linked traits they inherit.
3. Dosage Compensation: To compensate for the difference in gene dosage between males and females, a process called X-inactivation occurs during female embryonic development. One of the two X chromosomes is randomly inactivated in each cell, resulting in a single functional copy per cell.
The X chromosome plays a crucial role in human genetics and development, contributing to various traits and characteristics, including sex determination and dosage compensation.
Denture design refers to the plan and configuration of a removable dental prosthesis, which is created to replace missing teeth and surrounding tissues in the mouth. The design process involves several factors such as:
1. The number and position of artificial teeth (pontics) used to restore the functional occlusion and aesthetics.
2. The type and arrangement of the denture base material that supports the artificial teeth and conforms to the oral tissues.
3. The selection and placement of various rests, clasps, or attachments to improve retention, stability, and support of the denture.
4. The choice of materials used for the construction of the denture, including the type of acrylic resin, metal alloys, or other components.
5. Consideration of the patient's individual needs, preferences, and oral conditions to ensure optimal fit, comfort, and functionality.
The design process is typically carried out by a dental professional, such as a prosthodontist or denturist, in close collaboration with the patient to achieve a custom-made solution that meets their specific requirements.
Developmental bone diseases are a group of medical conditions that affect the growth and development of bones. These diseases are present at birth or develop during childhood and adolescence, when bones are growing rapidly. They can result from genetic mutations, hormonal imbalances, or environmental factors such as poor nutrition.
Some examples of developmental bone diseases include:
1. Osteogenesis imperfecta (OI): Also known as brittle bone disease, OI is a genetic disorder that affects the body's production of collagen, a protein necessary for healthy bones. People with OI have fragile bones that break easily and may also experience other symptoms such as blue sclerae (whites of the eyes), hearing loss, and joint laxity.
2. Achondroplasia: This is the most common form of dwarfism, caused by a genetic mutation that affects bone growth. People with achondroplasia have short limbs and a large head relative to their body size.
3. Rickets: A condition caused by vitamin D deficiency or an inability to absorb or use vitamin D properly. This leads to weak, soft bones that can bow or bend easily, particularly in children.
4. Fibrous dysplasia: A rare bone disorder where normal bone is replaced with fibrous tissue, leading to weakened bones and deformities.
5. Scoliosis: An abnormal curvature of the spine that can develop during childhood or adolescence. While not strictly a developmental bone disease, scoliosis can be caused by various underlying conditions such as cerebral palsy, muscular dystrophy, or spina bifida.
Treatment for developmental bone diseases varies depending on the specific condition and its severity. Treatment may include medication, physical therapy, bracing, or surgery to correct deformities and improve function. Regular follow-up with a healthcare provider is essential to monitor growth, manage symptoms, and prevent complications.
Type II keratins are a group of intermediate filament proteins that are primarily expressed in epithelial cells. They are part of the keratin family, which is divided into two types (Type I and Type II) based on their acidic or basic isoelectric point. Type II keratins have a basic isoelectric point and include several subtypes such as KRT2, KRT3, KRT4, KRT10, KRT12, and others.
Type II keratins form heteropolymers with Type I keratins to provide structural support and integrity to epithelial cells. They are essential for the maintenance of cell shape, polarity, and mechanical resistance to stress. Mutations in type II keratin genes have been associated with several human genetic disorders, including epidermolysis bullosa simplex, a blistering skin disorder, and some forms of hair loss.
In summary, Type II keratins are a group of basic intermediate filament proteins that form heteropolymers with Type I keratins to provide structural support and integrity to epithelial cells.
Medically, hair is defined as a threadlike structure that grows from the follicles found in the skin of mammals. It is primarily made up of a protein called keratin and consists of three parts: the medulla (the innermost part or core), the cortex (middle layer containing keratin filaments) and the cuticle (outer layer of overlapping scales).
Hair growth occurs in cycles, with each cycle consisting of a growth phase (anagen), a transitional phase (catagen), and a resting phase (telogen). The length of hair is determined by the duration of the anagen phase.
While hair plays a crucial role in protecting the skin from external factors like UV radiation, temperature changes, and physical damage, it also serves as an essential aspect of human aesthetics and identity.
Hair diseases is a broad term that refers to various medical conditions affecting the hair shaft, follicle, or scalp. These conditions can be categorized into several types, including:
1. Hair shaft abnormalities: These are conditions that affect the structure and growth of the hair shaft. Examples include trichorrhexis nodosa, where the hair becomes weak and breaks easily, and pili torti, where the hair shaft is twisted and appears sparse and fragile.
2. Hair follicle disorders: These are conditions that affect the hair follicles, leading to hair loss or abnormal growth patterns. Examples include alopecia areata, an autoimmune disorder that causes patchy hair loss, and androgenetic alopecia, a genetic condition that leads to pattern baldness in both men and women.
3. Scalp disorders: These are conditions that affect the scalp, leading to symptoms such as itching, redness, scaling, or pain. Examples include seborrheic dermatitis, psoriasis, and tinea capitis (ringworm of the scalp).
4. Hair cycle abnormalities: These are conditions that affect the normal growth cycle of the hair, leading to excessive shedding or thinning. Examples include telogen effluvium, where a large number of hairs enter the resting phase and fall out, and anagen effluvium, which is typically caused by chemotherapy or radiation therapy.
5. Infectious diseases: Hair follicles can become infected with various bacteria, viruses, or fungi, leading to conditions such as folliculitis, furunculosis, and kerion.
6. Genetic disorders: Some genetic disorders can affect the hair, such as Menkes syndrome, which is a rare inherited disorder that affects copper metabolism and leads to kinky, sparse, and brittle hair.
Proper diagnosis and treatment of hair diseases require consultation with a healthcare professional, often a dermatologist or a trichologist who specializes in hair and scalp disorders.
Incontinentia Pigmenti (IP) is a rare genetic disorder that primarily affects the skin, hair, and teeth. It is usually apparent at birth or in early infancy. The condition is characterized by four stages of skin changes:
1. Vesiculobullous stage: This stage appears shortly after birth and is characterized by blisters and inflammation on the skin.
2. Verrucous stage: In this stage, which occurs around 6 months of age, the blisters turn into wart-like growths.
3. Hyperpigmented stage: This stage appears between ages 1 to 6 years and is characterized by swirling patterns of darkened skin.
4. Hypopigmented stage: In this final stage, which occurs in adolescence or early adulthood, the skin becomes paler in areas where the hyperpigmentation occurred.
Incontinentia Pigmenti is caused by mutations in the IKBKG gene and is inherited in an X-linked dominant pattern, meaning that females are more likely to be affected than males. The condition can also affect other organs, including the eyes, nails, hair, teeth, and central nervous system. Treatment typically focuses on managing symptoms and preventing complications.
Keratoderma, palmoplantar is a medical term that refers to a group of skin conditions characterized by thickening and hardening (hyperkeratosis) of the skin on the palms of the hands and soles of the feet. This condition can affect people of all ages, but it's most commonly seen in children.
