ERYTHROPOIETIC PROTOPORPHYRIA

Erythropoietic protoporphyria is a rare inherited disease due to defic iency of the enzyme ferrochelatase. Acute subjective skin manifestatio ns after exposure to sunlight usually start in early infancy but are o ften misinterpreted. A case in a ten-year-old boy with a history of ph otosensitivity since two years of age is reported. Several family memb ers were affected. High concentrations of protoporphyrin were found in erythrocytes. All other investigations were normal. Patients with ery thropoietic protoporphyria often present with chronic skin lesions tha t are less suggestive of the diagnosis than acute photosensitivity. Pr otoporphyrins should be assayed in such situations, especially if seve ral family members are affected.