Congenital erythropoietic porphyria: An unusual presentation
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 fragi...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2017-01-01
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| Series: | Clinical Dermatology Review |
| Subjects: | |
| Online Access: | http://www.cdriadvlkn.org/article.asp?issn=2542-551X;year=2017;volume=1;issue=2;spage=69;epage=72;aulast=Garg |