PLACK syndrome resulting from a novel homozygous variant in CAST

Pediatr Dermatol. 2021 Jan;38(1):210-212. doi: 10.1111/pde.14383. Epub 2020 Oct 3.

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

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Female
  • Homozygote
  • Humans
  • Mutation
  • Skin Diseases*
  • Syndrome