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Article

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

Pediatric dermatology - 1 Jan 2026

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 40968583
DOI: 10.1111/pde.70028

Genes

ADAM17
GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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