Photo(chemo)therapy and general management of erythropoietic protoporphyria

Erythropoietic protoporphyria is an autosomal dominant or autosomal recessive photodermatosis characterized by a deficiency of the enzyme ferrochelatase. The diagnosis is based on the very typical complaints of burning and pain on sun exposure and on increased protoporphyrin concentration in the red blood cells, the plasma and the feces. Different treatment modalities have been proposed. The treatment of choice has always been beta-carotene. For severe cases, PUVA treatment can be given three times a week until a total UVA dose of 120-200 J/cm2. In younger children, UVB phototherapy can be used if beta-carotene gives unsatisfactory therapeutic results. The irradiations are given four times a week until a total dose of 1-1.5 J/cm2 is reached.