罕见的化脓性汗腺炎和高igd综合征共存纯合MVK V377I和复合杂合MEFV （M680I/E148Q）突变

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2025-10-05 DOI:10.1111/pde.70063

Gamze Tas-Aygar, Müzeyyen Gönül, Emine Nur Sunar Yayla, Haktan Bağış Erdem, Selda Pelin Kartal

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引用次数: 0

摘要

我们报告一例罕见的12岁女孩化脓性汗腺炎（HS）和高免疫球蛋白D综合征（HIDS）共存的病例，其中包含纯合MVK V377I突变和复合杂合MEFV突变，两者均被归类为致病性。尽管对阿达木单抗和阿那那单抗有部分反应，但卡那金单抗治疗可以完全缓解发热发作和HS病变。本病例强调了il -1β介导的炎症在综合征性HS发病机制中的重要性，并强调了多基因贡献的作用。早期识别和有针对性的治疗可以改善重叠自身炎症患者的预后。

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Rare Coexistence of Hidradenitis Suppurativa and Hyper-IgD Syndrome With Homozygous MVK V377I and Compound Heterozygous MEFV (M680I/E148Q) Mutations.

We report a rare case of a 12-year-old girl with the coexistence of hidradenitis suppurativa (HS) and hyperimmunoglobulin D syndrome (HIDS), harboring a homozygous MVK V377I mutation and compound heterozygous MEFV mutations, both classified as pathogenic. Despite a partial response to adalimumab and anakinra, complete remission of both febrile episodes and HS lesions was achieved with canakinumab therapy. This case emphasizes the importance of IL-1β-mediated inflammation in the pathogenesis of syndromic HS and highlights the role of multigenic contributions. Early recognition and targeted treatment may improve outcomes in patients with overlapping autoinflammatory conditions.

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来源期刊

Pediatric Dermatology 医学-皮肤病学

CiteScore

3.20

自引率

6.70%

发文量

269

审稿时长

1 months

期刊介绍： Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.