Porphyria congenital erythropoietic

Congenital erythropoietic porphyria

Synonym:

Gunther's disease
Erythropoietic uroporphyria
Congenital porphyria

Congenital erythropoietic porphyria is an autosomal recessive disorder caused by a deficiency of uroporphyrinogen III cosynthetase, which results in increased uroporphyrin.
There is extreme photosensitivity, associated with pain, in early infancy.
Erythema, blisters, ulcers and, eventually, scars are noted in exposed areas. There is hypertrichosis, with lanugo hairs developing on the face and limbs. Exposed areas severely involved can develop a scarring alopecia. The teeth can be brown.
Urine fluoresces pink.
Splenomegaly and anemia are common.

Treatment:

  • No treatment is very effective.
  • As patients react to both ultraviolet and visible light, sun avoidance is helpful.
  • Beta-carotene orally may provide some benefit.

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