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Darier disease

Journal

JOURNAL OF DERMATOLOGY
Volume 43, Issue 3, Pages 275-279

Publisher

WILEY-BLACKWELL
DOI: 10.1111/1346-8138.13230

Keywords

ATP2A2; Darier disease; pathogenesis; review; sarco; endoplasmic reticulum ATPase type 2

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Darier disease (DD) is a type of inherited keratinizing disorder that exhibits autosomal dominant inheritance. DD is caused by the mutations of ATP2A2, which encodes an endoplasmic reticulum calcium pump, sarco/endoplasmic reticulum ATPase type 2 (SERCA2). DD often develops in childhood, persists through adolescence, and causes small papules predominantly in seborrheic areas such as the face, chest and back. Further, scales and scabs may gradually develop. DD may be accompanied by non-dermal symptoms, including psychiatric symptoms. Histologically, DD is characterized by corps ronds and grains in addition to suprabasal cleavage. There are no currently validated curative treatments available for DD, with the majority of cases treated symptomatically. Despite demonstrating efficacy in the treatment of DD, the use of oral retinoids has been limited due to the association with various adverse effects.

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