[Sporadic porphyria cutanea tarda: a case report in a Moroccan man].
This report describes a case of sporadic porphyria cutanea tarda involving a 38-year-old Moroccan man. Clinical diagnosis was based on characteristic features, i.e., facial hypertrichosis and bullous lesions lasting four months during the summer of 2000 followed by macular scarring on the dorsal surfaces on the hands. Three well-known precipitating factors were noted, i.e., sun, ethanol and hepatitis C virus infection. Laboratory diagnosis was based on dark red urine and elevated serum and urine uroporphyrin levels. Enhanced uroporphyrin production was due to urodecarboxylase deficiency in the liver. Urodecarboxylase activity in red blood cells and serum ferritin level were normal. The patient is heterozygous for the His63Asp HFE gene mutation associated with hereditary hemochromatosis. The photoprotective effect of melanin in this dark-skinned patient failed to offset uroporphyrin-induced photosensitivity. Avoidance of sun, ethanol and phlebotomy have prevented recurrences.
Guennoun
N
N
Service de Biochimie, Faculté de Médecine de Marrakech, service de Gastro-entérologie, CHU Mohamed VI de Marrakech, Marseille.
Gerolami-Colombani
V
V
Sebti
A
A
Aquaron
R
R
D000328:Adult; D003937:Diagnosis, Differential; D006432:Hemochromatosis / Q000150:complications / Q000235:genetics; D006801:Humans; D008297:Male; D010787:Photosensitivity Disorders / Q000473:pathology* / Q000503:physiopathology; D017119:Porphyria Cutanea Tarda / Q000473:pathology* / Q000503:physiopathology; D014578:Uroporphyrins / Q000378:metabolism / Q000652:urine
D014578:Uroporphyrins