Darier disease. Medical search. Frequent questions

Keratosis follicularis, also known as Darier disease (DD) or Darier-White disease, is an autosomal dominantly inherited genodermatosis characterized by greasy hyperkeratotic papules in seborrheic regions, nail abnormalities, and mucous membrane changes. (medscape.com)
White was first to recognize the genetic nature of keratosis follicularis (Darier disease) by noticing that a mother and her daughter were affected. (medscape.com)
Mutations in the gene ATP2A2 cause keratosis follicularis (Darier disease). (medscape.com)
Although more than 120 familial and sporadic mutations in ATP2A2 have been identified in keratosis follicularis (Darier disease) patients, attempts at genotype-phenotype correlation have not been successful. (medscape.com)
Family members with confirmed identical ATP2A2 mutations can exhibit differences in the clinical severity of disease, suggesting that other genes or environmental factors affect the expression of keratosis follicularis (Darier disease). (medscape.com)
[ 22 ] Investigators transfected a fibroblast cell line with 51 different mutations seen in keratosis follicularis (Darier disease) pedigrees. (medscape.com)
Abnormal keratinocyte-keratinocyte adhesion and aberrant epidermal keratinization are the primary histologic features of keratosis follicularis (Darier disease). (medscape.com)
[ 23 ] However, a significant correlation exists between the clinical presentation of keratosis follicularis (Darier disease) and the intensity of histologic features. (medscape.com)
Some studies of keratosis follicularis (Darier disease) have suggested that alterations in calcium regulation may affect the synthesis, folding, or trafficking of desmosomal proteins. (medscape.com)
[ 25 ] In particular, studies have revealed that keratosis follicularis (Darier disease) keratinocytes displayed abnormal trafficking of the desmosomal protein desmoplakin and abnormal expression of cytokeratins 10 and 14. (medscape.com)
The goals of pharmacotherapy for keratosis follicularis (Darier disease) are to reduce morbidity and prevent complications. (medscape.com)
Its mechanism of action on keratosis follicularis (Darier disease) is unknown. (medscape.com)
Darier's disease (DD, MIM 124200) also known as Darier-White disease and keratosis follicularis, is a rare autosomal dominant skin disorder characterized by warty papules and plaques in the seborrheic area (central trunk, flexures, scalp, and forehead). (hal.science)
Darier-White disease: Also known as, keratosis follicularis . (cosmeticlaserskinsurgery.com)
Darier's disease, also known as keratosis follicularis or dyskeratosis follicularis, is a rare disorder of keratinization. (intelligentdental.com)

In 30 to 79% of patients Abnormal hair morphology Acne conglobata Typically described as cystic acne Mutations in a single gene, ATP2A2, are responsible for the development of Darier's disease. (wikipedia.org)
A large number of mutant alleles of ATP2A2 have been identified in association with Darier's Disease. (wikipedia.org)
Variants (also called mutations) in the ATP2A2 gene cause Darier disease. (medlineplus.gov)
The linear form of Darier disease is caused by ATP2A2 gene variants that are acquired during a person's lifetime and are present only in certain cells. (medlineplus.gov)
Because the disease-causing mutations in ATP2A2 affect functional domains of the gene, the mechanism of autosomal dominant transmission is believed to be haploinsufficiency, in which a single wild-type functioning ATP2A2 is insufficient to prevent disease. (medscape.com)
Background: Darier's disease (DD) is an autosomal dominant skin disorder which causative gene, ATP2A2, is located atchromosome 12q23-24. (cdlib.org)
Darier disease is caused by a change (mutation) involving the ATP2A2 gene. (contact.org.uk)
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. (medscape.com)
Onozuka T, Sawamura D, Yokota K, Shimizu H. Mutational analysis of the ATP2A2 gene in two Darier disease families with intrafamilial variability. (medscape.com)
Novel splice-site and frameshift ATP2A2 mutations in Chinese patients with Darier disease. (medscape.com)
Seven novel mutations in the ATP2A2 gene of Austrian patients with Darier's disease. (medscape.com)
Godic A, Strazisar M, Zupan A, Korosec B, Kansky A, Glavac D. Darier disease in Slovenia: spectrum of ATP2A2 mutations and relation to patients' phenotypes. (medscape.com)
Huo J, Liu Y, Ma J, Xiao S. A novel splice-site mutation of ATP2A2 gene in a Chinese family with Darier disease. (medscape.com)
A (p.G211D) in the ATP2A2 gene and genotype-phenotype correlation in a large Chinese family with Darier's disease. (medscape.com)
The ATP2A2 gene in patients with Darier's disease: one novel splicing mutation. (medscape.com)
Ueo D, Hamada T, Hashimoto T, Hatano Y, Okamoto O, Fujiwara S. Late-onset Darier's disease due to a novel missense mutation in the ATP2A2 gene: a different missense mutation affecting the same codon has been previously reported in acrokeratosis verruciformis. (medscape.com)
Novel ATP2A2 mutations in a large sample of individuals with Darier disease. (medscape.com)
Pengjun Z, Jianwen R, Biao Y. A novel missense mutation of ATP2A2 gene in a Chinese family with Darier disease. (medscape.com)
Miyabe C, Mitsuhashi Y, Saito M, Tsuboi R. Novel mutation in the ATP2A2 gene in a Japanese Darier's disease patient with extremely hyperkeratotic lesions. (medscape.com)
Exon 12 of the ATP2A2 gene in patients with Darier disease: one novel mutation and one previously described. (medscape.com)
Pathogenic mutations in the ATP2A2 gene encoding the sarcoplasmic/endoplasmic reticulum Ca(2+) ATPase (SERCA) 2 gene underlie the disease. (hal.science)
Dhitavat J et al (2003) Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease. (altmeyers.org)

