E-mail ID : info@iamg.in
 
 
 
 

Online Submission
Click Here For Online Submission
Instructions for authors

Genetic Clinics
Editorial board

Get Our Newsletter
Subscribe

Send Your Feedback
Feedback Form

About Us
IAMG

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.
 
HTML Full Text  Download PDF