What question did this study set out to answer?

Investigate the clinical features of a novel homozygous ADAM17 mutation in a child with NISBD1.

April 24, 2026Pediatric Dermatology0 citations

Unusual Cutaneous and Mucosal Manifestations of Neonatal Inflammatory Skin and Bowel Disease Type 1 due to a Novel Homozygous ADAM17 Mutation

KMKittu MalhiGovernment Medical College and Hospital SSSukhdeep SinghPost Graduate Institute of Medical Education and Research PVPandiarajan Vignesh

Key Points

Investigate the clinical features of a novel homozygous ADAM17 mutation in a child with NISBD1.
Descriptive case report of a 4-year-old girl with a novel ADAM17 mutation.
Clinical evaluation of skin and mucosal manifestations associated with the mutation.
The patient exhibited unusual signs such as pyoderma gangrenosum-like ulcerations and mucosal involvement.
No gastrointestinal symptoms were present despite the typical associations with NISBD1.

Abstract

Neonatal inflammatory skin and bowel isease type 1 (NISBD1) is a rare autosomal recessive genodermatosis caused by pathogenic variants in ADAM17, a gene essential for epithelial development and cytokine regulation. Affected individuals typically present during infancy with severe cutaneous inflammation, recurrent infections, fragile hair, and variable gastrointestinal involvement. We report a 4-year-old girl with an unusual constellation of mucocutaneous manifestations associated with a novel homozygous ADAM17 mutation (c.436G>A; p.Gln146Lys), thereby expanding the known phenotypic spectrum of NISBD1. This case highlights atypical NISBD1 features, including pyoderma gangrenosum-like ulcerations, pyostomatitis-like mucosal involvement, annular atrophic scarring, and absence of bowel disease.

AIに質問

Bookmark

View Full Paper