Darier White Disease

From Anvita Health Wiki

Contents 1 Epidemiology 2 Microscopic-pathology 3 Genetics 4 Clinical-manifestations 5 More General Terms 6 Internet Database 7 References

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

More General Terms

• skin disease (dermatologic disorder, dermatopathy, dermatosis)
• genetic disease of the skin (genodermatosis)

Internet Database

OMIM: 124200
OMIM: 108740

References

1. Sakuntabhai et al. Nature Genetics 21:271-7, 1999
2. OMIM 124200

Darier-White disease; keratosis follicularis