TY - JOUR TI - A newly diagnosed South African case of congenital erythropoietic porphyria AU - Das, Sweta AU - Gunduz, Ozge AU - Modi, Zateen AU - Modi, Deepak T2 - Our Dermatology Online AB - Congenital Erythropoietic Porphyria (CEP) is a rare disease due to the marked deficiency of uroporphyrinogen III synthase (UROS) enzyme, which leads to the accumulation of uroporphyrin 1 and coproporphyrin 1 isomers. We report a 3-year-old girl presenting with a one-year history of sun induced blistering skin lesions born to a HIV-positive mother in South Africa. She had systemic disease as evidenced by a severe hemolytic anemia and splenomegaly. The biochemical fraction analysis of porphyrines in urine and stool samples confirmed our clinical diagnosis. The UROS enzyme defect in red blood cells and fibroblast can be cured via stem cell transplantation. Our patient is on the waiting list for bone marrow transplant. CEP has a multisystemic involvement including cutaneous, ocular, skeletal and hematological complications, requiring a multidisciplinary management approach. DA - 2020/01/02/ PY - 2020 DO - 10.7241/ourd.20201.8 DP - DOI.org (Crossref) VL - 11 IS - 1 SP - 38 EP - 40 J2 - Our Dermatol Online LA - en SN - 20819390 UR - http://www.odermatol.com/issue-in-html/2020-1-8-porphyria/ Y2 - 2020/01/01/11:15:38 ER -