Proteus Syndrome
Lipomatosis
Proteus
Proteus mirabilis
Proteus vulgaris
Nevus
Proteus syndrome and immunodeficiency. (1/31)
A 10 year old boy with Proteus syndrome presented with a pericardial effusion of unknown aetiology. Immunological investigation revealed low serum IgG and IgA, accompanied by low levels of specific antibodies to pneumococcal and haemophilus type B polysaccharides. Circulating lymphocyte surface marker profile revealed T and B cell lymphopenia. This is the first report of hypogammaglobulinaemia occurring in the Proteus syndrome. (+info)Germline and germline mosaic PTEN mutations associated with a Proteus-like syndrome of hemihypertrophy, lower limb asymmetry, arteriovenous malformations and lipomatosis. (2/31)
Germline PTEN mutations cause Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRR), two hamartoma-tumour syndromes, and somatic PTEN alterations have been shown to participate, to a greater or lesser extent, in a wide variety of sporadic neoplasia. PTEN is a tumour suppressor and dual-specificity phosphatase which affects apoptosis via its lipid phosphatase activity in the phosphoinositol-3-kinase and AKT pathway as well as inhibiting cell spreading via the focal adhesion kinase pathway. CS and BRR share some features, such as hamartomas and lipomatosis. To determine whether other syndromes characterized by overgrowth and lipomas are part of the PTEN syndrome spectrum, we ascertained six individuals with overgrowth and lipomas but who did not meet the diagnostic criteria for CS or BRR. Five had Proteus syndrome and one, a Proteus-like syndrome. When germline DNA and DNA from at least one involved tissue per case were examined for PTEN mutations, only the Proteus-like patient was found to harbour a germline R335X mutation. Interestingly, a lipomatous mass, an epidermoid naevus and arteriovenous malformation tissue, all of which were sampled from physically distinct sites, were all found to carry a second hit R130X mutation on the allele opposite the germline R335X. Both mutations have been described in CS and BRR. We postulate that the second hit, R130X, occurred early in embryonic development and may even represent germline mosaicism. Thus, PTEN may be involved in Proteus-like syndrome with its implications for cancer development in the future. (+info)Genital tract tumors in Proteus syndrome: report of a case of bilateral paraovarian endometrioid cystic tumors of borderline malignancy and review of the literature. (3/31)
Proteus syndrome is a rare, sporadic disorder that causes postnatal overgrowth of multiple tissues in a mosaic pattern. Characteristic manifestations include: overgrowth and hypertrophy of limbs and digits, connective tissue nevus, epidermal nevus and hyperostoses. Various benign and malignant tumors and hamartomas may complicate the clinical course of patients with the syndrome. Commonly encountered tumors include hemangiomas, lymphangiomas and lipomas. Tumors of the genital tract occur less often. Bilateral ovarian cystadenomas are regarded as having diagnostic value in Proteus syndrome when occurring within the first two decades of life. We describe a 3-year-old girl with Proteus syndrome who developed bilateral paraovarian villoglandular endometrioid cystadenomatous tumors of borderline malignancy (low malignant potential) of the broad ligament. Desmoplastic tumor implants, presumably noninvasive, were present in biopsies from the pelvic floor, cul-de-sac and omentum. This is the first recognized example of a cystic borderline epithelial tumor of the female genital tract and the first paraovarian tumor reported in a patient with Proteus syndrome. Previously reported tumors and cystic lesions involving the female genital tract and the male genital tract in patients with Proteus syndrome are reviewed. We suspect that specific testicular and paratesticular tumors may prove to have the same diagnostic value in Proteus syndrome as do bilateral cystic ovarian and paraovarian tumors. (+info)Protean PTEN: form and function. (4/31)
Germline mutations distributed across the PTEN tumor-suppressor gene have been found to result in a wide spectrum of phenotypic features. Originally shown to be a major susceptibility gene for both Cowden syndrome (CS), which is characterized by multiple hamartomas and an increased risk of breast, thyroid, and endometrial cancers, and Bannayan-Riley-Ruvalcaba syndrome, which is characterized by lipomatosis, macrocephaly, and speckled penis, the PTEN hamartoma tumor syndrome spectrum has broadened to include Proteus syndrome and Proteus-like syndromes. Exon 5, which encodes the core motif, is a hotspot for mutations likely due to the biology of the protein. PTEN is a major lipid 3-phosphatase, which signals down the PI3 kinase/AKT pro-apoptotic pathway. Furthermore, PTEN is a protein phosphatase, with the ability to dephosphorylate both serine and threonine residues. The protein-phosphatase activity has also been shown to regulate various cell-survival pathways, such as the mitogen-activated kinase (MAPK) pathway. Although it is well established that PTEN's lipid-phosphatase activity, via the PI3K/AKT pathway, mediates growth suppression, there is accumulating evidence that the protein-phosphatase/MAPK pathway is equally important in the mediation of growth arrest and other crucial cellular functions. (+info)Proteus syndrome: a natural clinical course of Proteus syndrome. (5/31)
