Porokeratosis is a heterogeneous group of keratinization disorders that exhibit an autosomal dominant mode of inheritance. The histological hallmark that unifies all variants of PK is cornoid lamella, a column of tightly fitted parakeratotic cells. According to the number, size, and distribution of the lesions the following clinical forms of PK have been described; classic porokeratosis of Mibelli (PM), disseminated superficial porokeratosis (DSP), disseminated superficial actinic porokeratosis (DSAP), punctate porokeratosis (PP), porokeratosis palmaris et plantaris disseminata (PPPD), and linear porokeratosis (LP).
Human diseases [BR:br08402]
Congenital malformations of skin
Human diseases in ICD-11 classification [BR:br08403]
14 Diseases of the skin
Skin disorders involving specific cutaneous structures
Disorders of the epidermis and epidermal appendages
Disorders of epidermal keratinisation
Zhang SQ, Jiang T, Li M, Zhang X, Ren YQ, Wei SC, Sun LD, Cheng H, Li Y, Yin XY, Hu ZM, Wang ZY, Liu Y, Guo BR, Tang HY, Tang XF, Ding YT, Wang JB, Li P, Wu BY, Wang W, Yuan XF, Hou JS, Ha WW, Wang WJ, Zhai YJ, Wang J, Qian FF, Zhou FS, Chen G, Zuo XB, Zheng XD, Sheng YJ, Gao JP, Liang B, Li P, Zhu J, Xiao FL, Wang PG, Cui Y, Li H, Liu SX, Gao M, Fan X, Shen SK, Zeng M, Sun GQ, Xu Y, Hu JC, He TT, Li YR, Yang HM, Wang J, Yu ZY, Zhang HF, Hu X, Yang K, Wang J, Zhao SX, Zhou YW, Liu JJ, Du WD, Zhang L, Xia K, Yang S, Wang J, Zhang XJ
Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis.