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

被引：1

作者：

Nguyen, Cassidy ^{[1
]}

Hughes, Connor ^{[1
]}

Little, Samantha ^{[2
]}

Carruth, Alexander ^{[2
]}

Nolan, Daniel ^{[2
,3
]}

Ruth, Jennifer ^{[1
,2
,4
,5
]}

机构：

[1] Univ Texas Austin, Dell Med Sch, Dept Internal Med, Div Dermatol, 1301 Barbara Jordan Blvd,Suite 200A, Austin, TX 78723 USA

[2] Univ Texas Austin, Dell Med Sch, Austin, TX 78723 USA

[3] Univ Texas Austin, Dell Med Sch, Dept Pediat, Div Clin Genet, Austin, TX 78723 USA

[4] Dell Childrens Med Ctr, Div Pediat Dermatol, Austin, TX USA

[5] Univ Texas Austin, Dell Med Sch, Dept Pediat, Div Pediat Dermatol, Austin, TX 78723 USA

来源：

PEDIATRIC DERMATOLOGY | 2024年 / 41卷 / 06期

关键词：

cardiomyopathy; CAST; genodermatoses; palmoplantar keratoderma; PLACK; MYOCARDITIS;

D O I：

10.1111/pde.15671

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

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.

引用

页码：1211 / 1214

页数：4

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