新生儿炎症性皮肤和肠病1 (NISBD1): ADAM17纯合突变1例

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2025-09-18 DOI:10.1111/pde.70028

Hannah R Chang, Megan Bannon, Chloe Opper, Anne Slavotinek, Ghada Hijazi, Kimberly M Widmeyer, Erinn S Kellner, Mariam Iqneibi, Cheryl Bayart, Kalyani S Marathe, Catherine Bridges

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引用次数: 0

摘要

新生儿炎症性皮肤和肠病1 （NISBD1）是一种罕见的常染色体隐性遗传病，由ADAM17突变引起，其特征为慢性腹泻、发育不良、皮疹和复发性细菌感染。皮肤表现包括出生时出现胶膜，弥漫性鳞状红斑斑块和薄斑块，短暂的脓疱和/或红皮病。我们提出一个6周大的足月男性的情况下，弥漫性红色，局部侵蚀，脓疱爆发与慢性腹泻和失败茁壮成长。基因检测发现了一种新的纯合致病性ADAM17变异，p.(Glu150=) (GAG > GAA): c.450G > a，破坏了剪接供体位点，证实了NISBD1的诊断。

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Neonatal Inflammatory Skin and Bowel Disease 1 (NISBD1): A Case of ADAM17 Homozygous Mutation.

Neonatal inflammatory skin and bowel disease 1 (NISBD1) is a rare autosomal recessive disorder caused by mutations in ADAM17, characterized by chronic diarrhea, failure to thrive, rash, and recurrent bacterial infections. Cutaneous manifestations include the presence of a collodion membrane at birth, diffuse scaly erythematous patches and thin plaques, evanescent pustules, and/or erythroderma. We present a case of a 6-week-old full-term male with a diffuse red, focally eroded, pustular eruption in association with chronic diarrhea and failure to thrive. Genetic testing identified a novel, homozygous pathogenic ADAM17 variant, p.(Glu150=) (GAG > GAA): c.450G > A, disrupting the splice donor site and confirming the diagnosis of NISBD1.

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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.