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Abstract
July to September 2020 | Vol. 13 | Issue 3 | 02-05 | |||
Congenital Erythropoietic Porphyria: A Case Report and Approach to Cutaneous Porphyrias | |||
Sapna Sandal, Ratna Dua Puri | |||
Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India | |||
Address for Correspondence Email: ratnadpuri@yahoo.com | |||
Abstract Porphyrias are inherited disorders of the heme biosynthetic pathway characterized by overproduction of precursor metabolites preceding the defective step. Congenital erythropoietic porphyria (CEP) is a rare cutaneous porphyria presenting in childhood. We describe here a child with the classical clinical presentation of CEP, who presented with history of photosensitivity, blisters, and erythrodontia beginning in the 2nd year of life. | |||
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