Hepatoerythropoietic porphyria.
A patient with hepatoerythropoietic porphyria had typical cutaneous manifestations: photosensitivity with blistering and mild scarring, and hypertrichosis. Biochemically elevated levels of protoporphyrins in erythrocytes, uroporphyrins in urine, and coproporphyrins in feces are markers of this form of porphyria. A family study confirmed that he was homozygous for a defect of uroporphyrinogen decarboxylase. A trial with hydroxychloroquine produced no improvement.
Department of Dermatology, Turin University, Italy.
S
S
Bundino
G C
GC
Topi
A M
AM
Zina
L
L
D'Allessandro Gandolfo
D002648:Child; D004920:Erythropoiesis; D006801:Humans; D006886:Hydroxychloroquine / Q000627:therapeutic use; D008107:Liver Diseases / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D008297:Male; D011164:Porphyrias / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism
D006886:Hydroxychloroquine