| Autor: |
Javeriah Khan, Muhammad Usman Hashmi, Nabeeha Noor, Ahmad Jamal Khan, Oadi N. Shrateh, Muhammad Junaid Tahir |
| Jazyk: |
angličtina |
| Rok vydání: |
2023 |
| Předmět: |
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| Zdroj: |
Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-6 (2023) |
| Druh dokumentu: |
article |
| ISSN: |
1752-1947 |
| DOI: |
10.1186/s13256-023-04204-5 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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