Congenital erythropoietic porphyria in two siblings.
Congenital erythropoietic porphyria is a very rare autosomal recessive disease, with mutation in the gene that codifies uroporphyrinogen-III synthetase, leading to porphyrin accumulation in many tissues, with marked skin photosensitivity. Two male siblings, aged 43 and 29, are described. The oldest shows severe sclerodermiform mutilation and the youngest exhibits initial involvement with hypertrichosis. Laboratory investigation shows polycythemia, increased urine uroporphyrins and coproporphyrins and increased erythrocyte porphyrins.
Jacobo
Andréia
A
Catholic University of Pelotas, Brazil.
Almeida
Hiram Larangeira de
HL
Jorge
Valéria Magalhães
VM
D000328:Adult; D006801:Humans; D008297:Male; D017092:Porphyria, Erythropoietic / Q000235:genetics* / Q000473:pathology