把网撒得更大：与扩张型心肌病相关的 PLACK 综合征病例报告。

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2024-07-12 DOI:10.1111/pde.15671

Cassidy Nguyen, Connor Hughes, Samantha Little, Alexander Carruth, Daniel Nolan, Jennifer Ruth

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引用次数: 0

摘要

PLACK 综合征（OMIM 616295）是一种罕见的遗传性皮肤病，与脱皮、白斑、尖锐点状角化病、颊炎和指关节垫有关，是由编码钙依赖性蛋白酶 calpastatin 的 CAST 基因功能缺失突变引起的。本病例报告重点介绍了一例 PLACK 综合征病例，该病例表现为手掌纹状角化过度以及危及生命的心肌病。我们回顾了 CAST 突变可能影响心脏功能的原因，并提高了人们对 PLACK 综合征与心脏表现之间潜在关联的认识。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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

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.

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来源期刊

Pediatric Dermatology 医学-皮肤病学

CiteScore

3.20

自引率

6.70%

发文量

269

审稿时长

1 months

期刊介绍： Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.