Erythropoietic Protoporphyria. A Major Skin Involvement

Erythropoietic Protoporphyria (EPP) is a relatively rare disease [1], probably less so than the rare acute intermittent porphyria. Virtually all patients with EPP are symptomatic as young children. For example, a 10-year old boy was referred to me, a porphyria specialist, because of cutaneous photosensitivity since infancy. With sun exposure, his skin quickly developed tingling and subsequently swelling, petechiae, burning, stinging, erythema and pain, and rarely potential lethal liver dysfunction. In general, affected patients, including this boy, avoid being outside or with the sun. When outside, they often wear total-body clothes to avoid body exposure to sun and/or heat. Ultimately, they lead, without treatment, to scarring and resorption of the nose, auricles and fingers. The few physicians who specialize in the porphyrias do encounter them relatively frequently. I have seen many youngsters and adults with this syndrome, and have advised and treated them regarding probably preventive EPP therapy.