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  • Title: Congenital erythropoietic porphyria presenting with recurrent epistaxis: a case report.
    Author: Khan J, Hashmi MU, Noor N, Khan AJ, Shrateh ON, Tahir MJ.
    Journal: J Med Case Rep; 2023 Nov 14; 17(1):472. PubMed ID: 37957719.
    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.
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