PLACK syndrome resulting from a novel homozygous variant in CAST

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: CAST; Genodermatoses; PLACK syndrome; acral punctate keratoses; cheilitis; genetic diseases/mechanisms; knuckle pads; leukonychia; peeling skin syndrome.