HEPATOERYTHROPOIETIC PORPHYRIA

Introduction. Hepatoerylhropoietic porphyria is a rare congenital form of porphyria with a biochemical pattern of porphyria cutanea tarda. T he disease is caused by defect in uroporphyrinogen decarboxylase. Case report. A 3-year-old girl was born to healthy consanguineous parents. From birth she had bloody urine and developed photosensitivity with b ullae al 1 year of age. Clinical examination revealed scars resulting from bullae, hypertrichosis of the face and members and abnormal pigme ntation. Uroporphyrin and coproporphyrin levels in the urine and eryth rocyte protoporphyrin level were elevated. Uroporphyrinogen decarboxyl ase activity was 37.5 p. 100 of the control, and was 82.5 p. 100 in th e mother and normal in the father. Discussion. This case of uroporphyr inogen decarboxylase deficiency in a child and her parents was not as severe as reported in other cases in the literature, confirming the he terogenous nature of hepatoerythropoietic porphyria. It is possible th at in this case, the mutation was different than in previous cases.