Porokeratosis

Definition:

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).

References:

[1]. Hongzhou Cui, et al. Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis. J Med Genet. 2014 Oct;51(10):699-704. [Content Brief]

[2]. P Sertznig, et al. Porokeratosis: present concepts. J Eur Acad Dermatol Venereol. 2012 Apr;26(4):404-12. [Content Brief]

[3]. Sheng-Quan Zhang, et al. Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet. 2012 Oct;44(10):1156-60. [Content Brief]

[4]. Zhenghua Zhang, et al. Genomic variations of the mevalonate pathway in porokeratosis. Elife. 2015 Jul 23;4:e06322. [Content Brief]

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