Congenital erythropoietic porphyria with two mutations of the uroporphyrinogen III synthase gene (Cys73Arg, Thr228Met)

Abstract

Congenital erythropoietic porphyria (CEP) is an autosomal recessive inborn error of metabolism that results from the markedly deficient activity of uroporphyrinogen III synthase (UROS). We describe a 14-year-old girl with red urine since infancy, progressive blistering and scarring of the skin, and moderate hemolytic anemia. After years of skin damage, her face is mutilated; she has a bald patch on the scalp, hypertrichosis of the neck, areas of skin darkening, and limited joint movements of the hands. Total urine excretion and fecal total porphyrin were both markedly raised above normal levels. Sequencing of the UROS gene identified two mutations causing CEP (Cys73Arg, Thr228Met). The patient lesions are progressing. Bone marrow transplantation and/or gene therapy are proposed as the next steps in her treatment. In brief, we describe a CEP with confirmed two pathogenic mutations, severe phenotype and discuss the various treatment options available.

Congenital erythropoietic porphyria with undescended testis

“…CEP is an extremely rare disorder of heme biosynthesis of which less than 100 cases are reported worldwide. [ 8 ] This autosomal recessive disorder's genetic defect lies in a mutation most commonly in the gene encoding for the UROS enzyme and rarely the GATA1 gene,[ 9 10 11 ] which results in accumulation of fluorescent porphyrins in the plasma, and their subsequent deposition in teeth and excretion in urine resulting in their pink fluorescence under Wood's lamp which is characteristic of CEP. [ 12 ] A childhood onset photosensitivity, recurrent blistering, erosions, scarring, and subsequent mutilation of the photo-exposed sites along with hypertrichosis of the face and extremities and the fluorescence described above characterize it.…”