Clinical Dermatology Review (Jan 2017)
Congenital erythropoietic porphyria: An unusual presentation
Abstract
Congenital erythropoietic porphyria is a rare autosomal recessive disorder of heme biosynthesis that results from the deficient activity of uroporphyrinogen III synthase. Herein, we report a case of an 8-year-old boy who presented with red-colored urine, erythrodontia, hypertrichosis, and skin fragility with minimal scarring over dorsa of the hands and tip of the nose, but without the classical history of photosensitivity, blistering, or mutilation of photo-exposed parts.
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