Skeletal abnormalities in a case of congenital erythropoietic porphyria.

Congenital erythropoietic porphyria (CEP) is an extremely rare disorder of porphyrin metabolism and characterized by the deposition of porphyrins in soft tissue, bone and teeth. Reported radiographic findings of CEP include acro-osteolysis, scleroderma-like calcifications and demineralization of bone. We report a case of CEP which showed, in addition to these findings, multiple osteolytic and sclerotic lesions.

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