Indian Journal of Dermatology
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E–CASE REPORT
Year : 2013  |  Volume : 58  |  Issue : 5  |  Page : 407

A case of congenital erythropoietic porphyria without hemolysis


Department of Pediatric Medicine, Medical College, Kolkata, India

Correspondence Address:
Arun K De
Department of Pediatric Medicine, Medical College, Anandalok Housing Society, BB-50, Newtown, Kolkata
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0019-5154.117336

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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.


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