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CASTing the net wider: A case report of PLACK syndrome associated with dilated cardiomyopathy.

Authors :
Nguyen, Cassidy
Hughes, Connor
Little, Samantha
Carruth, Alexander
Nolan, Daniel
Ruth, Jennifer
Source :
Pediatric Dermatology. Nov2024, Vol. 41 Issue 6, p1211-1214. 4p.
Publication Year :
2024

Abstract

PLACK syndrome (OMIM 616295) is a rare genodermatosis associated with peeling skin, leukonychia, acral punctate keratosis, cheilitis, and knuckle pads and is caused by loss‐of‐function mutations in the CAST gene, which encodes calpastatin, a calcium‐dependent protease. This case report highlights a case of PLACK syndrome presenting with the unique findings of striate hyperkeratosis on the palms as well as life‐threatening cardiomyopathy. We review why CAST mutations might impact cardiac function and raise awareness of the potential association between PLACK syndrome and cardiac manifestations. [ABSTRACT FROM AUTHOR]

Details

Language :
English
ISSN :
07368046
Volume :
41
Issue :
6
Database :
Academic Search Index
Journal :
Pediatric Dermatology
Publication Type :
Academic Journal
Accession number :
181039042
Full Text :
https://doi.org/10.1111/pde.15671