Erythropoietic Protoporphyria Presenting as Hydroa Aestivale

Abstract

Three patients with erythropoietic protoporphyria, the first to be reported from this country, have been studied. In each, as in the cases reported from Europe, marked elevations of the free erythrocyte and fecal protoporphyrin levels were found. However, the photocutaneous eruption, observed in all three patients, is considered to result from the high level of protoporphyrin found in the plasma. The cutaneous features were those of hydroa aestivale, and it is proposed that hydroa aestivale is a form of erythropoietic protoporphyria.