Congenital erythropoietic porphyria: An unusual presentation
Year: 2017
Type: article
Study design: Case Report
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.
Source: Clinical Dermatology Review
DOI: 10.4103/cdr.cdr_3_17
Authors: PriyankaBorde Bisht, Shilpa Garg, Sukriti Baveja, Suvash Sahu
Institution: Sir Ganga Ram Hospital
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W2739722686