Congenital erythropoietic porphyria presenting with recurrent epistaxis: a case report

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. C...

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Bibliographic Details
Published in:Journal of medical case reports 2023-11, Vol.17 (1), p.1-472, Article 472
Main Authors: Khan, Javeriah, Hashmi, Muhammad Usman, Noor, Nabeeha, Khan, Ahmad Jamal, Shrateh, Oadi N, Tahir, Muhammad Junaid
Format: Article
Language:English
Subjects:
Abdomen
Anemia
BCG
BCG vaccines
Blood platelets
Case report
Case reports
Congenital diseases
Deformities
Enzyme mutation
Enzymes
Epistaxis
Gunther disease
Heme
Hemoglobin synthesis
Hospitals
Laboratories
Nalbuphine
Nosebleed
Physiological aspects
Porphyria
Skin
Sun
Surgery
Thrombocytopenia
Urine
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Summary: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. Keywords: Gunther disease, Epistaxis, Thrombocytopenia, Enzyme mutation, Case report
ISSN:1752-1947
1752-1947
DOI:10.1186/s13256-023-04204-5