Abstract
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.
Publisher
Springer Science and Business Media LLC
Reference9 articles.
1. Bhusal M, Bhattarai S, Shah M, Khadka A. Congenital erythropoietic porphyria: a case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients. JAAD Case Reports. 2021;1(10):102–6.
2. Desjardins MP, Naccache L, Hébert A, Auger I, Teira P, Pelland-Marcotte MC. Very early diagnosis and management of congenital erythropoietic porphyria. Clin Pediatr. 2022;11:00099228221128661.
3. Di Pierro E, Granata F, De Canio M, Rossi M, Ricci A, Marcacci M, De Luca G, Sarno L, Barbieri L, Ventura P, Graziadei G. Recognized and emerging features of erythropoietic and X-linked protoporphyria. Diagnostics. 2022;12(1):151.
4. Katugampola RP, Badminton MN, Finlay AY, Whatley S, Woolf J, Mason N, Deybach JC, Puy H, Ged C, De Verneuil H, Hanneken S. Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. Br J Dermatol. 2012;167(4):901–13.
5. Erwin AL, Desnick RJ. Congenital erythropoietic porphyria: recent advances. Mol Genet Metab. 2019;128(3):288–97.