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 prese...

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Veröffentlicht in:	Pediatric dermatology 2021-01, Vol.38 (1), p.210-212
Hauptverfasser:	Boggs, Jennifer M. E., Irvine, Alan D.
Format:	Artikel
Sprache:	eng
Schlagworte:	acral punctate keratoses Calcium Calpain Calpastatin Case reports CAST cheilitis Child, Preschool Cysteine proteinase Female genetic diseases/mechanisms Genetic disorders Genodermatoses Genodermatosis Homozygote Humans knuckle pads leukonychia Medical diagnosis Mutation Pediatrics peeling skin syndrome PLACK syndrome Skin Diseases Syndrome
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Beschreibung
Zusammenfassung:	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.
ISSN:	0736-8046 1525-1470
DOI:	10.1111/pde.14383