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PLACK syndrome resulting from a novel homozygous variant in CAST
Author(s) -
Boggs Jennifer M. E.,
Irvine Alan D.
Publication year - 2020
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14383
Subject(s) - genodermatosis , calpastatin , medicine , calpain , cysteine protease , genetics , dermatology , gene , protease , biology , enzyme , biochemistry
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.