A case of congenital erythropietic porphyria

Tulika Rai, Prakriti Shukla

Abstract


Congenital erythropoietic porphyria (CEP) is a rare form of porphyria. It is an autosomal recessive disorder, which results from deficiency of enzyme 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) that 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 6-year-old male child presenting with CEP.

Keywords


Photosensitivity; Porphyria ; Autosomal recessive

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References


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