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Congenital Erythropoietic Porphyria: A Case Report

Congenital Erythropoietic Porphyria (CEP) is a rare autosomal recessive disorder of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen Ill cosynthase. We report a two - year old ease with typical features of Congenital Erythropoietic Porhyria (CEP), living in Mashhad and his parents arc close relatives. The disease was first manifested in infancy with muscle cramping of limb (pseudoseizure) and severe mutilating cutaneous photosensitvity eventually developed. Other signs like red urine, generalized vesicles and bullac (photosensitive lesions), red fluorescent teeth , splenomegally , and anemia gradually emerged . Laboratory findings indicated a large amount of porphyrins in urine analysis . The main histopathologic changes of CEP are dermal infiltrate with nonacantholytic subepidermal bullac. Histochemical examination showed deposition of PAS Oositive materal in a periveascular distribution .