Rare Coexistence of Hidradenitis Suppurativa and Hyper-IgD Syndrome With Homozygous MVK V377I and Compound Heterozygous MEFV (M680I/E148Q) Mutations
Pediatric Dermatology, cilt.43, sa.2, ss.398-401, 2026 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 43 Sayı: 2
- Basım Tarihi: 2026
- Doi Numarası: 10.1111/pde.70063
- Dergi Adı: Pediatric Dermatology
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE, Academic Search Ultimate (EBSCO), Biomedical Reference Collection: Corporate Edition (EBSCO), Health Research Premium Collection (ProQuest)
- Sayfa Sayıları: ss.398-401
- Anahtar Kelimeler: canakinumab, hidradenitis suppurativa, hyperimmunoglobulin D syndrome, IL-1 beta
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.