ABSTRACT

Erythropoietic protoporphyria (EPP) is an inherited disorder of haem biosynthesis, in which reduced activity of the enzyme ferrochelatase leading accumulation of protoporphyrins in various tissues. Protoporphyrins are photoactivated by ultra-violet light causing tissue damage by release of free oxygen radicals, which manifests as photosensitivity. EPP usually presents in early childhood or infancy with painful burning and pruritus within minutes of light exposure. Onset of symptoms in adults is rare and often associated with acquired somatic mutation of the FECH gene secondary to haematological malignancy. Herein we describe a 20-year-old male patient with EPP, who had a 15-year-history of recurrent swelling, blistering, itching, and burning on his nose, auricle and dorsa of hands after exposure to sunlight, which commenced in early spring of every year.