Clinical Laboratory Approach in a case of Congenital Erythropoietic Porphyria

Abstract

Congenital erythropoietic porphyria is a rare inborn error of heme synthesis inherited as autosomal recessive disease. In the present instance, one year old female child born of consanguineous marriage presented with infected bullae and vesicles on the scalp and both upper extremities. There was history of hypersensitivity on exposure to sunlight. Milestones of physical and mental development were adequate. Test for detection of porphyrins in the bood, urine and stool were undertaken. The tests confirmed the presence of porphyrins in the samples and a diagnosis of congenital erythropoietic porphyria was made.