Darier's disease (DAR) is a rare, inherited skin disorder that presents with multiple greasy, crusting, thick brown bumps that merge into patches. (wikipedia.org)
The most common complaint associated with the disease is itching, with exacerbations attributed to heat, sweating, sunlight, lithium, steroid therapy, stress, and menstruationObjectives: We report a patient with DD treated with topical diclofenac sodium 3%.Methods: We report a 33-year-old patient with Darier's Disease. (cdlib.org)
Can medical cannabis help Darier's Disease? (leafydoc.com)
Medicinal marijuana is also known for its anti-inflammatory properties for the skin, which can help with Darier's disease. (leafydoc.com)
Identification of a novel mutation in a Chinese patient with mild Darier's disease. (medscape.com)
Based on the clinical and histological findings, we diagnosed the patient as having unilateral Darier's disease. (elsevierpure.com)
Therapeutic Options for the Treatment of Darier's Disease: A Comprehensive Review of the Literature. (nih.gov)
Acantholysis or dyskeratosis are absent (in contrast to Darier's disease). (altmeyers.org)
Hopf G (1932) On the keratoses occurring in Darier's disease on the hands and feet. (altmeyers.org)

Similar to psoriasis cases, distinct white streaks and spots on nails can point to chronic kidney disease. (clevelandclinic.org)
Eczema (31.4%), pyoderma (14.36%), fungal infection (9.7%) and psoriasis (5.39%) were the major skin disease. (e-ijd.org)

As a research and healthcare Institute, Imagine focuses on a wide variety of genetic diseases, studying all aspects of from basic research to translational medicine with an ultimate aim of developing new approaches to therapy including gene therapy and gene editing. (institutimagine.org)
Genetics of Mitochondrial Disorders / Disease gene identification using omics technologies, pathophysiology and deciphering disease mechanisms, evidence-based clinical trials in mitochondrial diseases, gene therapy of Friedreich ataxia and POLG-related diseases. (institutimagine.org)

Other features of Darier disease include nail abnormalities, such as red and white streaks in the nails with an irregular texture, and small pits in the palms of the hands and soles of the feet. (medlineplus.gov)
Other symptoms of Darier disease include red and white streaks in the nails with a brittle texture and small pits in the palms and soles. (leafydoc.com)
Darier disease causes red and white streaks on the nails and V-shaped notches to form on the tips of the nails. (msdmanuals.com)
Patients with Darier disease can have nails with red and white streaks and a distal V-shaped nick. (msdmanuals.com)

