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Darier disease
Author(s) -
Takagi Atsushi,
Kamijo Maya,
Ikeda Shigaku
Publication year - 2016
Publication title -
the journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.9
H-Index - 65
eISSN - 1346-8138
pISSN - 0385-2407
DOI - 10.1111/1346-8138.13230
Subject(s) - endoplasmic reticulum , darier's disease , disease , cleavage (geology) , medicine , biology , genetics , paleontology , fracture (geology)
Darier disease ( DD ) is a type of inherited keratinizing disorder that exhibits autosomal dominant inheritance. DD is caused by the mutations of ATP 2A2 , which encodes an endoplasmic reticulum calcium pump, sarco/endoplasmic reticulum ATP ase type 2 ( SERCA 2). 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.