The thickening of the skin is caused by an overproduction of keratin, a protein that helps to form the tough, outer layer of the skin. In palmoplantar keratoderma, this excess keratin accumulates in the stratum corneum, the outermost layer of the epidermis, leading to the formation of rough, scaly, and thickened patches on the palms and soles.
There are several different types of palmoplantar keratoderma, each with its own specific symptoms and causes. Some forms of the condition are inherited and present at birth or develop in early childhood, while others may be acquired later in life as a result of an underlying medical condition, such as atopic dermatitis, lichen planus, or psoriasis.
Treatment for palmoplantar keratoderma typically involves the use of emollients and keratolytic agents to help soften and remove the thickened skin. In some cases, oral retinoids or other systemic medications may be necessary to manage more severe symptoms. It's important to consult with a healthcare provider for an accurate diagnosis and treatment plan.
Hyperpigmentation is a medical term that refers to the darkening of skin areas due to an increase in melanin, the pigment that provides color to our skin. This condition can affect people of all races and ethnicities, but it's more noticeable in those with lighter skin tones.
Hyperpigmentation can be caused by various factors, including excessive sun exposure, hormonal changes (such as during pregnancy), inflammation, certain medications, and underlying medical conditions like Addison's disease or hemochromatosis. It can also result from skin injuries, such as cuts, burns, or acne, which leave dark spots known as post-inflammatory hyperpigmentation.
There are several types of hyperpigmentation, including:
1. Melasma: This is a common form of hyperpigmentation that typically appears as symmetrical, blotchy patches on the face, particularly the forehead, cheeks, and upper lip. It's often triggered by hormonal changes, such as those experienced during pregnancy or while taking birth control pills.
2. Solar lentigos (age spots or liver spots): These are small, darkened areas of skin that appear due to prolonged sun exposure over time. They typically occur on the face, hands, arms, and decolletage.
3. Post-inflammatory hyperpigmentation: This type of hyperpigmentation occurs when an injury or inflammation heals, leaving behind a darkened area of skin. It's more common in people with darker skin tones.
Treatment for hyperpigmentation depends on the underlying cause and may include topical creams, chemical peels, laser therapy, or microdermabrasion. Preventing further sun damage is crucial to managing hyperpigmentation, so wearing sunscreen with a high SPF and protective clothing is recommended.
Congenital hand deformities refer to physical abnormalities or malformations of the hand, wrist, and/or digits (fingers) that are present at birth. These deformities can result from genetic factors, environmental influences during pregnancy, or a combination of both. They may affect the bones, muscles, tendons, joints, and other structures in the hand, leading to varying degrees of impairment in function and appearance.
There are numerous types of congenital hand deformities, some of which include:
1. Polydactyly: The presence of extra digits on the hand, which can be fully formed or rudimentary.
2. Syndactyly: Webbing or fusion of two or more fingers, which may involve soft tissue only or bone as well.
3. Clinodactyly: A curved finger due to a sideways deviation of the fingertip, often affecting the little finger.
4. Camptodactyly: Permanent flexion or bending of one or more fingers, typically involving the proximal interphalangeal joint.
5. Trigger Finger/Thumb: A condition where a finger or thumb becomes locked in a bent position due to thickening and narrowing of the tendon sheath.
6. Radial Club Hand (Radial Ray Deficiency): Underdevelopment or absence of the radius bone, resulting in a short, curved forearm and hand deformity.
7. Ulnar Club Hand (Ulnar Ray Deficiency): Underdevelopment or absence of the ulna bone, leading to a short, curved forearm and hand deformity.
8. Cleidocranial Dysplasia: A genetic disorder affecting bone growth, resulting in underdeveloped or absent collarbones, dental abnormalities, and occasionally hand deformities.
9. Apert Syndrome: A rare genetic disorder characterized by the fusion of fingers and toes (syndactyly) and other skeletal abnormalities.
10. Holt-Oram Syndrome: A genetic disorder involving heart defects and upper limb deformities, such as radial ray deficiency or thumb anomalies.
Treatment for hand deformities varies depending on the specific condition and severity. Options may include physical therapy, bracing, splinting, medications, or surgical intervention.
Ectromelia is a medical term that refers to the congenital absence or malformation of a limb or extremity. It is also known as "congenital amputation" or "limb reduction defect." This condition can affect any extremity, including arms, legs, hands, or feet, and can range from mild, such as a missing finger or toe, to severe, such as the absence of an entire limb.
Ectromelia can be caused by various factors, including genetic mutations, environmental factors, or a combination of both. In some cases, the cause may be unknown. Treatment options for ectromelia depend on the severity and location of the malformation and may include prosthetics, physical therapy, or surgery.
Recessive genes refer to the alleles (versions of a gene) that will only be expressed when an individual has two copies of that particular allele, one inherited from each parent. If an individual inherits one recessive allele and one dominant allele for a particular gene, the dominant allele will be expressed and the recessive allele will have no effect on the individual's phenotype (observable traits).
Recessive genes can still play a role in determining an individual's genetic makeup and can be passed down through generations even if they are not expressed. If two carriers of a recessive gene have children, there is a 25% chance that their offspring will inherit two copies of the recessive allele and exhibit the associated recessive trait.
Examples of genetic disorders caused by recessive genes include cystic fibrosis, sickle cell anemia, and albinism.
I-kappa B kinase (IKK) is a protein complex that plays a crucial role in the activation of NF-kB (nuclear factor kappa-light-chain-enhancer of activated B cells), a transcription factor involved in the regulation of immune response, inflammation, cell survival, and proliferation.
The IKK complex is composed of two catalytic subunits, IKKα and IKKβ, and a regulatory subunit, IKKγ (also known as NEMO). Upon stimulation by various signals such as cytokines, pathogens, or stress, the IKK complex becomes activated and phosphorylates I-kappa B (IkB), an inhibitor protein that keeps NF-kB in an inactive state in the cytoplasm.
Once IkB is phosphorylated by the IKK complex, it undergoes ubiquitination and degradation, leading to the release and nuclear translocation of NF-kB, where it can bind to specific DNA sequences and regulate gene expression. Dysregulation of IKK activity has been implicated in various pathological conditions, including chronic inflammation, autoimmune diseases, and cancer.
Photophobia is a condition characterized by an abnormal sensitivity to light. It's not a fear of light, despite the name suggesting otherwise. Instead, it refers to the discomfort or pain felt in the eyes due to exposure to light, often leading to a strong desire to avoid light. This can include both natural and artificial light sources.
The severity of photophobia can vary greatly among individuals. Some people may only experience mild discomfort in bright light conditions, while others may find even moderate levels of light intolerable. It can be a symptom of various underlying health issues, including eye diseases or disorders like uveitis, keratitis, corneal abrasions, or optic neuritis, as well as systemic conditions such as migraines, meningitis, or certain medications that increase light sensitivity.
