Progressive fibrodysplasia ossificans: case report and literature review

Abstract

Objective: To report a case of fibrodysplasia ossificans progressive (FOP), diagnosed in childhood, describe striking features of the disease, and reinforce the importance of early diagnosis and adequate preventive management. Case details: 7-year-old, brown, male patient, apparently healthy up to six years of age, evolving for approximately 1 year with multiple nodules in the dorsal region, initially of fibroelastic consistency, mobile and painful, with posterior and gradual stiffening of the affected parts and resolution of the associated pain. Functional limitation was highlighted, with reduced mobility of the axial skeleton. The vertebral column presented foci of ectopic ossification in the paravertebral musculature. There was also malformation of the hallux bilaterally, which were reduced in size and in valgus. Laboratory tests showed no changes, except for elevation of alkaline phosphatase. Radiographs showed heterotopic calcifications in the cervical and dorsal regions. Final considerations: Despite being discovered more than 300 years ago, general knowledge about FOP has advanced little. The dissemination of works like this contributes to patients being less and less exposed to unnecessary procedures, receiving early diagnosis, education about the disease and supportive treatment, thus minimizing the impacts on their quality of life.