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Congenital erythropoietic porphyria presenting with recurrent epistaxis: a case report.
- Source :
-
Journal of Medical Case Reports . 11/14/2023, Vol. 17 Issue 1, p1-6. 6p. - Publication Year :
- 2023
-
Abstract
- Background: Congenital erythropoietic porphyria (CEP), also known as pink tooth or Gunther disease, is a rare hereditary disorder caused by an enzyme mutation in the heme biosynthesis pathway, which leads to the accumulation of immature and non-physiological protoporphyrin rings in various tissues. CEP is characterized by sun-exposed bullous skin lesions, hemolytic anemia, red/brown urine, and teeth staining. Case presentation: We present a unique case of a 10-year-old Asian boy with CEP who presented with recurrent epistaxis, an unusual presentation for this condition. Based on clinical presentation and laboratory findings, including elevated urine uroporphyrin and coproporphyrin I and III levels, microcytic anemia, a higher red cell distribution width (RDW), and a lower platelet count, a thorough assessment and detailed workup resulted in a diagnosis of CEP. The patient underwent a successful splenectomy and recovered without any complications. Conclusion: This case report aims to raise awareness among healthcare professionals about the uncommon and atypical presentation of CEP and its management options. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 17521947
- Volume :
- 17
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- Journal of Medical Case Reports
- Publication Type :
- Academic Journal
- Accession number :
- 173584763
- Full Text :
- https://doi.org/10.1186/s13256-023-04204-5