MEFV公司
泛发性脓疱性银屑病
医学
阿达木单抗
银屑病
家族性地中海热
皮肤病科
儿科
免疫学
内科学
肿瘤坏死因子α
基因
遗传学
疾病
基因突变
突变
生物
作者
David S. Kirwin,Travis Frantz,Colin F. Nolan,Vienna G. Katana
摘要
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.
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