Late-onset fibrodysplasia ossificans progressiva with atypical presentation: A case report

晚发性进行性骨化性纤维发育不良伴非典型表现:病例报告

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Abstract

Fribrodysplasia ossificans progressiva (FOP) is a rare genetic disease characterized by progressive heterotopic ossification of connective tissues, episodic flare-ups and bilateral deformities of the great toe (hallux valgus). As faulty tissue repair processes progressively calcify tissue, patients suffer from swelling and limited mobility in that area. We present a case of a 66-year-old woman who had initially presented at age 54 without the hallux valgus deformity or classic-type flare-ups. As there is currently no cure for FOP, management is mainly symptom control. Physicians should still consider FOP if imaging indicates progressive heterotopic ossification in the absence of hallux valgus in an older patient.

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