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Darier-White disease; keratosis follicularis
Epidemiology:
- prevalence: 1 in 55,000
Microscopic pathology:
- hyperkeratosis
- parakeratosis
- dyskeratototic cells (corps ronds)
- acantholysis: suprabasal detachment of the spiny layer leading to the formation of lacunae containing acantholytic cells
- mild nonspecific dermal perivascular infiltration
- dermal villi protruding into the epidermis
Electron microscopy:
- loss of desmosomal attachments
- perinuclear aggregates of keratin filaments
Genetics:
- autosomal dominant
- defect in Ca+2 ATPase of endoplasmic/sarcoplasmic reticulum
Clinical manifestations:
- onset usually before third decade
- keratotic/bullous skin lesions in seborrheic areas
- exacerbated by sun, heat, sweating
- some association with neuropsychiatric symptoms
- mild mental retardation
- increased prevalence of seizures
- psychosis, affective disorder
General
genetic disease of the skin (genodermatosis)
skin disease (dermatologic disorder, dermatopathy, dermatosis)
Database Correlations
OMIM correlations
MORBIDMAP 108740
References
- Sakuntabhai et al. Nature Genetics 21:271-7, 1999
- OMIM 124200