Ellis-van Creveld syndrome is a rare genetic disorder that affects the development of bones and other organs. It is characterized by short limbs, narrow chest, extra fingers or toes (polydactyly), heart defects, and abnormalities of the teeth and nails. The condition is caused by mutations in the EVC or EVC2 gene and is inherited in an autosomal recessive manner. It is also known as chondroectodermal dysplasia.
A complete denture is a removable dental appliance that replaces all of the teeth in an upper or lower arch. It is also commonly referred to as a "full denture." A complete denture is created specifically to fit a patient's mouth and can be made of either acrylic resin (plastic) or metal and acrylic resin.
The upper complete denture covers the palate (roof of the mouth), while the lower complete denture is shaped like a horseshoe to leave room for the tongue. Dentures are held in place by forming a seal with the gums and remaining jawbone structure, and can be secured further with the use of dental adhesives.
Complete dentures not only restore the ability to eat and speak properly but also help support the facial structures, improving the patient's appearance and overall confidence. It is important to maintain regular dental check-ups even if all teeth are missing, as the dentist will monitor the fit and health of the oral tissues and make any necessary adjustments to the denture.
Alopecia is a medical term that refers to the loss of hair or baldness. It can occur in various parts of the body, but it's most commonly used to describe hair loss from the scalp. Alopecia can have several causes, including genetics, hormonal changes, medical conditions, and aging.
There are different types of alopecia, such as:
* Alopecia Areata: It is a condition that causes round patches of hair loss on the scalp or other parts of the body. The immune system attacks the hair follicles, causing the hair to fall out.
* Androgenetic Alopecia: Also known as male pattern baldness or female pattern baldness, it's a genetic condition that causes gradual hair thinning and eventual hair loss, typically following a specific pattern.
* Telogen Effluvium: It is a temporary hair loss condition caused by stress, medication, pregnancy, or other factors that can cause the hair follicles to enter a resting phase, leading to shedding and thinning of the hair.
The treatment for alopecia depends on the underlying cause. In some cases, such as with telogen effluvium, hair growth may resume without any treatment. However, other forms of alopecia may require medical intervention, including topical treatments, oral medications, or even hair transplant surgery in severe cases.
Uterine cervical dysplasia is a condition characterized by abnormal cell growth on the lining of the cervix, which is the lower part of the uterus that connects to the vagina. It is also known as cervical intraepithelial neoplasia (CIN).
Cervical dysplasia can be caused by certain strains of human papillomavirus (HPV), a common sexually transmitted infection. The abnormal cells may develop into cancerous cells over time, although not all cases of cervical dysplasia will progress to cancer.
Cervical dysplasia is typically detected through a Pap test or HPV test, which are screening tests used to detect precancerous changes in the cervix. Depending on the severity and extent of the abnormal cells, treatment options may include close monitoring, surgical removal of the affected tissue, or more extensive surgery.
It is important for women to receive regular Pap tests and HPV tests as recommended by their healthcare provider to detect and treat cervical dysplasia early, before it has a chance to progress to cancer.
A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.
Genetic linkage is the phenomenon where two or more genetic loci (locations on a chromosome) tend to be inherited together because they are close to each other on the same chromosome. This occurs during the process of sexual reproduction, where homologous chromosomes pair up and exchange genetic material through a process called crossing over.
The closer two loci are to each other on a chromosome, the lower the probability that they will be separated by a crossover event. As a result, they are more likely to be inherited together and are said to be linked. The degree of linkage between two loci can be measured by their recombination frequency, which is the percentage of meiotic events in which a crossover occurs between them.
Linkage analysis is an important tool in genetic research, as it allows researchers to identify and map genes that are associated with specific traits or diseases. By analyzing patterns of linkage between markers (identifiable DNA sequences) and phenotypes (observable traits), researchers can infer the location of genes that contribute to those traits or diseases on chromosomes.
Sweat gland diseases are medical conditions that affect the functioning or structure of sweat glands, leading to excessive sweating (hyperhidrosis), lack of sweating (anhydrosis), or abnormal sweating (e.g., foul-smelling sweat). There are two main types of sweat glands in humans: eccrine glands, which produce a watery sweat that helps regulate body temperature, and apocrine glands, which are located in the armpits and groin and produce a thicker, milky sweat that can mix with bacteria on the skin and cause body odor.
Some examples of sweat gland diseases include:
1. Hidradenitis suppurativa: A chronic skin condition characterized by inflammation and infection of the apocrine glands, leading to the formation of abscesses, nodules, and sinus tracts.
2. Primary focal hyperhidrosis: A condition that causes excessive sweating in specific areas of the body, such as the armpits, hands, feet, or face, without any underlying medical cause.
3. Secondary generalized hyperhidrosis: Excessive sweating that affects the entire body and is caused by an underlying medical condition, such as diabetes, thyroid disease, or obesity.
4. Cystic adenoma of the axilla: A benign tumor that arises from the apocrine glands in the armpit.
5. Eccrine nevus: A rare congenital condition characterized by an increased number of eccrine glands in a localized area of the skin, leading to excessive sweating.
6. Fox-Fordyce disease: A chronic inflammatory disorder that affects the apocrine glands, causing itchy papules and pustules in the armpits and groin.
7. Pachyonychia congenita: A rare genetic disorder characterized by thickened nails, palmoplantar keratoderma, and abnormalities of the eccrine glands, leading to excessive sweating and odor production.
Fibromuscular dysplasia (FMD) is a rare condition that affects the arterial walls, primarily in the medium and large-sized arteries. According to the American Heart Association, FMD is characterized by uneven growth or damage to the cells in the artery wall, leading to the formation of fibrous tissue and areas with narrowing (stenosis) or ballooning (aneurysm) of the artery.
FMD most commonly affects the renal (kidney) and carotid (neck) arteries but can also occur in other arteries, such as those in the abdomen, arms, and legs. The exact cause of FMD is unknown, but genetic factors and hormonal influences are believed to play a role.
Symptoms of FMD depend on which arteries are affected and may include high blood pressure, headaches, neck pain, dizziness, visual disturbances, or kidney problems. Diagnosis typically involves imaging tests like ultrasound, CT angiography, or magnetic resonance angiography (MRA). Treatment options for FMD include medications to manage symptoms and control high blood pressure, as well as various interventions such as angioplasty or stenting to open narrowed arteries.
A partial denture is a type of removable dental prosthesis that replaces one or more missing teeth on a jaw while the remaining natural teeth remain intact. It is designed to fit securely and comfortably among the existing teeth, filling in the gaps created by tooth loss and helping to restore normal biting, chewing, and speaking functions.
Partial dentures typically consist of an acrylic base that resembles the color of gum tissue, with artificial teeth attached to it. The base is often held in place by metal or plastic clasps that hook around the existing teeth for support. In some cases, precision attachments may be used instead of clasps for a more discreet and natural-looking fit.
Partial dentures can help prevent several dental issues associated with tooth loss, such as drifting, tilting, or rotating of adjacent teeth, which can lead to further tooth loss and bite problems over time. They also help maintain the overall shape and structure of the face, preventing sagging or collapsing of facial muscles that may occur due to missing teeth.
