Clinical and genetic distinctions of pediatric FMF patients with erysipelas-like erythema: Clinical and genetic profile Pediatrik FMF hastalarında erizipel benzeri eritem: Klinik ve genetik ayrımlar
Journal of Turkish Society For Rheumatology, cilt.18, sa.1, ss.24-30, 2026 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 18 Sayı: 1
- Basım Tarihi: 2026
- Doi Numarası: 10.4274/raed.galenos.2026.17894
- Dergi Adı: Journal of Turkish Society For Rheumatology
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.24-30
- Anahtar Kelimeler: ankle rash, erysipelas-like erythema, Familial Mediterranean fever, FMF attacks, MEFV mutation
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Objective: Familial Mediterranean fever (FMF) is an autosomal recessive autoinflammatory disease characterized by recurrent fever and serosal inflammation. Erysipelas-like erythema (ELE) is a pathognomonic but underrecognized skin manifestation. This study aimed to compare the clinical and genetic features of FMF patients with and without ELE. Methods: We retrospectively analyzed 2,325 pediatric FMF patients who were followed from 2016 to 2024 at University of Health Sciences Türkiye, Ümraniye Training and Research Hospital. Patients were grouped based on the presence (Group 1) or absence (Group 2) of ELE. Demographics, clinical data, MEFV mutations, and treatment features were compared. Results: ELE was present in 215 patients (9.25%). Group 1 had higher ages at symptom onset and at diagnosis (p=0.003). Musculoskeletal symptoms—including arthralgia (73.5%), arthritis (54.4%), myalgia (63.7%), leg pain (51.2%), and prolonged febrile myalgia (2.3%)—were significantly more frequent (all p<0.001). Chest pain and splenomegaly were also more common (p<0.05). No differences between groups were observed for fever and abdominal pain. Use of biologics (9.9% vs. 4.7%; p=0.0049) and colchicine doses (p<0.001) were higher in Group 1. Ankle arthritis was markedly more common (38.1% vs. 6.4%, p<0.001). M694V homozygosity was enriched in Group 1 (47.9% vs. 13.7%, p<0.001), whereas M694V/– and E148Q/– mutations were more common in Group 2. Conclusion: ELE is associated with a more severe FMF phenotype, characterized by predominant musculoskeletal involvement, ankle arthritis, increased treatment requirements, and delayed diagnosis. Its early recognition may aid in timely and personalized FMF management.