[Renal function and electrolyte transport in a case of fibrodysplasia ossificans progressiva].
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A 2-year-old boy presented with low-grade fever and multiple progressive painful swellings over upper dorsal trunk and supraclavicular region with progressive stiffening of skin for the last 2 months. Examination revealed dysmorphic face, proximally placed thumb and bilateral hallux valgus. Hence, a diagnosis of Fibrodysplasia Ossificans Progressiva was entertained.
Fibrodysplasia ossificans progressiva is an extremely rare genetic disorder characterized by the formation of a heterotopic skeleton that is histologically, biomechanically, and metabolically indistinguishable from the normotopic skeleton. Isolated cases of traumatic and pathologic fractures have been reported in the normotopic skeleton of patients who have fibrodysplasia ossificans progressiva, but to the authors' knowledge there have been no detailed reports of traumatic fractures in the heterotopic skeleton of patients who have this disease. Reported here are 2 children with fibrodysplasia ossificans progressiva who sustained traumatic fractures of heterotopic bone around the elbows. In both children, the fractures healed uneventfully with normal-appearing callus. These 2 extremely rare cases suggest that the biologic response to fractures in the heterotopic skeleton appears indistinguishable from that in the normotopic skeleton in patients who have fibrodysplasia ossificans progressiva.
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