Congenital Erythropoietic Porphyria: A Comprehensive Case Report and Review of Management Strategies

Abstract

Congenital Erythropoietic Porphyria (CEP) is a rare, autosomal recessive disorder of porphyrin metabolism,
also known as Gunther's disease or “pink-tooth” disease. The mutation in the heme biosynthesis pathway
leads to the accumulation of immature porphyrin intermediates (protoporphyrin) in various tissues of the
human body. CEP is a rare genetic disorder, occurring in fewer than 1 in 1,000,000 children, with fewer than
280 cases reported worldwide. Due to impaired enzyme function, excessive amounts of porphyrin
accumulate in various tissues, such as plasma, bone marrow, red blood cells, urine, teeth, and bones. We report a
7 years old boy with multiple blisters, scarring and elevated liver enzymes .He had orthodontia, red colored urine
and severe anaemia. His skin biopsy showed deposition of porphyrin under dermis thus confirming diagnosis of
Cogenital Erythropoietic Porphyria.
Keywords: Gunther's Disease, Congenital Erythropoietic Porphyria (CEP), , Erythrodontia, , Wood's Lamp