A 16-year-old Korean male patient presented with macrodactyly, hemihypertrophy of the face and extremities, plantar cerebriform hyperplasia, a subcutaneous mass of the left chest, macrocephaly and verrucous epidermal nevi. These findings are consistent with Proteus Syndrome. The clinical features, etiology, management, natural course and differential diagnosis of this case are discussed. (+info)A 39-bp deletion polymorphism in PTEN in African American individuals: implications for molecular diagnostic testing. (6/31)
Germline mutations in the PTEN/MMAC1/TEP1 tumor suppressor gene cause Cowden syndrome (CS), a hereditary hamartoma-tumor syndrome with an increased risk of breast, thyroid, and endometrial cancers, and seemingly unrelated developmental disorders, such as Bannayan-Riley-Ruvalcaba (BRR) syndrome, Proteus, and Proteus-like syndromes. Data to date suggest that irrespective of the clinical presentation, the identification of a PTEN mutation should trigger medical management which includes cancer surveillance. Clinic-based molecular diagnostic testing for germline PTEN mutations has been available for at least 2 years. This study reports on the finding of a previously unobserved heterozygous alteration (IVS7-15-->53del39) found in an African American individual who had features of CS. Further investigation revealed that 12 of 42 (28.6%) African American controls, but not individuals of Caucasian or Japanese origin, also carried this heterozygous 39-bp deletion in PTEN. Due to its location immediately upstream of the splicing site of exon 8, this polymorphism could be mistaken for a deleterious mutation in the PTEN. (+info)Overgrowth syndromes: is dysfunctional PI3-kinase signalling a unifying mechanism? (7/31)
Studies in drosophila and animal models have shown that the phosphoinositide-3-kinase (PI3-kinase) axis plays a central role in normal development, defining the number and size of cells in tissues. Dysfunction of this pathway leads to growth anomalies and has been established to play a key role in the pathogenesis of Cowden syndrome and tuberous sclerosis. It is probable that dysfunction of this pathway is the basis of other disorders especially those typified by asymmetric overgrowth. (+info)Unilateral proteus syndrome. (8/31)
Proteus syndrome is a complex developmental abnormality. It is characterized by both hypertrophic and hypoplastic changes. Deformities have been occasionally found to be localized in one half of the body in head or digit but presence of all signs in one half of the body in a wide spread manner is not reported in the literature. We report the case for its unusual presentation of unilateral localization of signs. (+info)Proteus Syndrome is a rare genetic disorder characterized by progressive overgrowth of skin, bones, muscles, and other tissues. It is caused by a mutation in the AKT1 gene, which regulates cell growth and division. The disorder is named after the Greek sea-god Proteus, who could change his shape at will, as people with this condition often have highly variable and asymmetric features.
The symptoms of Proteus Syndrome can vary widely from person to person, but may include:
1. Overgrowth of skin, which can lead to the formation of thickened, rough, or irregular areas of skin (known as "cerebriform" skin) and deep creases or folds.
2. Asymmetric overgrowth of bones, muscles, and other tissues, leading to differences in size and shape between the two sides of the body.
3. The formation of benign tumors (such as lipomas and lymphangiomas) and abnormal blood vessels.
4. Abnormalities of the brain, eyes, and other organs.
5. Increased risk of developing certain types of cancer.
Proteus Syndrome is typically diagnosed based on a combination of clinical features, medical imaging, and genetic testing. There is no cure for the disorder, but treatment is focused on managing symptoms and preventing complications. This may involve surgery to remove tumors or correct bone deformities, physical therapy to improve mobility and strength, and medications to control pain and other symptoms.
Facial asymmetry refers to a condition in which the facial features are not identical or proportionate on both sides of a vertical line drawn down the middle of the face. This can include differences in the size, shape, or positioning of facial features such as the eyes, ears, nose, cheeks, and jaw. Facial asymmetry can be mild and barely noticeable, or it can be more severe and affect a person's appearance and/or functionality of the mouth and jaw.
Facial asymmetry can be present at birth (congenital) or can develop later in life due to various factors such as injury, surgery, growth disorders, nerve damage, or tumors. In some cases, facial asymmetry may not cause any medical problems and may only be of cosmetic concern. However, in other cases, it may indicate an underlying medical condition that requires treatment.
