Darier disease

Definition:

Darier disease is a skin disorder with keratotic papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead) and nail abnormalities. The disease usually starts at puberty and characterized by loss of cell-to-cell adhesion and abnormal keratinization. Darier disease is caused by mutations in ATP2A2, the gene encoding a sarco/endoplasmic reticulum Ca2+-ATPase. Because of some similarities in their etiopathology, Hailey-Hailey disease [DS:H00844] is often discussed together with Darier disease. Both diseases are autosomal dominantly inherited genodermatosis and are caused by abnormal epidermal calcium homeostasis.

References:

[1]. F Zeglaoui, et al. Dyskeratosis follicularis disease: case reports and review of the literature. J Eur Acad Dermatol Venereol. 2005 Jan;19(1):114-7. [Content Brief]

[2]. Katarzyna A Tomaszewska, et al. The coexistence of Darier's disease and Hailey-Hailey disease symptoms. Postepy Dermatol Alergol. 2017 Apr;34(2):180-183. [Content Brief]

[3]. Lucie Foggia, et al. Calcium pump disorders of the skin. Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):20-31. [Content Brief]

[4]. Magali Savignac, et al. Darier disease : a disease model of impaired calcium homeostasis in the skin. Biochim Biophys Acta. 2011 May;1813(5):1111-7. [Content Brief]

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