CONGENITAL ERYTHROPOIETIC PORPHYRIA or GUNTHER'S DISEASE

By Gary M. White, MD


Congenital erythropoietic porphyria (CEP), also known as Gunther's disease, is a rare, inherited metabolic abnormality of the heme biosynthesis pathway.

Clinical

This disease presents in the first few months of life with erythema, swelling, and blistering of the sun-exposed skin.

Treatment

For patients with mild disease, only symptomatic therapy is needed. Obviously, an expert in this disease should be consulted. Splenectomy may be offered for patients with hypersplenism. Bone marrow transplant is currently the best hope for virtual cure of the disease.

References

Congenital erythropoietic porphyria: Insight into the molecular basis of the disease. Indian J Paediatr Dermatol 2016;17:1-6

Example Case

A 1-month-old infant is noted to have pink urine. When his teeth begin to erupt, they are a dark reddish brown. As the child becomes more active, his parents noticed that cuts and bruises on his face and limbs required several weeks to heal. At the age of 15 months, during a visit to Hawaii, he is exposed to the sun wherein the exposed areas erupt into large vesicles. These lesions healed poorly, became infected and formed large scars.

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