Congenital erythropoietic porphyria (cep)‎ : a report of two female siblings

Abstract EN

Congenital erythropoietic porphyria (CEP) is a rare inherited condition.

Two sisters with this disease, 12 and 4 years of age, presented with discoloration of the teeth and hyperpigmentation of the sun exposed areas of the skin.

Hypertrichosis, vesicular rash, mutilation of the finger tips, and splenomegaly were also observed.

Both passed red urine which was positive for uroporphyrin I under UV light.

The diagnosis was confirmed with high levels of uroporphyrins and coproporphyrins in a 24 hour specimen.

Interestingly, there is no known family history of this disorder.

These are the first cases of CEP recorded in Sudan.

The symptoms improved significantly with avoidance of exposure to sunlight.