Darier disease

Darier disease is an inherited skin disorder caused by impaired calcium signaling and cell adhesion, producing persistent, greasy, rough papules often on the trunk and scalp.

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ATP2A2: ATP2A2 is the gene encoding SERCA2, a calcium pump in the membrane of the endoplasmic reticulum. Pathogenic variants in this gene cause most cases of Darier disease.
Darier sign: Darier sign is the development of swelling and itching after rubbing certain skin lesions, classically in mastocytosis. Despite its name, this sign is distinct from Darier disease and can clarify a common terminology confusion.
Hailey–Hailey disease: Hailey–Hailey disease is an inherited skin disorder causing recurrent erosions and blisters, often in skin folds. Both diseases involve acantholysis, but Hailey–Hailey disease usually affects folds and causes erosions.
Nail disease: Nail disease is structural or functional abnormality of one or more nails. Longitudinal red or white bands and V-shaped notches can accompany Darier disease.
SERCA2: SERCA2 is a calcium-transporting ATPase that moves calcium from the cytoplasm into the endoplasmic reticulum. Loss of SERCA2 function disturbs calcium balance in affected skin cells.
Skin biopsy: A skin biopsy is the removal of a small skin sample for microscopic examination. Histology can reveal acantholysis and dyskeratosis that support diagnosis.
Grover disease: Grover disease is an acquired, often itchy eruption of papules on the trunk, with focal acantholysis on biopsy. Its trunk papules can resemble Darier disease, but it is usually acquired and transient.
Oral mucosa: The oral mucosa is the moist epithelial lining of the mouth. Small whitish papules may occur on the palate and other oral surfaces.
Acantholysis: Acantholysis is the loss of cohesion between epithelial cells, especially in the skin. It produces the characteristic gaps between keratinocytes in Darier disease.
Genetic testing: Genetic testing analyzes DNA to identify variants associated with inherited conditions. Testing ATP2A2 can confirm the molecular cause in some families.