Regular dental check-ups are essential for individuals wearing partial dentures to ensure proper fit, function, and oral health. Dentists will often examine the denture, the remaining natural teeth, and the gums to monitor any changes or issues and make necessary adjustments as needed.
Consanguinity is a medical and genetic term that refers to the degree of genetic relationship between two individuals who share common ancestors. Consanguineous relationships exist when people are related by blood, through a common ancestor or siblings who have children together. The closer the relationship between the two individuals, the higher the degree of consanguinity.
The degree of consanguinity is typically expressed as a percentage or fraction, with higher values indicating a closer genetic relationship. For example, first-degree relatives, such as parents and children or full siblings, share approximately 50% of their genes and have a consanguinity coefficient of 0.25 (or 25%).
Consanguinity can increase the risk of certain genetic disorders and birth defects in offspring due to the increased likelihood of sharing harmful recessive genes. The risks depend on the degree of consanguinity, with closer relationships carrying higher risks. It is important for individuals who are planning to have children and have a history of consanguinity to consider genetic counseling and testing to assess their risk of passing on genetic disorders.
Osteochondrodysplasias are a group of genetic disorders that affect the development of bones and cartilage. These conditions can result in dwarfism or short stature, as well as other skeletal abnormalities. Osteochondrodysplasias can be caused by mutations in genes that regulate bone and cartilage growth, and they are often characterized by abnormalities in the shape, size, and/or structure of the bones and cartilage.
There are many different types of osteochondrodysplasias, each with its own specific symptoms and patterns of inheritance. Some common examples include achondroplasia, thanatophoric dysplasia, and spondyloepiphyseal dysplasia. These conditions can vary in severity, and some may be associated with other health problems, such as respiratory difficulties or neurological issues.
Treatment for osteochondrodysplasias typically focuses on managing the symptoms and addressing any related health concerns. This may involve physical therapy, bracing or surgery to correct skeletal abnormalities, and treatment for any associated medical conditions. In some cases, genetic counseling may also be recommended for individuals with osteochondrodysplasias and their families.
Fibrous dysplasia, monostotic is a benign bone disorder that affects a single bone (monostotic) and is characterized by the replacement of normal bone tissue with fibrous (scar-like) tissue. This results in the formation of abnormal bone that is weakened and more susceptible to fractures. The lesions can cause deformities, pain, and decreased mobility, depending on their size and location. Monostotic fibrous dysplasia is the most common form of fibrous dysplasia, accounting for approximately 70-80% of all cases. It typically manifests during childhood or adolescence and may stabilize or progress slowly over time. In some cases, it can be associated with endocrine disorders such as precocious puberty, hyperthyroidism, or growth hormone excess.
Eyelids are the thin folds of skin that cover and protect the front surface (cornea) of the eye when closed. They are composed of several layers, including the skin, muscle, connective tissue, and a mucous membrane called the conjunctiva. The upper and lower eyelids meet at the outer corner of the eye (lateral canthus) and the inner corner of the eye (medial canthus).
The main function of the eyelids is to protect the eye from foreign particles, light, and trauma. They also help to distribute tears evenly over the surface of the eye through blinking, which helps to keep the eye moist and healthy. Additionally, the eyelids play a role in facial expressions and non-verbal communication.
Fibrous Dysplasia, Polyostotic is a rare genetic disorder that affects the bone tissue. It is characterized by the replacement of normal bone tissue with fibrous (scar-like) tissue, leading to weak and fragile bones that are prone to fractures and deformities. The term "polyostotic" refers to the involvement of multiple bones in the body.
In this condition, there is an abnormal development of the bone during fetal growth or early childhood due to a mutation in the GNAS gene. This results in the formation of fibrous tissue instead of normal bone tissue, leading to the characteristic features of Fibrous Dysplasia, Polyostotic.
The symptoms of this condition can vary widely depending on the severity and location of the affected bones. Common symptoms include:
* Bone pain and tenderness
* Bone deformities (such as bowing of the legs)
* Increased risk of fractures
* Skin pigmentation changes (cafe-au-lait spots)
* Hearing loss or other hearing problems (if the skull is affected)
Fibrous Dysplasia, Polyostotic can also be associated with endocrine disorders such as precocious puberty and hyperthyroidism. Treatment typically involves a combination of medications to manage pain and prevent fractures, as well as surgical intervention to correct bone deformities or stabilize fractures.
Congenital foot deformities refer to abnormal structural changes in the foot that are present at birth. These deformities can vary from mild to severe and may affect the shape, position, or function of one or both feet. Common examples include clubfoot (talipes equinovarus), congenital vertical talus, and cavus foot. Congenital foot deformities can be caused by genetic factors, environmental influences during fetal development, or a combination of both. Treatment options may include stretching, casting, surgery, or a combination of these approaches, depending on the severity and type of the deformity.
Mastication is the medical term for the process of chewing food. It's the first step in digestion, where food is broken down into smaller pieces by the teeth, making it easier to swallow and further digest. The act of mastication involves not only the physical grinding and tearing of food by the teeth but also the mixing of the food with saliva, which contains enzymes that begin to break down carbohydrates. This process helps to enhance the efficiency of digestion and nutrient absorption in the subsequent stages of the digestive process.
Canine hip dysplasia (CHD) is a common skeletal disorder in dogs, particularly in large and giant breeds, characterized by the abnormal development and degeneration of the coxofemoral joint - the joint where the head of the femur (thigh bone) meets the acetabulum (hip socket) of the pelvis. This condition is often caused by a combination of genetic and environmental factors that lead to laxity (looseness) of the joint, which can result in osteoarthritis (OA), pain, and decreased mobility over time.
In a healthy hip joint, the femoral head fits snugly into the acetabulum, allowing smooth and stable movement. However, in dogs with CHD, the following abnormalities may occur:
1. Shallow acetabulum: The hip socket may not be deep enough to provide adequate coverage of the femoral head, leading to joint instability.
2. Flared acetabulum: The rim of the acetabulum may become stretched and flared due to excessive forces exerted on it by the lax joint.
3. Misshapen or malformed femoral head: The femoral head may not have a normal round shape, further contributing to joint instability.
4. Laxity of the joint: The ligament that holds the femoral head in place within the acetabulum (ligamentum teres) can become stretched, allowing for excessive movement and abnormal wear of the joint surfaces.
These changes can lead to the development of osteoarthritis, which is characterized by the breakdown and loss of cartilage within the joint, as well as the formation of bone spurs (osteophytes) and thickening of the joint capsule. This results in pain, stiffness, and decreased range of motion, making it difficult for affected dogs to perform everyday activities such as walking, running, or climbing stairs.
Canine hip dysplasia is typically diagnosed through a combination of physical examination, medical history, and imaging techniques such as radiographs (X-rays). Treatment options may include conservative management, such as weight management, exercise modification, joint supplements, and pain medication, or surgical intervention, such as total hip replacement. The choice of treatment depends on the severity of the disease, the age and overall health of the dog, and the owner's financial resources.
