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.

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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
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article

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

David S. Kirwin, Colin F. Nolan, Vienna G. Katana, Travis Frantz
Pediatric Dermatology
Inflammasome and immune disorders
article

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

David S. Kirwin, Colin F. Nolan, Vienna G. Katana, Travis Frantz
article en

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.

Pediatric DermatologyVol. 42(6)
Naval Medical Center San Diego (US), Naval Hospital Jacksonville (US)
Good health and well-being
Openalex Percentile: Top 93%
Inflammasome and immune disorders
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