Open AccessA case of congenital erythropoietic porphyria without hemolysis
Author(s) -
Arun Kumar De,
Krishnapada Das,
Archan Sil,
Swarnali Joardar
Publication year - 2013
Publication title -
indian journal of dermatology/indian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.395
H-Index - 36
eISSN - 1998-3611
pISSN - 0019-5154
DOI - 10.4103/0019-5154.117336
Subject(s) - hemolysis , photosensitivity , porphyria , heme , medicine , erythropoietic protoporphyria , endocrinology , porphyrin , enzyme , chemistry , biochemistry , protoporphyrin , physics , quantum mechanics
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 case of CEP with infancy onset blistering, photosensitivity, red colored urine and teeth along with scarring but without any feature of hemolysis