ELOVL1伴c.494C>T从头变异体的神经鱼鳞病和Dupilumab缓解的严重瘙痒。

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2025-03-11 DOI:10.1111/pde.15904

Danielle Marcoux, Sophie-Anne Savard, Victor Kokta, Elsa Rossignol, Luis H Ospina

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引用次数: 0

摘要

我们报告了一位神经鱼鳞病患者，ELOVL1变异与严重瘙痒相关，他对杜匹单抗治疗反应良好。我们的病例是已知的第三例报道这种新生杂合显性变异的患者。严重进行性瘙痒严重损害生活质量的特点是独特的这些报告。在多次治疗失败后，他的临床和主观上对单克隆抗体dupilumab反应良好。

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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Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab.

We report a patient with neuroichthyosis with an ELOVL1 variant associated with severe pruritus who responded well to dupilumab therapy. Our case is the third known patient reported with this de novo heterozygous dominant variant. The feature of severe progressive pruritus greatly impairing quality of life is unique among these reports. After multiple treatment failures, he responded well clinically and subjectively to the monoclonal antibody dupilumab.

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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.