Congenital erythropoietic porphyria
Keywords:
congenital erythropoietic porphyria, photosensitivity, porphyrins.Abstract
Congenital erythropoietic porphyria is an autosomal recessive disease caused by enzymatic deficiency of uroporphyrinogen III synthase. Porphyrias are a group of metabolic disorders of the haem biosynthesis pathway. Congenital erythropoietic porphyria is characterized by the most severe degree of photosensitivity and disability due to mutilations of fingers. Diagnosis is made based on clinical findings and confirmed by the identification of high titers of urine porphyrins. We report the first case of a woman with congenital erythropoietic porphyria reported in the Colombian literature.
Author Biographies
Luis Fernando González
Médico, residente de Dermatología, Universidad El Bosque, Bogotá, D.C., Colombia
Adriana Motta
Médica dermatóloga; jefe, Departamento de Dermatología, Hospital Simón Bolívar; directora, Programa de Postgrado en Dermatología, Universidad El Bosque, Bogotá, D.C., Colombia
References
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