Congenital Erythropoietic Porphyria

Summary

  1. CEP is the rarest form of porphyria, and is known to cause skin blistering and scarring, sunlight sensitivity, and hand and foot abnormalities.

  2. Symptoms often start in infancy, and can be diagnosed by red-coloured urine.

  3. Limiting sunlight exposure is essential for those affected by CEP.

CEP, otherwise known as Gunther’s disease, is one of the most rare types of porphyria. It is usually diagnosed in infancy as it causes very severe manifestations. Photosensitivity and blistering is extreme, leading to scarring and deformities of exposed sites.