A Case of Congenital Erythropoietic Porphyria without Hemolysis

@inproceedings{De2013ACO,
  title={A Case of Congenital Erythropoietic Porphyria without Hemolysis},
  author={Arun Kumar De and Kallol Das and Archan Sil and Swarnali Joardar},
  booktitle={Indian journal of dermatology},
  year={2013}
}
Porphyrias are group of disorders caused by deficiency of the enzymes in heme synthetic pathway. Congenital erythropoietic porphyria (CEP) is an extremely rare disease with mutation in the gene that codes for uroporphyrinogen III synthase leading to accumulation of porphyrin in different tissues and marked cutaneous photosensitivity. Here, we describe a… CONTINUE READING