红角化皮病-心肌病综合征：扩展DSP突变谱超越脯氨酸取代。

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2025-10-14 DOI:10.1111/pde.70048

Sepideh Hamzehlou, Ryland D Mortlock, Caroline Echeandia-Francis, Jing Zhou, Chao Xing, Nnenna G Agim, Keith A Choate, Donald A Glass

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引用次数: 0

摘要

红角皮病心肌病（EKC）综合征是一种罕见的常染色体显性遗传病，以全身性红角皮病和进行性扩张性心肌病为特征，由丝胞蛋白（DSP） SR6结构域的致病变异引起。我们报告了2例EKC在苯丙氨酸位置590 （F590S和F590V）上有新的错义DSP变异，扩大了突变谱，超出了脯氨酸取代。免疫染色显示桥粒体蛋白定位被破坏。一名患者在接受ustekinumab治疗后表现出显著的临床改善。这些发现强调了早期心脏监测的必要性，并支持IL-12/23p40抑制作为EKC的潜在治疗策略。

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Erythrokeratodermia-Cardiomyopathy Syndrome: Expanding the DSP Mutational Spectrum Beyond Proline Substitutions.

Erythrokeratodermia cardiomyopathy (EKC) syndrome is a rare autosomal dominant disorder characterized by generalized erythrokeratoderma and progressive dilated cardiomyopathy, caused by pathogenic variants in the SR6 domain of desmoplakin (DSP). We report two cases of EKC with novel de novo missense DSP variants at phenylalanine position 590 (F590S and F590V), expanding the mutational spectrum beyond proline substitutions. Immunostaining demonstrated disrupted desmosomal protein localization. One patient showed significant clinical improvement with ustekinumab therapy. These findings underscore the need for early cardiac monitoring and support IL-12/23p40 inhibition as a potential therapeutic strategy in EKC.

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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.