An adult case of atypical familial Mediterranean fever (pyrin‐associated autoinflammatory disease) similar to adult‐onset Still’s disease

Abstract

Key Clinical Message We present a 55‐year‐old woman with periodic fever and symptoms similar to adult‐onset Still's disease (AOSD). She had a heterogeneous mutation of the MEFV gene and colchicine was effective. Atypical familial Mediterranean fever (pyrin‐associated autoinflammatory disease) should be considered in patients with periodic fever accompanied by symptoms similar to AOSD.

Dermatomyositis‐like eruptions and fasciitis with novel compound heterozygous MEFV mutations: Newly recognized features of a variant of familial Mediterranean fever

“…A variety of other atypical cutaneous eruptions have also been reported, including urticaria and maculopapular eruption with heterozygous mutations of MEFV. 9,10 Given this literature data, atypical skin manifestations of FMF might be related to combinations of MEFV mutations. Although about 25% of FMF patients complain of muscle pain, 11 the precise mechanism remains unknown.…”

Familial Mediterranean Fever Mimicking Metastatic Crohn's Disease

“…FMF can have various cutaneous features which include an erysipelas-like skin eruption that occurs in 12%–40% of patients as well as urticaria, diffuse erythema, maculopapular eruption, and subcutaneous nodules. 4 , 15 Skin biopsy of these lesions may show heavy neutrophil infiltrates. 16 By contrast, skin involvement in MCD typically appears as cutaneous ulcerations and plaques, and these skin lesions usually occurs on skin folds and legs.…”

“…However, the cutaneous lesions seen in MCD histologically reveal noncaseating granulomas while FMF has erysipelas-like erythema with histology revealing lymphocytic and neutrophilic infiltration. 4,5 We report a case of FMF with clinical symptoms and histologic findings that closely resemble MCD.…”