PLACK syndrome resulting from a novel homozygous variant in CAST
- 3 October 2020
- journal article
- case report
- Published by Wiley in Pediatric Dermatology
- Vol. 38 (1) , 210-212
Abstract
PLACK syndrome (OMIM 616295) is a form of generalized peeling skin syndrome (GPSS; OMIM 270300). It is an autosomal recessive genodermatosis caused by pathogenic mutations in CAST, which encodes calpastatin, an endogenous specific inhibitor of calpain, a calcium‐dependent cysteine protease. We present a 5‐year‐old girl diagnosed with PLACK syndrome with typical clinical features and homozygosity for a novel variant.Keywords
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