Familial Mediterranean fever variant with repeated atypical skin eruptions

Abstract

Familial Mediterranean fever (FMF) is characterized by self-limited bouts of fever and polyserositis. Skin involvement is not common in FMF, and erysipelas-like erythema is found to be the most frequent skin eruption which is often accompanied by arthritis and fever, and disappears within 12-72 h. We report a 40-year-old Japanese woman who presented with a 2-year history of recurrent fever with general fatigue, polyarthralgia and transient maculopapular eruptions on her lower extremities and trunk. The histological findings of the maculopapular eruption showed lymphocyte infiltration around the capillaries in the entire dermis. Mutation analysis showed a heterozygous E148Q-P369S mutation of MEFV. These findings suggested a diagnosis of late-onset FMF variant with atypical skin eruptions. The patient was successfully treated with colchicine. Thus, we should pay attention to repeated atypical skin eruptions for the early detection of atypical FMF.

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

“…Various cutaneous manifestations have also been reported, including urticaria, diffuse erythema on the palms and soles, and subcutaneous nodules . Maculopapular eruptions with erythema on the lower extremities and trunk were reported in a patient with atypical FMF associated with a heterozygous E148Q‐P369S mutation of MEFV . In our patient, urticaria, erythema on the fingers, a salmon‐pink rash, and erythema multiforme of the upper limb were observed during different febrile attacks.…”

“…[12][13][14] Maculopapular eruptions with erythema on the lower extremities and trunk were reported in a patient with atypical FMF associated with a heterozygous E148Q-P369S mutation of MEFV. 15 In our patient, urticaria, erythema on the fingers, a salmon-pink rash, and erythema multiforme of the upper limb were observed during different febrile attacks. A salmon-pink rash is typical in 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.…”

Cutaneous signs and mechanisms of inflammasomopathies

“…FMF skin lesions usually present as erysipelas-like, erythematous, tender, swollen and well-defined plaques on the lower extremity (figure 4). 88 Rare skin manifestations include scattered pruritic papules, pruritic urticarial lesions, palmoplantar erythema and Raynaud-like lesions 2 89 90. Infrequently, vasculitis (IgA-related, polyarteritis nodosa, small and medium-sized vessel diseases) occurs as well 2 91…”