Two novel SSH1 mutations in Chinese patients with disseminated superficial actinic porokeratosis and Immunohistochemical analysis of Anti-Slingshot homolog 1 antibody in one typical patient.

Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis exhibiting an autosomal dominant mode. It is characterized by multiple small, annular, keratotic lesions that are located predominantly on sun-exposed areas of the skin .Up to now, six loci have been reported to be linked to DSAP .Beside the mutations in the mevalonate pathway genes MVK, PMVK, MVD and FDPS , mutations in SSH1, SART3 and SLC17A9 have also been suggested to be responsible for DSAP .However, it is suspected that SSH1 is probably not causal to DSAP for it is not confirmed in other previous studies. This article is protected by copyright. All rights reserved.