沙利度胺治疗喉-甲-皮综合征。

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2025-10-06 DOI:10.1111/pde.70069

Ellen Chinchilli, Christopher J Yao, Maria R Cordisco

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引用次数: 0

摘要

喉-甲-皮肤综合征（LOCS）是结性大疱性表皮松解症的一种亚型，由影响层粘连蛋白332亚基的突变引起，该亚基改变表皮-真皮粘附。LOCS表型包括皮肤、眼部和喉部肉芽肿形成和瘢痕。治疗依赖于多学科的症状治疗，成功的疾病改善疗法很少有文献记载。在这里，我们描述了一位7岁的女性，她具有los的特征性表现，口服沙利度胺有明显的反应。

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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Laryngo-Onycho-Cutaneous Syndrome Managed With Thalidomide.

Laryngo-onycho-cutaneous syndrome (LOCS), a subtype of junctional epidermolysis bullosa, results from mutations affecting laminin-332 subunits which alter epidermal-dermal adhesion. LOCS phenotype includes cutaneous, ocular, and laryngeal granuloma formation and scarring. Management relies on multidisciplinary symptomatic care, and successful disease-modifying therapies are infrequently documented. Here, we describe a 7-year-old female with characteristic manifestations of LOCS who has had a significant response to oral thalidomide.

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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.