Preventing canine hip dysplasia is best achieved through selective breeding practices that aim to eliminate affected animals from breeding populations. Additionally, maintaining a healthy weight, providing appropriate exercise, and ensuring proper nutrition throughout a dog's life can help reduce the risk of developing this debilitating condition.
Warts are small, rough growths on the skin or mucous membranes caused by one of several types of human papillomavirus (HPV). They can appear anywhere on the body but most often occur on the hands, fingers, and feet. Warts are benign, non-cancerous growths, but they can be unsightly, uncomfortable, or painful, depending on their location and size.
Warts are caused by HPV infecting the top layer of skin, usually through a small cut or scratch. The virus triggers an overproduction of keratin, a protein in the skin, leading to the formation of a hard, rough growth. Warts can vary in appearance depending on their location and type, but they are generally round or irregularly shaped, with a rough surface that may be flat or slightly raised. They may also contain small black dots, which are actually tiny blood vessels that have clotted.
Warts are contagious and can spread from person to person through direct skin-to-skin contact or by sharing personal items such as towels or razors. They can also be spread by touching a wart and then touching another part of the body. Warts may take several months to develop after exposure to HPV, so it may not always be clear when or how they were contracted.
There are several types of warts, including common warts, plantar warts (which occur on the soles of the feet), flat warts (which are smaller and smoother than other types of warts), and genital warts (which are sexually transmitted). While most warts are harmless and will eventually go away on their own, some may require medical treatment if they are causing discomfort or are unsightly. Treatment options for warts include topical medications, cryotherapy (freezing the wart with liquid nitrogen), and surgical removal.
Cleidocranial dysplasia is a genetic skeletal disorder that affects the development of bones and teeth. The condition is characterized by the underdevelopment or absence of the collarbones (clavicles), which can result in shoulder joints that are abnormally close together. This may allow the person to bring their shoulders around to touch or even overlap in front of their body.
People with cleidocranial dysplasia also often have a delayed closure of the fontanels (soft spots) on the skull, as well as an abnormal shape and size of the head. The facial bones may be underdeveloped, leading to a sunken appearance in the middle of the face and a prominent forehead. Dental abnormalities are also common, such as missing or delayed eruption of teeth, extra teeth, and misaligned teeth.
Cleidocranial dysplasia is caused by mutations in the CBFA1/RUNX2 gene and is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the condition if one of their parents is affected. However, many cases result from new mutations in the gene and occur in people with no family history of the disorder. Treatment typically involves surgical procedures to correct skeletal abnormalities and dental issues, as well as orthodontic treatment to align teeth.
A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.
Retinal dysplasia is a developmental abnormality of the retina, which is the light-sensitive tissue located at the back of the eye. This condition is characterized by the presence of folds or rosettes (round clusters) in the retinal structure, resulting from improper or disorganized growth of the retinal cells during fetal development.
Retinal dysplasia can be classified into two types:
1. Focal or localized retinal dysplasia: This type is limited to a small area of the retina and usually does not significantly affect vision. It may present as mild folds or rosettes in the retinal structure.
2. Generalized or severe retinal dysplasia: This type involves widespread disorganization of the retinal layers, leading to more significant visual impairment. In extreme cases, it can result in complete detachment of the retina from the underlying tissue, causing blindness.
Retinal dysplasia can be an isolated finding or associated with various genetic disorders, infections, or environmental factors during pregnancy. Depending on the severity and underlying cause, management may include monitoring for visual development, corrective lenses, or treatment of associated conditions.
A missense mutation is a type of point mutation in which a single nucleotide change results in the substitution of a different amino acid in the protein that is encoded by the affected gene. This occurs when the altered codon (a sequence of three nucleotides that corresponds to a specific amino acid) specifies a different amino acid than the original one. The function and/or stability of the resulting protein may be affected, depending on the type and location of the missense mutation. Missense mutations can have various effects, ranging from benign to severe, depending on the importance of the changed amino acid for the protein's structure or function.
Sweating, also known as perspiration, is the production of sweat by the sweat glands in the skin in response to heat, physical exertion, hormonal changes, or emotional stress. Sweat is a fluid composed mainly of water, with small amounts of sodium chloride, lactate, and urea. It helps regulate body temperature by releasing heat through evaporation on the surface of the skin. Excessive sweating, known as hyperhidrosis, can be a medical condition that may require treatment.
Heterozygote detection is a method used in genetics to identify individuals who carry one normal and one mutated copy of a gene. These individuals are known as heterozygotes and they do not typically show symptoms of the genetic disorder associated with the mutation, but they can pass the mutated gene on to their offspring, who may then be affected.
Heterozygote detection is often used in genetic counseling and screening programs for recessive disorders such as cystic fibrosis or sickle cell anemia. By identifying heterozygotes, individuals can be informed of their carrier status and the potential risks to their offspring. This information can help them make informed decisions about family planning and reproductive options.
Various methods can be used for heterozygote detection, including polymerase chain reaction (PCR) based tests, DNA sequencing, and genetic linkage analysis. The choice of method depends on the specific gene or mutation being tested, as well as the availability and cost of the testing technology.
Congenital hip dislocation, also known as developmental dysplasia of the hip (DDH), is a condition where the hip joint fails to develop normally in utero or during early infancy. In a healthy hip, the head of the femur (thigh bone) fits snugly into the acetabulum (hip socket). However, in congenital hip dislocation, the femoral head is not held firmly in place within the acetabulum due to abnormal development or laxity of the ligaments that support the joint.
There are two types of congenital hip dislocations:
1. Teratologic dislocation: This type is present at birth and occurs due to abnormalities in the development of the hip joint during fetal growth. The femoral head may be completely outside the acetabulum or partially dislocated.
2. Developmental dysplasia: This type develops after birth, often within the first few months of life, as a result of ligamentous laxity and shallow acetabulum. In some cases, it can progress to a complete hip dislocation if left untreated.
Risk factors for congenital hip dislocation include family history, breech presentation during delivery, and female gender. Early diagnosis and treatment are crucial to prevent long-term complications such as pain, limited mobility, and osteoarthritis. Treatment options may include bracing, closed reduction, or surgical intervention, depending on the severity and age of the child at diagnosis.
Thnanatophoric Dysplasia is a severe skeletal disorder characterized by extreme short limbs, a narrow chest, and large head. It is one of the most common types of short-limbed dwarfism. The name "thanatophoric" comes from the Greek word thanatos, meaning death, as this condition is often lethal in the newborn period or shortly thereafter due to respiratory distress.
The disorder is caused by mutations in the FGFR3 gene, which provides instructions for making a protein that is part of a group of proteins called fibroblast growth factor receptors. These receptors play critical roles in many important processes during embryonic development, such as controlling bone growth.
There are two major types of thanatophoric dysplasia: type I and type II. Type I is characterized by curved thigh bones (femurs) and a clover-leaf shaped skull. Type II is characterized by straight femurs and an unossified (not fully developed) vertebral column.
