An 11-year-old white boy had symptomatic erythropoietic protoporphyria (EPP) and Klinefelter's syndrome. To our knowledge, this is the first report of such an association. The patient's relatives were screened for EPP with use of fluorocyte counts. Erythropoietic protoporphyric patients with active disease respond poorly to antihistaminics, antimalarials, and topically applied sunscreens. Recently, however, beta-carotene has been shown to be effective in suppressing the photosensitivity of these patients. Consequently, our patient was instructed to drink three to four large glasses of carrot juice or mixed vegetable juice daily. He became carotenemic within three weeks and his sunlight tolerance increased from 10 to 30 minutes to an almost indefinite exposure time.
Chapel TA, Stewart RH, Webster SB. Erythropoietic Protoporphyria: Report of a Case Successfully Treated With Carotene. Arch Dermatol. 1972;105(4):572–573. doi:10.1001/archderm.1972.01620070044015
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