In a different study, in which researchers systematically analyzed mutations identical to those found in patients with Darier disease, mutant SERCA2 protein aggregates were found to cause stress to the endoplasmic reticulum, subsequently inducing cell apoptosis. (medscape.com)
Protein aggregation of SERCA2 mutants associated with Darier disease elicits ER stress and apoptosis in keratinocytes. (medscape.com)

Mild forms of the disease are the most common, consisting solely of skin rashes that flare up under certain conditions such as high humidity, high stress, or tight-fitting clothes. (wikipedia.org)
On occasion, people with Darier disease may have neurological disorders such as mild intellectual disabilities, epilepsy, and depression . (medlineplus.gov)
People with Darier disease may occasionally develop a mild cognitive disability, learning and behavioral difficulties, epilepsy, and depression. (leafydoc.com)
After surgical drainage, antimicrobial thera- mild skin infections to acute life-threatening diseases py was initiated with intravenous cefuroxime. (cdc.gov)
Alterations in the precise, intricate dance of corneocyte production and desquamation may lead to diseases ranging from mild forms of acral peeling skin to profound disorders such as Netherton syndrome. (aad.org)

Other skin disorders that may be associated with eczema herpeticum include Darier disease, pemphigus foliaceus, and benign familial pemphigus (Hailey-Hailey disease). (racgp.org.au)

Bchetnia M, Charfeddine C, Kassar S, Zribi H, Guettiti HT, Ellouze F. Clinical and mutational heterogeneity of Darier disease in Tunisian families. (medscape.com)
New mutations of Darier disease in Tunisian patients. (hal.science)

Significant variability in disease severity between members of the same family carrying the same mutation was also reported by this study, suggesting that genetic modifiers contribute to the phenotypic penetrance of certain mutations. (wikipedia.org)
However, there is significant variability in disease severity in how the mutations are expressed even within families that have the same mutation. (wikipedia.org)
Our findings provide further evidence for the genetic heterogeneity of DD in Tunisia and that most mutations involved in this disease are family specific. (hal.science)

Some people with the linear form of this condition have the nail abnormalities that are seen in people with classic Darier disease, but these abnormalities occur only on one side of the body. (medlineplus.gov)

A form of Darier disease known as the linear or segmental form is characterized by blemishes on localized areas of the skin. (medlineplus.gov)
Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease. (medscape.com)
Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues. (medscape.com)

It is an autosomal dominant disorder discovered by French dermatologist Ferdinand-Jean Darier. (wikipedia.org)
Property "Glossary-Definition" (as page type) with input value "is an autosomal dominant disorder discovered by French dermatologist Ferdinand-Jean Darier. (dermoscopedia.org)

Pro602Leu) mutation differentiates acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. (medscape.com)
Sun CW et al (2020) Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease. (altmeyers.org)

Centers for Disease Control and Prevention. (cdc.gov)
The Centers for Disease Control and Prevention (CDC) cannot attest to the accuracy of a non-federal website. (cdc.gov)
Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. (cdc.gov)

Clinical symptoms of the disease:[citation needed] Seborrhoeic areas This is defined as areas where excess oil and sebum is released. (wikipedia.org)
Usually Darier disease is diagnosed by its clinical appearance, family history and a skin biopsy (removal of skin tissue for examination). (contact.org.uk)
Institut Imagine (Institute for Genetic Diseases) is inviting applications for group leader positions in multiple fields corresponding to already existing integrated clinical and scientific programs. (institutimagine.org)
Their projects are deeply entangled with clinical units and referral centres for rare diseases affiliated to the institute. (institutimagine.org)

Fragile or poorly formed fingernails Nail disease leading to V-shaped nicks at the edge of the nail. (wikipedia.org)
The process, keratinization, is the same as well healthy skin cells are converted into fingernails, except with Darier-White disease, it happens in other places along the skin. (cosmeticlaserskinsurgery.com)

Hafner O et al (1997) Acrokeratosis verruciformis-like changes in Darier disease. (altmeyers.org)

Also called koilonychia, rough nails with ridges can exist in the presence of kidney disease. (clevelandclinic.org)

Individuals with Darier disease are often susceptible to both bacterial and viral skin infections. (contact.org.uk)
It is commonly used for treating and healing infections including gum disease, acne and other skin infections. (zenmed.com)