Depending on the severity and cause of the facial asymmetry, treatment options may include cosmetic procedures such as fillers or surgery, orthodontic treatment, physical therapy, or medication to address any underlying conditions.
Lipomatosis is a medical term that refers to a condition characterized by the abnormal growth of fatty tumors (lipomas) in various parts of the body. These lipomas are benign, soft, and rubbery masses made up of adipose or fatty tissue. Unlike isolated lipomas, which occur as solitary lumps under the skin, lipomatosis is a more widespread condition where multiple lipomas develop in a diffuse pattern, affecting a particular region or area of the body.
There are different types of lipomatosis, including:
1. Diffuse Lipomatosis: This type involves the growth of numerous small lipomas distributed throughout the subcutaneous tissue, giving the affected area a doughy feel and appearance.
2. Adiposis Dolorosa or Dercum's Disease: A rare condition characterized by painful and tender lipomas typically found in the trunk, arms, and legs. It primarily affects middle-aged women and can be accompanied by other systemic symptoms like fatigue, memory problems, and depression.
3. Multiple Symmetric Lipomatosis (MSL) or Madelung's Disease: This condition predominantly affects middle-aged men, particularly those with a history of alcohol abuse. It is characterized by the growth of large, symmetrical lipomas around the neck, shoulders, and upper trunk, leading to a "horse collar" appearance.
4. Familial Multiple Lipomatosis: An inherited condition where multiple benign fatty tumors develop in various parts of the body, usually appearing during adulthood. It tends to run in families with an autosomal dominant pattern of inheritance.
Treatment for lipomatosis typically involves surgical removal of the lipomas if they cause discomfort, limit mobility, or negatively impact a person's appearance. Regular monitoring and follow-up appointments with healthcare professionals are essential to ensure that no malignant changes occur in the lipomas over time.
Hyperostosis is a medical term that refers to an excessive growth or abnormal thickening of bone tissue. It can occur as a result of various conditions, such as inflammation, injury, or genetic disorders. The extra bone growth can cause pain, stiffness, and limited mobility in the affected area. In some cases, hyperostosis can also lead to deformities and other complications.
There are several types of hyperostosis, including:
1. Diffuse idiopathic skeletal hyperostosis (DISH): This is a condition that affects the spine, causing calcification and stiffening of the ligaments and bone spurs to form along the edges of the vertebrae. It is often asymptomatic but can cause pain and stiffness in some cases.
2. Flat bone hyperostosis: This type of hyperostosis affects the flat bones of the body, such as the skull, ribs, and pelvis. It can be caused by various conditions, including Paget's disease, fibrous dysplasia, and certain types of cancer.
3. Focal hyperostosis: This refers to localized areas of bone overgrowth that can occur in response to injury, infection, or inflammation. Examples include heterotopic ossification (the formation of bone in soft tissues) and Freiberg's infarction (a condition that affects the joint surface of the metatarsal bones in the foot).
4. Hyperostosis frontalis interna: This is a benign condition that causes thickening of the inner table of the frontal bone in the skull. It is more common in women and often asymptomatic but can cause headaches and other symptoms in some cases.
Treatment for hyperostosis depends on the underlying cause and severity of the condition. In some cases, no treatment may be necessary. However, if the condition causes pain or limits mobility, various treatments may be recommended, such as medication, physical therapy, or surgery.
'Proteus' doesn't have a specific medical definition itself, but it is related to a syndrome in medicine. Proteus syndrome is a rare genetic disorder characterized by the overgrowth of various tissues and organs in the body. The name "Proteus" comes from the Greek god Proteus, who could change his form at will, reflecting the diverse and ever-changing nature of this condition's symptoms.
People with Proteus syndrome experience asymmetric overgrowth of bones, skin, and other tissues, leading to abnormalities in body shape and function. The disorder can also affect blood vessels, causing benign tumors called hamartomas to develop. Additionally, individuals with Proteus syndrome are at an increased risk of developing certain types of cancer.
The genetic mutation responsible for Proteus syndrome is found in the AKT1 gene, which plays a crucial role in cell growth and division. This disorder is typically not inherited but instead arises spontaneously as a new mutation in the affected individual. Early diagnosis and management of Proteus syndrome can help improve patients' quality of life and reduce complications associated with the condition.
Proteus mirabilis is a species of Gram-negative, facultatively anaerobic, rod-shaped bacteria that are commonly found in the environment, particularly in soil and water. In humans, P. mirabilis can be part of the normal gut flora but can also cause opportunistic infections, particularly in the urinary tract. It is known for its ability to produce urease, which can lead to the formation of urinary stones and blockages.
