ArticleBMJ case reports2022
Pyoderma gangrenosum in a patient with familial Mediterranean fever and chronic inflammatory seronegative arthropathy: a unique triad.
Article in BMJ case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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2 authors at 2 institutions in 2 countries.
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Abstract
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.
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