Late-onset hepatoerythropoietic porphyria presenting with facial deformities and erythrodontia

Authors

  • Suchada Triviboonvanich Department of Dermatology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand
  • Sarawut Junnu Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
  • Chatchawan Srisawat Department of Biochemistry, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
  • Narumol Silpa-archa Department of Dermatology, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok, Thailand

Keywords:

Hepatoerythropoietic porphyria, facial deformities, erythrodontia, late-onset

Abstract

Hepatoerythropoietic porphyria (HEP) is a nonacute porphyria inherited as an autosomal recessive disorder due to either a homozygous or compound heterozygous deficiency of uroporphyrinogen decarboxylase (UROD). The incidence of HEP is extremely rare, with fewer than 40 cases reported to date. The typical onset is in early childhood, and it usually presents with severe photosensitivity, mutilating scarring, and hypertrichosis. We report a 48-year-old man with teenage onset (15 years of age) of HEP.

References

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Published

2019-06-25

How to Cite

Triviboonvanich, S., Junnu, S., Srisawat, C., & Silpa-archa, N. (2019). Late-onset hepatoerythropoietic porphyria presenting with facial deformities and erythrodontia. Thai Journal of Dermatology, 35(2), 73–80. Retrieved from https://he02.tci-thaijo.org/index.php/TJD/article/view/197522

Issue

Vol. 35 No. 2 (2019): April - June

Section

Case Report

License

เนื้อหาและข้อมูลในบทความที่ลงตีพิมพ์ในวารสารโรคผิวหนัง ถือเป็นข้อคิดเห็นและความรับผิดชอบของผู้เขียนบทความโดยตรงซึ่งกองบรรณาธิการวารสาร ไม่จำเป็นต้องเห็นด้วย หรือร่วมรับผิดชอบใดๆ

บทความ ข้อมูล เนื้อหา รูปภาพ ฯลฯ ที่ได้รับการตีพิมพ์ในวารสารโรคผิวหนัง ถือเป็นลิขสิทธิ์ของวารสารฯ หากบุคคลหรือหน่วยงานใดต้องการนำทั้งหมดหรือส่วนหนึ่งส่วนใดไปเผยแพร่ต่อหรือเพื่อกระทำการใดๆ จะต้องได้รับอนุญาตเป็นลายลักอักษรจากบรรณาธิการวารสารโรคผิวหนังก่อนเท่านั้น