Acral peeling skin syndrome resulting from a novel homozygous mutation in the CSTA gene-A report of two cases

Abstract

Acral peeling skin syndrome is a rare genodermatosis characterized by asymptomatic peeling of the acral skin. It is usually caused by biallelic mutations in the gene TGM5. However, biallelic mutations in the CSTA gene have also been described to cause APSS with exfoliative ichthyosis, so far in only five pedigrees. Here, we report two new pedigrees, each with one patient having APSS, due to a novel CSTA mutation.

Keywords: CSTA; acral peeling skin syndrome; cystatin A; exfoliative ichthyosis.