汗孔角化症的临床表型及基因型研究进展

Clinical phenotype and genotype of porokeratosis

汗孔角化症是较少见的慢性遗传性皮肤病,依据临床表现的不同,可分为6种经典类型及多种新类型。家系遗传性汗孔角化症较散发病例更为常见。目前本病的研究热点为甲羟戊酸代谢通路相关基因的突变。本文就汗孔角化症的临床分型、遗传学研究进展进行了综述。

Porokeratosis,a rare chronic hereditary skin disease,can be classified into six classical types and several new types according to the clinical features. Familial porokeratosis is more common than sporadic cases. Recently,the mutation of the genes involved in the mevalonate metabolic pathway has become the research hotspot. This review summarizes the update on the clinical types,the genetic research of porokeratosis.