Pediatric Patient With Generalized Pustular Psoriasis With <i>MEFV</i> Gene Variant: Successful Treatment With Adalimumab
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.
Authors
- David S. Kirwin (ORCID: https://orcid.org/0000-0002-6148-4905)
- Colin F. Nolan
- Vienna G. Katana
- Travis Frantz
Institutions
- Naval Medical Center San Diego (US)
- Naval Hospital Jacksonville (US)
Publication Details
- Journal
- Pediatric Dermatology
- Published
- 2025-04-14
- DOI
- https://doi.org/10.1111/pde.15955
- Primary Topic
- Inflammasome and immune disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00