Darier-white disease

Preferred Label : Darier-white disease;

Symbol : DAR;

CISMeF acronym : DAR; DD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Keratosis follicularis; Darier disease; DD;

Included titles and symbols : Darier disease, acral hemorrhagic type; Darier disease, segmental;

Description : Darier-White disease, also known as keratosis follicularis, is an autosomal dominant skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead), palmoplantar pits, and distinctive nail abnormalities (Sakuntabhai et al., 1999). The prevalence of the disease had been estimated at 1 in 55,000. Onset is usually before the third decade, and penetrance is complete in adults, although expressivity is variable. Involvement may be severe, with widespread itchy malodorous crusted plaques, painful erosions, blistering, and mucosal lesions. Secondary infection is common. Sun, heat, and sweating exacerbate the disease. Darier disease never remits, but oral retinoids may reduce hyperkeratosis. Neuropsychiatric abnormalities, including mild mental retardation and epilepsy, have been described in association with Darier disease in a few families (Burge and Wilkinson, 1992); whether this is an association based on pleiotropism of the mutant gene or reflects coincidence is not clear. Histologic findings are (1) mild nonspecific perivascular infiltration in the dermis; (2) dermal villi protruding into the epidermis; (3) suprabasal detachment of the spinal layer leading to the formation of lacunae containing acantholytic cells; (4) in the more superficial epidermis, dyskeratotic round epidermal cells ('corps ronds'), the most distinctive feature; and (5) in the stratum corneum, 'grains' that resemble parakeratotic cells embedded in a hyperkeratotic horny layer. Electron microscopy reveals loss of desmosomal attachments, perinuclear aggregations of keratin filaments, and cytoplasmic vacuolization. Ultrastructural and immunologic studies suggest the disease results from an abnormality in the desmosome-keratin filament complex leading to a breakdown in cell adhesion.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATPase, Ca dependent, slow-twitch, cardiac muscle-2 gene (ATP2A2, 108740.0001);

Prefixed ID : #124200;

Details

Origin ID

124200;

UMLS CUI

C0022595;

Automatic exact mappings (from CISMeF team)
- AKR1C2 wt Allele [NCIt concept]
- ATP2A2 wt Allele [NCIt concept]
- Dargwa Language [NCIt concept]
- Darjeeling Zebrafish [NCIt concept]
- Death Diagnosis Domain [NCIt concept]
- Death diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Dentin dysplasia [ORDO Disease]
- Doctor of Divinity [NCIt concept]
- Drug Accountability Record [NCIt concept]
- aldo-keto reductase family 1 member C2 [ORDO Gene]
- anesthesia department, hospital [CISMeF resources Type]
- anesthesia department, hospital [MeSH Descriptor]
- darier disease, acral hemorrhagic type [MeSH concept]
- darier disease, acral hemorrhagic type [MeSH Supplementary Concept]
- darier disease, segmental [MeSH concept]
- darier disease, segmental [MeSH Supplementary Concept]
- diagnosis, differential [MeSH Descriptor]
- interdigital necrobacillosis [SNOMED Notion]
- keratosis follicularis [DO Concept]
- supine position [MeSH Descriptor]
- symbol withdrawn DAR [HGNC gene]
Currated CISMeF NLP mapping
- Darier Disease [NCIt concept]
- Darier disease [PASCAL descriptor]
- Darier disease [Disease (Nov.)]
- Darier disease [ICD-11 More detail]
- Darier disease [ORDO Disease]
- Darier disease (disorder) [SNOMED CT concept]
- Darier's disease [MedDRA LLT]
- Follicular keratosis (disorder) [SNOMED CT concept]
- Keratosis follicular [MedDRA Preferred Term]
- darier disease [MeSH Descriptor]
- darier disease [MeSH concept]
- keratosis follicularis [SNOMED Notion]
DO Cross reference
- keratosis follicularis [DO Concept]
Genes related to phenotype
- Atpase, ca(2+)-transporting, slow-twitch [OMIM gene]
HPO term(s)
- Acantholysis [HPO term]
- Acrokeratosis [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bipolar affective disorder [HPO term]
- Diaphoresis [HPO term]
- Electron microscopic abnormality of the skin [HPO term]
- Enlargement of parotid gland [HPO term]
- Hypermelanotic macule [HPO term]
- Intellectual disability, mild [HPO term]
- Longitudinal ridging [HPO term]
- Palmar pits [HPO term]
- Plantar pits [HPO term]
- Pruritus [HPO term]
- Ridged nail [HPO term]
- Schizophrenia [HPO term]
- Seizure [HPO term]
- Subungual hyperkeratotic fragments [HPO term]
- macules [HPO term]
ORDO concept(s)
- Darier disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Darier Disease [NCIt concept]
- Darier disease [ORDO Disease]
- Darier disease [PASCAL descriptor]
- Darier disease [Disease (Nov.)]
- Darier disease (disorder) [SNOMED CT concept]
- Darier's disease [MedDRA LLT]
- Keratosis follicular [MedDRA Preferred Term]
- darier disease [MeSH Descriptor]
- darier disease [MeSH concept]
- keratosis follicularis [SNOMED Notion]
- keratosis follicularis [DO Concept]

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