A. Laorr et A. Greenspan, SEVERE OSTEOPENIA IN CONGENITAL ERYTHROPOIETIC PORPHYRIA, Canadian Association of Radiologists journal, 45(4), 1994, pp. 307-309
Congenital erythropoietic porphyria is a rare disorder of porphyrin me
tabolism. The authors describe a 15-year-old boy in whom the radiologi
c manifestations of this disorder included the known features of osteo
penia, acroosteolysis, 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 pe
pper'' skull.