title: [Porphyria cutanea tarda in a 4-year-old child with uroporphyrinogen decarboxylase deficiency].
abstract: A 4 years old girl presents a typical case of patent form of cutaneous late porphyria with a reduced activity of the erythrocyte, uroporphyrinogen decarboxylase (UROD) genetically transmitted over 3 generations; a multifactor inheritance (HLA A3, a normal phenotype of alpha 1 antitrypsin, exogenous toxins, or viral infections) is discussed.
mesh_terms: D002262:Carboxy-Lyases / Q000172:deficiency*; D002648:Child; D005260:Female; D006801:Humans; D010375:Pedigree; D011164:Porphyrias / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology; D012871:Skin Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D014575:Uroporphyrinogen Decarboxylase / Q000172:deficiency*
chemical_list: D002262:Carboxy-Lyases; D014575:Uroporphyrinogen Decarboxylase
vernacular_title: Porphyrie cutanée "tardive" chez une enfant de 4 ans avec déficit en uroporphyrinogène décarboxylase.