Morbus Darier

By Dr. Pascal Bafteh · last updated 09/2026

Definition & Pathogenesis

• Darier disease (Darier-White disease, Keratosis follicularis) = autosomal-dominant genodermatosis with acantholysis + dyskeratosis.
• Gene / inheritance: Causative gene is ATP2A2 (encodes SERCA2 = sarco-/endoplasmic Ca²⁺-ATPase 2) on chromosome 12q23-q24, autosomal-dominant.
• Pathomechanism: Mechanism is disturbed Ca²⁺ transport into ER → defective desmosome assembly → suprabasal acantholysis + dyskeratosis (corps ronds + grains).
• Penetrance ~100 %, expressivity however variable; mosaic form as segmental type 1/2 possible.

Clinical Presentation

• Age of onset: Typical first manifestation period is puberty / 2nd decade of life (10–20 yrs).
• Location: Classic distribution is seborrheic (sternum, interscapular, forehead, scalp, nasolabial fold).
• Skin morphology: Efflorescences are brownish, hyperkeratotic, confluent papules with greasy scaling + malodorous.
• Acral signs: Pathognomonic acral findings are palmoplantar pits + V-shaped nail notches.
• Mucosa: whitish plaques (cobblestone) on the hard palate.
• Course: chronic, flares with UV / heat / sweating / infections.
• Comorbidity: Frequently associated are neuropsychiatric comorbidities (depression, bipolar disorder, epilepsy, learning disability) + increased suicide risk.

Diagnostics

• Clinical + family history (autosomal-dominant).
• Histology: Pathognomonic are suprabasal acantholysis + dyskeratosis (corps ronds in stratum spinosum + grains in stratum corneum) + lacunae.
• DIF: negative (DD to pemphigus).
• Genetics: ATP2A2 sequencing for confirmation, especially for genetic counseling + mosaic differentiation.

Sources (selection)

1. Sakuntabhai ATP2A2 mutations Darier 1999
2. Burge Darier disease review 2005

More hereditary skin diseases

• Epidermolysis bullosa simplex

Note: This page is intended for medical education and does not replace diagnosis or treatment decisions in individual cases. Treatment and follow-up content is available in the app.