اريتروپويتيك پورفيرياي مادرزاي گزارش دو مورد

Congenital Erythropoietic Porphyria, Report of 2 Cases

Congenital Erythropoietin Porphyria (CEP) is a rare autosomal recessive disorder of the porphyrin metabolism caused by the homozygous defect of uroporphyrinogen III cosynthase. We report two brotherʹs aged 18 and 14 years with typical features of congenital erythropoietic porphyria in this article. They were born in Neishabour (Khorasan Province) and were admitted in Emam Reza Hospital dated 4.93 with clinical presentation such as skin lesions (Vesicular lesions on the exposed area of the body), reddish urine almost since birth mutilation and erythrodontia. The disease was first manifested in infancy and severe mutilating cutaneous photosensitivity eventually developed. The elder had anemia and splenomagaly was observed at the both patients. Laboratory findings indicated a large amount of porphyrins in urine analysis. The main histopathologic changes of CEP are dermal infiltrate with nonacantholytic subepidermal bullae. Histochemical examination showed deposition of PAS positive material in a per vascular distribution.