Although advances in molecular genetics have revolutionized our understanding of the pathogenesis of disease, the road to developing topical therapies based on these discoveries is in its infancy. (aad.org)
The Institute includes over 600 staff members in 28 laboratories organized in integrated care and research programs addressing genetics, immunology and infectious diseases, haematology, nephrology, developmental defects, neurosciences and bioinformatics. (institutimagine.org)

Retinoids in the treatment of skin diseases in the light of the data of the Dermatology Clinic, Medical Academy, in Lódz]. (globale-dermatologie.com)

Drugs, infections, and diseases can cause discoloration of the nails (chromonychia). (msdmanuals.com)

Molecular characterization of 11 Italian patients with Darier disease. (medscape.com)

Cutaneous manifestations of systemic disease may be the initial complaint that causes patients to seek out a healthcare provider. (medscape.com)
SSc is a systemic connective tissue disease characterized by vasomotor instability, fibrosis, and immunologic disturbances, as well as by atrophy of the skin, subcutaneous tissue, muscles, and internal organs. (medscape.com)

however, this nail abnormality has been reported in various other chronic diseases including Crohn disease, cirrhosis, pellagra, and Kawasaki disease. (msdmanuals.com)

Can medical marijuana help patients with symptoms of Darier Disease? (leafydoc.com)
Le pourcentage de CD44 dans les lymphocytes T périphériques était significativement plus élevé chez les patients que chez les témoins, comme détecté par la cytométrie en flux. (who.int)
En outre, il y avait une aug- mentation significative de la forme soluble du c-kit dans le sérum des patients atteints de pemphigus vulgaire actif par rapport aux témoins. (who.int)
Parallel to these changes there was a considerable improvement in the disease activity in all aspirin- treated patients, as well significant repigmentation in two at the end of the study period. (e-ijd.org)
Treatment of severe acne with isotretinoin in patients with inflammatory bowel disease. (globale-dermatologie.com)
NSF is a fibrotic disease of the skin and internal organs that develops in patients with renal insufficiency after exposure to gadolinium-based contrast agents (GBCAs). (medscape.com)
That same day, he was transferred infection control practices when examining and treating to hospital B, a tertiary care referral hospital, for neurologic patients with suspected infectious diseases. (cdc.gov)

Infection hypertension, coronary artery disease, and noninsulin- dependent diabetes mellitus. (cdc.gov)

Darier disease is a rare genetic disorder that causes a skin rash and appears mostly in adolescence. (clevelandclinic.org)

Chronic Kidney Disease Chronic kidney disease (CKD) is long-standing, progressive deterioration of renal function. (msdmanuals.com)

Researchers do not know if these conditions, which are common in the general population, are associated with the genetic changes that cause Darier disease, or if they are coincidental. (medlineplus.gov)

This also means that someone who is born to one parent with DAR has a 50% chance of inheriting the mutant allele and having the disease. (wikipedia.org)

Darier disease is a skin condition characterized by wart-like blemishes on the body. (medlineplus.gov)
Darier disease is a genetic skin condition. (contact.org.uk)
Darier Disease - A Multi-organ Condition? (medicaljournalssweden.se)

Cutaneous leishmaniasis (CL) is an endemic disease in Iraq that is caused by protozoan infection. (bvsalud.org)

Currently, no cases of people with the linear form of Darier disease passing it on to their children have been reported in the scientific literature. (medlineplus.gov)
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases. (cdc.gov)

These side-to-side lines can be a symptom of acute kidney disease. (clevelandclinic.org)

Diseases2

Chemicals and Drugs1

Keratosis15

ATP2A222

Darier's Disease9

Psoriasis2

Gene2

White streaks4

SERCA22

Mild5

Benign familial pemphigus1

Tunisian2

Mutations3

Abnormalities1

Segmental3

Dermatologist2

Hopf2

Centers for Diseas3

Clinical4

Fingernails2

Acrokeratosis verruciformis1

Ridges1

Skin infections2

Genetics2

Dermatology1

Infections1

Molecular1

Systemic2

Nail1

Patients7

Coronary artery1

Disorder1

Chronic kidney1

Researchers1

Mutant1

Condition3

Cutaneous1

Literature2

Acute1