P. mirabilis infections are often associated with underlying medical conditions such as diabetes, kidney disease, or urinary catheterization. Symptoms of a P. mirabilis infection may include fever, cloudy or foul-smelling urine, and pain or burning during urination. Treatment typically involves antibiotics that are effective against Gram-negative bacteria, although resistance to certain antibiotics is not uncommon in P. mirabilis isolates.
Proteus vulgaris is a species of Gram-negative, facultatively anaerobic, rod-shaped bacteria that are commonly found in soil, water, and the human digestive tract. They are named after the Greek god Proteus, who could change his shape at will, as these bacteria are known for their ability to undergo various morphological changes.
Proteus vulgaris is a member of the family Enterobacteriaceae and can cause opportunistic infections in humans, particularly in individuals with weakened immune systems or underlying medical conditions. They can cause a variety of infections, including urinary tract infections, wound infections, pneumonia, and bacteremia (bloodstream infections).
Proteus vulgaris is also known for its ability to produce urease, an enzyme that breaks down urea into ammonia and carbon dioxide. This can lead to the formation of urinary stones and contribute to the development of chronic urinary tract infections. Additionally, Proteus vulgaris can form biofilms, which can make it difficult to eradicate the bacteria from infected sites.
In a medical context, identifying Proteus vulgaris is important for determining appropriate antibiotic therapy and managing infections caused by this organism.
A nevus, also known as a mole, is a benign growth or mark on the skin that is usually brown or black. It can be raised or flat and can appear anywhere on the body. Nevi are made up of cells called melanocytes, which produce the pigment melanin. Most nevi develop in childhood or adolescence, but they can also appear later in life. Some people have many nevi, while others have few or none.
There are several types of nevi, including:
* Common nevi: These are the most common type of mole and are usually small, round, and brown or black. They can be flat or raised and can appear anywhere on the body.
* Atypical nevi: These moles are larger than common nevi and have irregular borders and color. They may be flat or raised and can appear anywhere on the body, but are most commonly found on the trunk and extremities. Atypical nevi are more likely to develop into melanoma, a type of skin cancer, than common nevi.
* Congenital nevi: These moles are present at birth and can vary in size from small to large. They are more likely to develop into melanoma than moles that develop later in life.
* Spitz nevi: These are rare, benign growths that typically appear in children and adolescents. They are usually pink or red and dome-shaped.
It is important to monitor nevi for changes in size, shape, color, and texture, as these can be signs of melanoma. If you notice any changes in a mole, or if you have a new mole that is unusual or bleeding, it is important to see a healthcare provider for further evaluation.
Proteus infections are caused by the bacterium Proteus mirabilis or other Proteus species. These bacteria are gram-negative, opportunistic pathogens that can cause various types of infections, including urinary tract infections (UTIs), wound infections, and bacteremia (bloodstream infections). Proteus infections are often associated with complicated UTIs, catheter-associated UTIs, and healthcare-associated infections. They can be difficult to treat due to their ability to produce enzymes that inactivate certain antibiotics and form biofilms.
Proteus infections can cause symptoms such as fever, chills, fatigue, and discomfort in the affected area. In UTIs, patients may experience symptoms like burning during urination, frequent urges to urinate, and cloudy or foul-smelling urine. Wound infections caused by Proteus can lead to delayed healing, increased pain, and pus formation. Bacteremia can cause sepsis, a life-threatening condition that requires immediate medical attention.
Treatment for Proteus infections typically involves antibiotics, such as fluoroquinolones, trimethoprim-sulfamethoxazole, or carbapenems. The choice of antibiotic depends on the severity and location of the infection, as well as the patient's overall health status and any underlying medical conditions. In some cases, surgical intervention may be necessary to drain abscesses or remove infected devices like catheters.
Mosaicism, in the context of genetics and medicine, refers to the presence of two or more cell lines with different genetic compositions in an individual who has developed from a single fertilized egg. This means that some cells have one genetic makeup, while others have a different genetic makeup. This condition can occur due to various reasons such as errors during cell division after fertilization.
Mosaicism can involve chromosomes (where whole or parts of chromosomes are present in some cells but not in others) or it can involve single genes (where a particular gene is present in one form in some cells and a different form in others). The symptoms and severity of mosaicism can vary widely, depending on the type and location of the genetic difference and the proportion of cells that are affected. Some individuals with mosaicism may not experience any noticeable effects, while others may have significant health problems.