| Autor: |
Khan, Javeriah, Hashmi, Muhammad Usman, Noor, Nabeeha, Khan, Ahmad Jamal, Shrateh, Oadi N., Tahir, Muhammad Junaid |
| Předmět: |
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| Zdroj: |
Journal of Medical Case Reports; 11/14/2023, Vol. 17 Issue 1, p1-6, 6p |
| Abstrakt: |
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] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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