Variable effects of beta-carotene therapy in a child with erythropoietic protoporphyria

European Journal of Pediatrics
Ramin Alemzadeh, Tammy Feehan

Abstract

Erythropoietic protoporphyria (EPP) is an inborn error of heme biosynthesis with high levels of protoporphyrin in red cells and is characterized by mild to moderate photosensitivity. High-dose beta-carotene therapy has been reported to afford photoprotection in patients with EPP. We report the case of a 5-year-old Caucasian female with EPP who presented with a long-standing 3-year history of recurrent facial blisters and erythematous swelling and lesions of other sun-exposed areas of the skin. She was treated with a topical sunblocker (PreSun Ultra-SP45) but continued to show moderate to severe photosensitivity despite 3 months (March to May) of vigorous photoprotection. She was then started on increasing doses of beta-carotene (90-180 mg/day) over a period of 3 months (June to September) which resulted in a marked improvement of both facial and forearm lesions, but only modest improvement in her hand lesions. High-dose beta-carotene appears to provide photoprotection in erythropoietic protoporphyria, resulting in improved but highly variable tolerance to sunlight.

Citations

Jun 24, 2008·Nihon eiseigaku zasshi. Japanese journal of hygiene·Masahito AminakaKatsumi Yoshida
Feb 14, 2014·TheScientificWorldJournal·M del C MartinezA Batlle
Aug 22, 2007·European Journal of Pediatrics·Anne L Y LecluseSuzanne G M A Pasmans
Oct 6, 2016·Journal of Zhejiang University. Science. B·Zhang-Biao LongBing Han
Jul 26, 2006·Annals of Nutrition & Metabolism·D RomagueraJ A Tur
May 20, 2020·International Journal of Molecular Sciences·Elena Di Pierro, Francesca Granata

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