Twenty-two novel mutations in a Chinese cohort of 137 patients with porokeratosis were identified using microfluidics (Fluidigm).

Porokeratosis (PK) is a group of epidermal keratinization disorder exhibiting an autosomal dominant mode of inheritance, including five clinical subtypes: disseminated superficial actinic porokeratosis (DSAP), disseminated superficial porokeratosis (DSP), classic porokeratosis of Mibille (PM), porokeratosis palmaris et plantaris disseminate (PPPD) and linear porokeratosis (LP).To date, seven genes, MVK, MVD, FDPS, PMVK, SSH1, SART3 and SLC17A9 in six genetic loci, have been reported to be involved in the PK development, accounting for about 70% of patients [[1]]. Besides, three of the LP patients carried one PMVK mutation and two MVD mutations respectively, which is consistent with previous reports [[2], [5]]. [Extracted from the article]