A Girl with A Glowing Tooth : A Case of Congenital Erythropoietic Porphyria

Authors

  • Chatchawan Srisawat Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Kleebsabai Sanpakit Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Wanee Wisutsareevong Department of Pediatrics, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Vichit Leenutaphong Department of Dermatology, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Chairat Permpikul Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University
  • Neelobol Neungton Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University

Keywords:

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Abstract

Congenital erythropoietic porphyria is a rare type of porphyria caused by inherited defects of uroporphyrinogen III synthase, an enzyme in the heme biosynthetic pathway. The resultant accumulation of porphyrins causes damage to the skin and erythrocytes, leading to cutaneous photosensitivity and hemolytic anemia. Furthermore, excess porphyrins are also deposited in tissues, bone, and teeth, resulting in a reddish-brown discoloration of the teeth (erythrodontia) which fluoresces under long-wavelength ultraviolet light. In this report, a case of a 9-month old infant girl with recurrent skin eruptions, anemia with hepatosplenomegaly, and erythrodontia is presented. The diagnosis of congenital erythropoietic porphyria was made based on the clinical manifestations and biochemical investigations. The patient was treated successfully with allogenic bone marrow transplantation and is still in remission after almost 3 years posttransplantation.

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Published

01-01-2004

How to Cite

Srisawat, C. ., Sanpakit, K. ., Wisutsareevong, W. ., Leenutaphong, V. ., Permpikul, C. ., & Neungton, N. . (2004). A Girl with A Glowing Tooth : A Case of Congenital Erythropoietic Porphyria. Siriraj Medical Journal, 56(1), 26–32. Retrieved from https://he02.tci-thaijo.org/index.php/sirirajmedj/article/view/245484

Issue

Vol. 56 No. 1 (2004): January

Section

Interdepartment Conference

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