Abstract

PEREZ-ELIZONDO, AD  and  SANCHEZ-CASTILLO, JL. ERYTHROPOIETIC PORPHYRIA. A CASE REPORT. Rev. argent. dermatol. [online]. 2019, vol.100, n.1, pp.86-95. ISSN 1851-300X.

Porphyrias are a group of disorders caused by defects in the synthesis pathway of heme. Congenital erythropoietic porphyria is characterized by uroporphyrinogen synthase deficiency, which causes accumulation of large amounts of uroporphyrin Iin all tissues; resulting in photosensitivity with mutilating skin lesions, erythrodontia, hemolytic anemia, splenomegaly, and bone fragility. Definitive diagnosis is based on demonstrating poor uroporphyrinogen synthase activity or determination of specific mutations in the respective gene; treatment requires multidisciplinary collaboration. A case of erythropoietic porphyria, with classical dermatological clinical presentation is reported.

Keywords : heme biosynthesis; porphyria; uroporphyrinogen-III synthase.