Pérez-Elizondo AD, Sánchez-Castillo JL

Language: Spanish
References: 6
Page: 36-38
PDF size: 109.60 Kb.

ABSTRACT

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 I in 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 and treatment requires multidisciplinary collaboration. A case of erythropoietic porphyria with classical dermatological clinical presentation is reported.

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