Erythropoietic Protoporphyria.—Presented by Leonard C. Harber, MD.
The patient, a 36-year-old mechanic, had marked photosensitivity for at least 32 years. He related that, following sun exposure, a "burning" sensation occurred on the light-exposed sites of his face, neck, ears, and dorsa of the hands. This was followed within minutes by redness and swelling. Involution of these edematous plaques occured 24 to 48 hours after onset. No protection was afforded by window glass.The patient's family history revealed that his two children, a 10-year-old daughter and an 8-year-old son, had similar signs and symptoms. All other relatives, including parents and grandparents, were unaffected. No member of his wife's family had any disease related to sun exposure.The findings of general physical examination were within normal limits. Results of laboratory tests, including a complete blood cell count, urinalysis, and routine hepatic function tests were normal. The sole abnormal finding was
Atkinson SC. NEW YORK DERMATOLOGICAL SOCIETY. Arch Dermatol. 1972;106(3):414. doi:10.1001/archderm.1972.01620120092027