E-mail ID : info@iamg.in

Online Submission

Click Here For Online Submission
Instructions for authors

Genetic Clinics

Editorial board

Get Our Newsletter


Send Your Feedback

Feedback Form

About Us



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
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.
HTML Full Text  Download PDF