Medical School, University of Cyprus Medical School, Nicosia, Cyprus.
Department of Medicine, University of Arizona College of Medicine Phoenix, Phoenix, Arizona, USA
BMJ Case Rep. 2022 Jul 13;15(7):e250060. doi: 10.1136/bcr-2022-250060.
Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterised by recurrent fever attacks and serositis. Chronic inflammatory seronegative arthropathy affects the spine and peripheral joints and rarely coexists with FMF. Pyoderma gangrenosum (PG) is a neutrophilic dermatosis that manifests as an ulcerative skin disease that uncommonly occurs in patients with FMF. In this case report, we describe a male patient in his 60s with a history of FMF and chronic inflammatory seronegative arthropathy who developed ulcerative skin lesions consistent with PG. A genetic evaluation revealed a pathogenic variant (V726A) and two variants of uncertain significance (F479L and E167D) mutations in the MEFV gene. We hypothesised that the triad of FMF, chronic inflammatory seronegative arthropathy and PG might be linked to the V726A variant, while the presence of the other two variants may have amplified the clinical presentation. Further studies are warranted to confirm our observation.
家族性地中海热（FMF）是一种以反复发作的发热和浆膜炎为特征的自身炎症性疾病。慢性炎症性血清阴性关节炎影响脊柱和外周关节，很少与 FMF 共存。坏疽性脓皮病（PG）是一种中性粒细胞皮肤病，表现为溃疡性皮肤病，在 FMF 患者中罕见发生。在本病例报告中，我们描述了一名 60 多岁的男性患者，有 FMF 和慢性炎症性血清阴性关节炎病史，出现符合 PG 的溃疡性皮肤病变。基因评估显示 MEFV 基因存在致病性变异（V726A）和两个意义不明的变异（F479L 和 E167D）。我们假设 FMF、慢性炎症性血清阴性关节炎和 PG 的三联征可能与 V726A 变异有关，而其他两个变异的存在可能放大了临床表现。需要进一步的研究来证实我们的观察。
