[Early forms of porphyria cutanea tarda. Apropos of 2 cases with a study of familial enzymatic deficiency and definition of the mode of genetic transmission].
The authors report two cases of cutaneous porphyria in children aged 6 and 9 respectively. The clinical and biochemical patterns were similar to those of porphyria cutanea tarda. The manifestations were drug-induced in both cases (by sulfonamides and griseofulvin in the first patient, and by hydantoin and benzodiazepine in the second). The clinical examination and the determination of porphyrins in the relatives showed no abnormalities. However, the study of the erythrocyte uroporphyrinogen decarboxylase showed 50 p. 100 reduced activity in the father and grandfather of the first patient, and in the second case's mother. Treatment with chloroquine (3 mg/kg/week) produced the total remission of both cases with no recurrences in 4 and 2 years respectively.
D002262:Carboxy-Lyases / Q000172:deficiency*; D002648:Child; D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D008297:Male; D011164:Porphyrias / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D011166:Porphyrins / Q000032:analysis; D012871:Skin Diseases / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D013997:Time Factors; D014575:Uroporphyrinogen Decarboxylase / Q000172:deficiency*
D011166:Porphyrins; D002262:Carboxy-Lyases; D014575:Uroporphyrinogen Decarboxylase
Les formes précoces de porphyrie cutanée tardive. A propos de deux observations avec étude du déficit enzymatique de la famille et précision du mode de transmission génétique.