Darier disease is an autosomal-dominant disorder of keratinization characterized by delayed onset and highly variable progressive skin manifestations that are occasionally associated with neuropsychiatric manifestation.
The disease usually begins between the ages of 6 and 20 years, with a peak onset during puberty. The rash is typically exacerbated by heat and light.
The primary lesions are keratotic red to brown papules, which develop in a “seborrheic” distribution involving the trunk, scalp margins, face and neck.
In Darier disease the nails often show distal notches, subungual hyperkeratosis and red and white longitudinal bands. Marked nail dystrophies may evolve over time.
In oral mucosa, white grouped papules are found, initially on the palate or buccal mucosa but they may become very widespread.
Darier disease is caused by mutations in ATP2A2, a gene on chromosome 12 that encodes a calcium pump of the endoplasmic reticulum, facilitating intracellular calcium homeostasis.
Darier disease
