Darier-White disease; keratosis follicularis
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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
- 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
More general terms
- skin disease (dermatologic disorder, dermatopathy, dermatosis)
- genetic disease of the skin (genodermatosis)