Severe osteopenia in congenital erythropoietic porphyria

Congenital erythropoietic porphyria is a rare disorder of porphyrin metabolism. The authors describe a 15-year-old boy in whom the radiologic manifestations of this disorder included the known features of osteopenia, acro-osteolysis, soft-tissue calcifications and widening of the diploic space, as well as the previously unreported findings of severe vertebral compression fractures, thoracic kyphosis, and "salt and pepper" skull.