DARIER DISEASE (aka KERATOSIS FOLLICULARIS)

Darier disease (DD), also known as keratosis follicularis, is a rare autosomal dominant genodermatosis characterized by keratotic, verrucous and greasy papules in the seborrheic areas.

• Onset is usually in teenage or young adult years.
• The causative gene codifies ATP2A2, which encodes a sarcoplasmic/endoplasmic reticulum calcium-ATPase, SERCA2, involved in epidermal differentiation and intercellular communication.
• Individuals with Darier disease have a sixfold increased risk of being diagnosed with intellectual disability
• Individuals with DD have an elevated risk of being diagnosed with type 1 Diabetes (risk ratio, 1.74), but not type 2 diabetes.

Clinical

Onset is usually in teenage or young adult years. The patient presents with scaly, waxy, greasy papules in the seborrheic areas. It very commonly involves the chest but may occur anywhere. Heat, sunlight and sweating often aggravate the condition.

Nearly 50% of patients with DD develop skin-colored flat-topped papules that are clinically and histologically indistinguishable from acrokeratosis verruciformis of Hopf, an allelic disorder of DD caused by variants in the ATP2A2 gene.

Patients are at high risk for secondary infection, e.g. bacteria, yeast. Rarely, herpes simplex infection may supervene--so called Kaposi varicelliform eruption.

Mosaic Darier Disease

Mosaic form of Darier disease is a rare subtype of Darier disease and is also described as segmental, zosteriform, linear, or localized. It presents later in life (eg, in the fourth or fifth decade) and lacks other classic features

RegionalDerm

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