Fibrodysplasia ossificans progressiva: initial presentation with a preosseous lesion of the scalp and its MRI appearance

This case subject is a 1-year-old girl presenting with recurrent diffuse soft-tissue swelling of the scalp and periorbital region. Her family denied any known history of trauma. There was no obvious discoloration or local heat at the lesion. Magnetic resonance imaging (MRI) revealed diffuse soft tissue swelling of the scalp manifesting as high signal intensity on T2-weighted images and low signal intensity on T1-weighted images with diffuse enhancement after gadolinium-contrast administration. Biopsy yielded inconclusive pathological results. Fibrodysplasia ossificans progressiva (FOP) was not suspected until malformation of the patient’s toes was noticed. The scalp lesion underwent spontaneous regression, and subsequent radiographs of the chest and cervical spine revealed heterotopic ossifications of the neck and thorax. Early diagnosis of FOP is vital because trauma, unnecessary biopsy and intramuscular injection are known to cause acceleration of heterotopic ossifications. Previous studies reported diffuse soft tissue swelling at the posterior neck, thoracic wall or paraspinal region as preosseous lesions of FOP (Shiva Kumar et al. Neurology. 2010;74(6):e20, Merchant et al. Pediatr Radiol. 2006;36(10):1108-11, Hagiwara et al. AJR Am J Roentgenol. 2003;181(4):1145-7). To our knowledge, diffuse soft tissue swelling of the scalp as a preosseous lesion of FOP and associated MRI findings have not yet been reported. We believe that awareness of preosseous lesions presenting as diffuse soft tissue swelling, in addition to shortening and valgus deformity of the great toes, is an important diagnostic clue for establishing FOP.