Takagi Atsushi, Kamijo Maya, Ikeda Shigaku
Department of Dermatology and Allergology, Juntendo University Graduate School of Medicine, Tokyo, Japan.
J Dermatol. 2016 Mar;43(3):275-9. doi: 10.1111/1346-8138.13230.
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.
Darier病（DD）是一种遗传性角化障碍，呈常染色体显性遗传。DD由ATP2A2基因突变引起，该基因编码一种内质网钙泵，即2型肌浆网/内质网ATP酶（SERCA2）。DD通常在儿童期发病，持续至青春期，主要在面部、胸部和背部等皮脂溢出部位引起小丘疹。此外，可能会逐渐出现鳞屑和结痂。DD可能伴有非皮肤症状，包括精神症状。组织学上，除了基底上裂隙外，DD的特征还包括圆体和颗粒。目前尚无经证实有效的DD治愈性治疗方法，大多数病例采用对症治疗。尽管口服维甲酸在DD治疗中显示出疗效，但由于其与各种不良反应相关，其使用受到限制。