The diagnosis of thanatophoric dysplasia can be made prenatally through ultrasound examination or postnatally through physical examination, X-rays, and genetic testing. Unfortunately, due to the severity of the condition, there is no cure for thanatophoric dysplasia and management is supportive in nature, focusing on providing comfort and addressing any complications that may arise.
Ectodermal dysplasia
Hypohidrotic ectodermal dysplasia
Palmoplantar ectodermal dysplasia
Clouston's hidrotic ectodermal dysplasia
Ectrodactyly-ectodermal dysplasia-cleft syndrome
Ectodermal dysplasia with corkscrew hairs
Hypohidrotic ectodermal dysplasia with immune deficiency
Pure hair-nail type ectodermal dysplasia
Rosselli-Gulienetti syndrome
Sweat gland
Lelis syndrome
GJB6
Hypodontia
Odontoonychodermal dysplasia
ANOTHER syndrome
List of OMIM disorder codes
Cortes Lacassie syndrome
Hay-Wells syndrome
CoryxKenshin
Kohlschütter-Tönz syndrome
Oculodentodigital dysplasia
Ectodysplasin A2 receptor
TNFRSF19
Focal dermal hypoplasia
Arthrogryposis
EEM syndrome
AREDYLD syndrome
Ectodysplasin A receptor
KRT74
Anodontia
Ectodermal dysplasia - Wikipedia
Hypohidrotic ectodermal dysplasia: MedlinePlus Genetics
Ectodermal Dysplasia: Background, Pathophysiology, Etiology
Ectodermal Dysplasia News, Articles | The Scientist Magazine®
Autoimmune polyglandular syndrome type 3c with ectodermal dysplasia, immune deficiency and hemolytic-uremic syndrome
Molecular basis of hypohidrotic ectodermal dysplasia: an update | Journal of Applied Genetics
Hidrotic ectodermal dysplasia
Ectodermal Dysplasia: Background, Pathophysiology, Etiology
Position Statement: Dental Management of Persons with Ectodermal Dysplasia | American College of Prosthodontists
Gene effect in carriers of anhidrotic ectodermal dysplasia. | Journal of Medical Genetics
CONCEPT Ectodermal Dysplasia
Dental Treatment for Patients With Ectodermal Dysplasia
X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle | Genetics Selection Evolution
ECTODERMAL DYSPLASIA WITH PARTIAL ANODONTIA | JAMA Pediatrics | JAMA Network
Ectodermal Dysplasia: case report
Ectodermal Dysplasia Differential Diagnoses
Ectodermal Dysplasia: Background, Pathophysiology, Epidemiology
Ectodermal dysplasia- a case report with literature review | International Journal of Current Research
Ectodermal dysplasia - Breda Genetics srl
Advice of Ectodermal Dysplasia | Diseasemaps
Ectodermal Dysplasia XHED, XLED - DogWellNet
Nail growth - Ectodermal Dysplasia Society
Placement of endosseous implants in children and adolescents with hereditary ectodermal dysplasia<...
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | Profiles RNS
CleanPlex Ectodermal Dysplasia NGS Panel • NUCLEUS BIOTECH
ECTODERMAL DYSPLASIA, ECTRODACTYLY, AND MACULAR DYSTROPHY SYNDROME; EEMS
Ectodermal Dysplasia Society - U.K. Summer 2013 - CEDSA
OMIA:000323: Ectodermal dysplasia - OMIA - Online Mendelian Inheritance in Animals
CIENCIASMEDICASNEWS: anhidrotic ectodermal dysplasia with immune deficiency - Genetics Home Reference
NFKBIAbase: Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency | Publications
National Foundation for Ectodermal Dysplasias2
Syndrome16
- Dental and maxillofacial characteristics in six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting (EEC)syndrome. (medscape.com)
- Hidrotic ectodermal dysplasia 2, or Clouston syndrome (referred to as HED2 throughout this GeneReview ) is characterized by a triad of major clinical features including partial-to-complete alopecia, nail dystrophy, and palmoplantar hyperkeratosis. (nih.gov)
- The most common ectodermal dysplasias are X-linked recessive hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome), as shown in the image below, and hidrotic ectodermal dysplasia (Clouston syndrome). (medscape.com)
- A newborn boy with anhidrotic/hypohidrotic ectodermal dysplasia syndrome showing generalized fine scaling and a history of intermittent fever. (medscape.com)
- Ectodermal dysplasia, ectrodactyly, and clefting syndrome. (medscape.com)
- Ectrodactyly observed in an individual with ectodermal dysplasia, ectrodactyly, and clefting syndrome. (medscape.com)
- In the Ectodermal Syndrome known as Hay-Wells (AEC) the skin is more severely affected, such that infants may present with chronic wounds complicated by life-threatening infections requiring the care of a Doctor to relieve discomfort, prevent secondary infection and minimise scarring. (edsociety.co.uk)
- Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. (qxmd.com)
- Keratitis-ichthyosis-deafness syndrome (KID) is a rare ectodermal dysplasia characterized by vascularizing keratitis, profound sensorineural hearing loss (SNHL), and progressive erythrokeratoderma, a clinical triad that indicates a failure in development and differentiation of multiple stratifying epithelia. (qxmd.com)
- Dr. Koster will share with families affected by p63 conditions, ankyloblepharon-ectodermal defects-clefting (AEC) syndrome and ectrodactly-ectodermal dysplasia-clefting (EEC) syndrome, the progress her lab team has made on two different projects . (nfed.org)
- Hypohidrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome (OMIM: 305100) occurs in 1 out of 5000-10,000 births [19] and has an X-linked recessive inheritance pattern (X-linked hypohydrotic ectodermal dysplasia - XLHED) [2]. (rsu.lv)
- Individualized Plastic Reconstruction Strategy for Patients With Ectodermal Dysplasia Syndrome. (bvsalud.org)
- Ectodermal dysplasia syndrome is a hereditary disease of ectodermal origin. (bvsalud.org)
- Four men and 1 woman with ectodermal dysplasia syndrome were treated. (bvsalud.org)
- 2 Disorders with X-linked inheritance include X-linked hypohydrotic ectodermal dysplasia, fragile X syndrome, and factor VIII deficiency (hemophilia). (ada.org)
- It is likely that human EpSCs will be useful in the treatment of diseases such as alopecias, ectodermal dysplasias, monilethrix, Netherton syndrome, Menkes disease and hereditary epidermolysis bullosa. (nature.com)
Hidrotic ectodermal2
- Clouston's hidrotic ectodermal dysplasia is associated with GJB6. (wikipedia.org)
- Mutations in GJB6 cause hidrotic ectodermal dysplasia. (medscape.com)
Hereditary3
- Hereditary ectodermal dysplasia (congenital ectodermal defect). (medscape.com)
- Ectodermal dysplasia includes a large and heterogeneous group of hereditary diseases characterized by clinical manifestations related to alterations in ectodermal structures, mainly hair, nails, teeth, and skin. (bvsalud.org)
- Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc. (rsu.lv)
Anhidrotic ectodermal dysplasias1
- There are two main types of these disorders - hidrotic and hypohidrotic/anhidrotic ectodermal dysplasias. (rsu.lv)
Associated with autosomal dominant1
- A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. (medscape.com)
Incontinentia pigmenti2
- A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). (medscape.com)
- Inform and train participants in basic and practical aspects on Ectodermal Dysplasias (ED) and Incontinentia Pigmenti (IP) with specific focus on recent research update research and innovative care. (ejprarediseases.org)
Hypohidrotic ectodermal dysplasias1
