Erythropoietic protoporphyria. Presented by John M. Knox, MD.
This 14-year-old white boy presented with a three-year history of a burning sensation on the dorsa of his hands following sun exposure. Slight swelling was noted on one occasion but erythema and blistering were denied. He had been treated with antimalarial drugs in the past with some symptomatic improvement. General health has been good. Family and past history are unremarkable. There is no known light hypersensitivity in his relatives.The skin overlying the dorsa of the hands, particularly the proximal metacarpophalangeal areas, appears thickened, verrucous, and aged (Fig 1).Biopsy from the dorsum of the wrist was reported as compatible with erythropoietic protoporphyria (Fig 2).
Negative urinary fluorescence at 405 nanometers (nm). Erythrocytes in saline suspension failed to fluoresce under ultraviolet light but a quantitative test revealed an erythrocytic protoporphyrin level of 286μg/100 ml (normal, up to 55).Symptomatic improvement has
HOUSTON DERMATOLOGICAL SOCIETY. Arch Dermatol. 1969;100(3):374-383. doi:10.1001/archderm.1969.01610270116024