Work

Pediatric Patient With Generalized Pustular Psoriasis With MEFV Gene Variant: Successful Treatment With Adalimumab

Year: 2025

Type: article

Abstract: Pediatric generalized pustular psoriasis (GPP) is a rare, severe, and potentially life-threatening variant of childhood psoriasis. Early-onset GPP has a well-known association with deficiency of the interleukin-36 receptor antagonist (DITRA). We present a case of a pediatric patient diagnosed with GPP found to have a heterozygous variant in the Mediterranean fever gene (MEFV) that was successfully treated with adalimumab. MEFV variants are a newly identified genetic risk factor for GPP. Our case highlights the need for ongoing genomic studies for childhood autoinflammatory diseases and the call for evidence-based management for these challenging cases.

Source: Pediatric Dermatology

DOI: 10.1111/pde.15955

Authors: David S. Kirwin, Travis Frantz, Colin F. Nolan, Vienna Katana

Institution: Naval Medical Center San Diego

Language: English

Topic: Psoriasis: Treatment and Pathogenesis

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $3,920