- Dr. Schneider treated three babies affected by x-linked hypohidrotic ectodermal dysplasias in utero with EDI200. (nfed.org)
NFED3
- The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research. (globalgenes.org)
- In 2010, the NFED established the first and only Ectodermal Dysplasias International Registry. (nfed.org)
- The National Foundation for Ectodermal Dysplasia (NFED) defines ectodermal dysplasia as a ''genetic disorder in which there are congenital birth defects (abnormalities) of two or more ectodermal structures" 1 . (com.pk)
Mutations10
- Each type of dysplasia is caused by specific mutations in certain genes. (medlineplus.gov)
- Monreal AW, Zonana J, Ferguson B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations [published erratum appears in Am J Hum Genet 1998 Oct;63(4):1253-5]. (medscape.com)
- Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. (medscape.com)
- The CleanPlex® Ectodermal Dysplasia Panel is a pre-designed and made-to-order multiplex PCR / amplicon-based targeted sequencing assay for examining the germline variants or mutations across 8 genes associated with Ectodermal Dysplasia. (paragongenomics.com)
- An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN. (sdsu.edu)
- Our data reveal striking genotype-phenotype correlations and demonstrate that dominant GJB2 mutations can disturb the gap junction system of one or several ectodermal epithelia, thereby producing multiple phenotypes: nonsyndromic SNHL, syndromic SNHL with palmoplantar keratoderma, and KID. (qxmd.com)
- More than 300 mutations in the EDA gene have been found to cause hypohidrotic ectodermal dysplasia, the most common form of ectodermal dysplasia. (nih.gov)
- EDA gene mutations are the most frequent cause of hypohidrotic ectodermal dysplasia, accounting for more than half of all cases. (nih.gov)
- It is unclear why the effects of some mutations in this gene appear to be limited to tooth development, while other mutations affect the formation of multiple ectodermal tissues. (nih.gov)
- X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by mutations in NEMO/IKKgamma, the regulatory subunit of the IkB kinase complex. (lu.se)
Autosomal recessive4
- Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (sdsu.edu)
- This graph shows the total number of publications written about "Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive" by people in this website by year, and whether "Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive" was a major or minor topic of these publications. (sdsu.edu)
- Below are the most recent publications written about "Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive" by people in Profiles. (sdsu.edu)
- 5 Some forms of ectodermal dysplasia and of amelogenesis imperfecta are inherited as autosomal recessive traits. (ada.org)
Syndromes6
- Ectodermal dysplasia (ED) is a group of genetic syndromes all deriving from abnormalities of the ectodermal structures. (wikipedia.org)
- Sweating in ectodermal dysplasia syndromes. (medscape.com)
- Pure ectodermal dysplasias are manifested by defects in ectodermal structures alone, while ectodermal dysplasia syndromes are defined by the combination of ectodermal defects in association with other anomalies. (medscape.com)
- Visinoni tabulated a summary of the 186 defined ectodermal dysplasia syndromes classified as group A in 2009. (medscape.com)
- [ 5 ] This classification was revised in 2014 to include 163 defined ectodermal dysplasia syndromes. (medscape.com)
- Several ectodermal dysplasia syndromes may manifest in association with midfacial defects, mainly cleft lip, cleft palate, or both. (medscape.com)
Symptoms5
- When Do Symptoms of Hypohidrotic ectodermal dysplasia Begin? (nih.gov)
- What are the symptoms of Ectodermal Dysplasia? (rarediseaseshealthcenter.com)
- There is no cure for ectodermal dysplasia, but there are treatments available to help manage the symptoms. (rarediseaseshealthcenter.com)
- Dental abnormalities in a 5-year-old girl from north Sweden family who suffered from various symptoms of autosomal dominant hypohidrotic ectodermal dysplasia (HED) a) Intraoral view. (wikidoc.org)
- Although missing teeth is a common feature of ectodermal dysplasias, "nonsyndromic" suggests that in these cases tooth agenesis occurs without the other signs and symptoms of those conditions. (nih.gov)
Diagnosis2
- Diagnosing ectodermal dysplasia is not always easy, and confirming a diagnosis may require consulting with several health care professionals. (nih.gov)
- If the dental exam suggests ectodermal dysplasia, the dentist will refer you to a medical geneticist or a doctor with experience in ectodermal dysplasias to confirm the diagnosis. (nih.gov)
Anomalies4
- [ 3 , 4 ] Their original classification system stratified the ectodermal dysplasias into different subgroups according to the presence or absence of (1) hair anomalies or trichodysplasias, (2) dental abnormalities, (3) nail abnormalities or onychodysplasias, and (4) eccrine gland dysfunction or dyshidrosis. (medscape.com)
- The goal of the study is to develop treatments for the various anomalies, including ectodermal dysplasias. (nfed.org)
- Lethal PPS is differentiated by microcephaly , corneal aplasia , ectropion , bony fusions, hypoplastic nose , and absent thumbs , while PPS with Ectodermal Dysplasia is differentiated by woolly hair , brittle nails , ectodermal anomalies, and fissure of the sacral vertebrae . (wikidoc.org)
- Afin d'estimer l'incidence des cas de fente labiale et de fente palatine chez les nourrissons jordaniens et de repérer les anomalies associées, nous avons mené une étude prospective en milieu hospitalier sur une période de cinq ans, de janvier 2000 à janvier 2005. (who.int)
Disorders3
- The ectodermal dysplasias (EDs) comprise a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from embryonic ectoderm. (medscape.com)
- Overall, the ectodermal dysplasias were classified into either group A disorders, which were manifested by defects in at least 2 of the 4 classic ectodermal structures as defined above, with or without other defects, and group B disorders, which were manifested by a defect in one classic ectodermal structure (1-4 from above) in combination with (5) a defect in one other ectodermal structure (ie, ears, lips, dermatoglyphics). (medscape.com)
- We are thrilled that Dr. Kenneth Olivier and Dr. Alexandra Freeman, NIH experts in pediatric pulmonology (lung disorders) and infectious diseases and immunology will be performing respiratory function testing and immune function testing in individuals affected by ectodermal dysplasias. (nfed.org)
Several ectodermal1
- Families have consistently reported increased levels of concerns for respiratory infections, asthma and allergic rhinitis in individual affected by several ectodermal dysplasias. (nfed.org)
Defects4
- Eleven group A subgroups were defined, each with a distinct combination of 2 or more ectodermal defects (eg, 2-4, 1-2-3, 1-2-3-4 from above). (medscape.com)
- [ 7 ] Similarly, in 2001, Priolo and Laganà reclassified the ectodermal dysplasias into 2 main functional groups: (1) defects in developmental regulation/epithelial-mesenchymal interaction and (2) defects in cytoskeleton maintenance and cell stability. (medscape.com)
