Fibrodysplasia Ossificans Progressiva: A Case Report From the UAE

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare autosomal dominant disorder characterized by congenital malformation of the great toes and progressive heterotopic ossification of soft tissues, caused by mutations in the ACVR1 gene. Flare-ups are painful inflammatory episodes that may occur spontaneously or following minor trauma. The estimated incidence is rare, and to our knowledge, a genetically unconfirmed case has previously been reported in the United Arab Emirates. We report a 15-year-old Sudanese girl with genetically confirmed FOP, diagnosed at two years of age. She initially presented in infancy with painful shoulder restriction, followed by recurrent trauma- and infection-triggered flare-ups. Progressive heterotopic ossification led to jaw ankylosis, hip involvement with gait impairment, and eventual wheelchair dependence. During her most recent admission, she presented with painful right forearm swelling that was managed as cellulitis; this was later recognized as an FOP flare-up. Corticosteroid therapy was not initiated because she presented six days after symptom onset, whereas current recommendations support administration within 24 hours of flare-up onset. Management has primarily consisted of supportive care, physiotherapy for mobility preservation, and family education focused on trigger avoidance and early presentation to medical care at the onset of known flare-ups. To our knowledge, this case represents the first genetically confirmed reported case of FOP in the region. It underscores the importance of early recognition of flare-ups and timely presentation to optimize management and improve patient education in this rare condition.