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

Pediatric dermatology - 1 Jan 2026

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41047723
DOI: 10.1111/pde.70063

Genes

MEFV
MVK

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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