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Rash and Non‐Infectious Systemic Inflammation in an Infant With Autosomal Dominant Anhidrotic Ectodermal Dysplasia With Immunodeficiency

Year: 2026

Type: article

Abstract: ABSTRACT We present a child with autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency (AD‐EDA‐ID) due to a pathogenic missense variant in NFKBIA presenting with atypical cutaneous manifestations. Our patient was born with a shiny ichthyotic rash on her extremities, developing into a pustulo‐vesicular and papulo‐vesicular rash. Skin biopsy showed interface vacuolar dermatitis. The rash improved with corticosteroids and resolved post‐haematopoietic stem cell transplant (HSCT). Clinicians should consider this diagnosis in treatment‐resistant eczematous/vesicular rashes in infancy, especially if systemic non‐infectious inflammation present.

Source: JEADV Clinical Practice

DOI: 10.1002/jvc2.70485

Authors: A. Cassidy, S. Collins, I. Farombi‐Oghuvbu, M. McAleer, M. McDermott, M. Slatter, A. Flinn, T. R. Leahy

Institutions: Trinity College Dublin, Children's Health Ireland at Crumlin, Our Lady of Lourdes Hospital, Royal Victoria Infirmary, Great North Children's Hospital

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

Open Access status: gold

Estimated APC paid: $2,310

OpenAlex ID: W7225225848

FWCI:

Cites: 15

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