- [ 8 ] Other classification systems categorize the ectodermal dysplasias based on defects in cell-cell communication and signaling, adhesion, transcription regulation, or development. (medscape.com)
- Many gene defects can cause ectodermal dysplasias. (health32.com)
Abnormalities1
- Ectodermal dysplasias are described as "heritable conditions in which there are abnormalities of two or more ectodermal structures such as the hair, teeth, nails, sweat glands, salivary glands, cranial-facial structure, digits and other parts of the body. (wikipedia.org)
Mutation4
- X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. (medscape.com)
- Ectodermal dysplasias are caused by a change, or mutation, in a gene. (nih.gov)
- The exact cause of ectodermal dysplasia is unknown, but it is believed to be caused by a mutation in one of several genes that are responsible for the development of these structures. (rarediseaseshealthcenter.com)
- Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. (paragongenomics.com)
Teeth9
- Ectodermal dysplasias is a group of conditions in which there is abnormal development of the skin, hair, nails, teeth, or sweat glands. (medlineplus.gov)
- If you think your child may have ectodermal dysplasia because some teeth are missing or not developing normally, see a dentist or doctor to discuss your concerns. (nih.gov)
- Ectodermal dysplasia is a group of genetic conditions that affect the development of the skin, hair, nails, teeth, and sweat glands. (rarediseaseshealthcenter.com)
- Starting before birth, this signaling pathway controls the formation of ectodermal structures such as hair follicles, sweat glands, and teeth. (nih.gov)
- Hypohidrotic ectodermal dysplasia is characterized by a reduced ability to sweat (hypohidrosis), sparse scalp and body hair (hypotrichosis), and several missing teeth (hypodontia) or teeth that are malformed. (nih.gov)
- Without these signals, hair follicles, teeth, sweat glands, and other ectodermal structures do not form properly, which leads to the characteristic features of hypohidrotic ectodermal dysplasia. (nih.gov)
- Hypdontia (absence of one or several teeth excluding third molar) and anodontia (absence of all teeth) are associated with Ectodermal dysplasia. (com.pk)
- Ectodermal dysplasias (ED) are rare and orphan genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives, including hair, teeth, nails, and certain glands (new definition, Wright et al, 2019). (ejprarediseases.org)
- Clarabelle (age 9) is writing a children's book series to educate people about her condition - HED (Hypohidrotic Ectodermal Dysplasia), empower herself, help raise money for the phenomenal cost of continual updates for dentures in a growing mouth, and to help other children who need teeth. (gofundme.com)
Sweat4
- People with ectodermal dysplasia have a lack of sweat glands. (medlineplus.gov)
- Rouse C, Siegfried E, Breer W, Nahass G. Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: further characterization. (medscape.com)
- Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging. (medscape.com)
- Whole body sweat rate in two brothers suffering from congenital ectodermal dysplasia (CED) was measured. (tau.ac.il)
Defect2
- With the recent identification of the causative genetic defect for a number of the ectodermal dysplasias, newer classification systems have been devised. (medscape.com)
- In 2003, Lamartine reclassified the ectodermal dysplasias into the following 4 functional groups based on the underlying pathophysiologic defect: (1) cell-to-cell communication and signaling, (2) adhesion, (3) development, and (4) other. (medscape.com)
Tissues2
- Dysplasia means abnormal development of cells or tissues. (medlineplus.gov)
- Conditions affecting tissues of ectoderm have been historically classified as ectodermal dysplasias . (nfed.org)
Palmoplantar1
- Palmoplantar ectodermal dysplasia refers to several different conditions selectively affecting the hands and feet. (wikipedia.org)
EDAR1
- Hypohidrotic ectodermal dysplasia can be associated with EDA, EDAR and EDARADD. (wikipedia.org)
Inheritance1
- 1. Genetic inheritance: Ectodermal dysplasia is an inherited disorder, meaning it is passed down from parents to their children. (rarediseaseshealthcenter.com)
Heterozygous1
- A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia. (medscape.com)
Clinical8
- Pinheiro M, Freire-Maia N. Ectodermal dysplasias: a clinical classification and a causal review. (medscape.com)
- Ectodermal dysplasias: clinical and molecular review. (medscape.com)
- Update on ectodermal dysplasias clinical classification. (medscape.com)
- Priolo M, Lagana C. Ectodermal dysplasias: a new clinical-genetic classification. (medscape.com)
- Priolo M. Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. (medscape.com)
- Current classification of ectodermal dysplasias is based on clinical features. (medscape.com)
- Because of the large number of genetically and clinical diverse conditions meeting this inclusion criteria, there is support for developing an updated and modified classification system for the ectodermal dysplasias. (nfed.org)
- The goal is to develop an approach to classifying the many different ectodermal dysplasias in a logical and consistent manner that better facilitates gathering information and communicating the clinical features or conditions that are associated with a specific condition. (nfed.org)
19291
- Although Thurnam published the first report of a patient with ectodermal dysplasia in 1848, the term ectodermal dysplasia was not coined until 1929 by Weech. (medscape.com)
Variant1
- If you have a common variant of ectodermal dysplasia, this will not shorten your lifespan. (medlineplus.gov)
XLHED1
- XLHED, or X-linked hypohidrotic ectodermal dysplasia, is an ectoderm developmental disorder [1] . (genethique.org)
Characteristics1
- The patient presented characteristics of ectodermic dysplasia, in hypohidrotic form, and a medical record of a number of members of the maternal family who had also been affected. (bvsalud.org)
Skin4
- Hypohidrotic ectodermal dysplasia (HED) is a genetic skin disease. (nih.gov)
- Ectodermal dysplasia with skin fragility is associated with PKP1. (wikipedia.org)
- 2. Skin Care: People with ectodermal dysplasia may need to use special skin care products to keep their skin hydrated and healthy. (rarediseaseshealthcenter.com)
- 4. Wearing Protective Clothing: People with ectodermal dysplasia may need to wear protective clothing to protect their skin from the sun and other environmental factors. (rarediseaseshealthcenter.com)
Findings1
- This is consistent with the salivary glands being of ectodermal origin, although some findings have suggested that there is also mesodermal input. (wikipedia.org)
Affects1
- The most common form of ectodermal dysplasia usually affects men. (medlineplus.gov)
Phenotypes1
- Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review. (medscape.com)
Classification system1
- Their goal is to come to a consensus on a new classification system to better meet the needs of the ectodermal dysplasias community. (nfed.org)
Hair1
- 3. Hair Care: People with ectodermal dysplasia may need to use special shampoos and conditioners to keep their hair healthy. (rarediseaseshealthcenter.com)