Year: 2018 I Volume: 2 I Issue: 1 I Page:

A case of congenital erythropietic porphyria

1Department of Dermatology & Venereology , Institute of Medical Sciences, B.H.U., Varanasi-221005.

Corresponding Author:
Dr Tulika Rai,
Assistant Professor
Department of Dermatology& Venereology,
Institute of Medical Sciences, B.H.U., Varanasi-221005
Email: raitulika@gmail.com


Congenital erythropoietic porphyria (CEP), is extremely rare and is autosomal recessive. The deficient enzyme is uroporphyrinogen III cosynthase (or uroporphyrinogen III synthase). Due to the impaired function of this enzyme, excessive amounts of particular porphyrins accumulate, particularly in the bone marrow, plasma, red blood cells, urine, teeth, and bones. Due to photosensitivity, after exposure to light, the photo-activated porphyrins in the skin cause bullae (blistering) and the fluid-filled sacs rupture, and the lesions often get infected. These infected lesions can lead to scarring, bone loss, and deformities. The hands, arms, and face are the most commonly affected areas. We report a 5 year old male child presenting with CEP. However, there was no hemolysis or hemolytic anemia at time of presentation. The diagnosis was made mainly on clinical presentation and increased total urinary porphyrin levels. Twenty-four- hour urinary levels of uroporphyrin and coproporphyrin were also raised. Detailed analysis of porphyrin levels in urine, feces couldnít be done because of financial constraints. It is ideal to go for skin biopsy, DIF and detailed biochemical investigations to make the correct diagnosis which is lacking in our case. In a resource poor setting, sometimes investigations canít be done so in our case, diagnosis was made mainly on clinical findings and few relevant investigations.

Key words: Photosensitivity, Porphyria, Autosomal Recessive