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
2. Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP. Congenital erythropoietic porphyria due to a mutation in GATA1: The first trans-acting mutation causative for a human porphyria. Blood. 2007;109:2618-21.
3. Darwich E, Herrero C. New developments in erythropoietic porphyrias. Actas Dermosifiliogr. 2013;104:212-9.
4. Wolff K, Goldsmith L, Katz S, Gilchrest B, Paller A, Leffell D. The porphyrias. Fitzpatrick’s Dermatology in General Medicine. Seventh edition. New York, McGraw-Hill; 2008. p. 1247-50.
5. Puy H, Gouya L, Deybach JC. Porphyrias. Lancet. 2010;375:924-37.
6. Mathews-Roth MM. Treatment of the cutaneous porphyrias. Clin Dermatol. 1998;16:295-8.
7. Tintle S, Alikhan A, Horner M, Hand J, Marie D. Cutaneous porphyrias: Treatment strategies. Int J Dermatol. 2014;53:3-24.
How to Cite
Downloads
Downloads
Published
How to Cite
Issue
Section
| Article metrics | |
|---|---|
| Abstract views | |
| Galley vies | |
| PDF Views | |
| HTML views | |
| Other views | |
