关键词: 汗孔角化症, 临床表型, 基因型

Abstract: 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.

Key words: porokeratosis, clinical phenotype, genotype