Porphyria erythropoetica congenita E80.0

Very rare, autosomal recessive form of erythropoietic porphyria, which appears clinically as severe photoxic dermatitis with excessive sensitivity to light.

Autosomal recessive inheritance of mutations of the uro-synthase gene (gene locus: 10q25.3-q26.3) that lead to reduced activity of the enzyme uroporphyrinogen-III-synthase in the erythropoietic system of the bone marrow. This results in an accumulation of uroporphyrin-I and coproporphyrin I in erythrocytes, which leads to haemolysis.

Short time after sun exposure:

• itching, burning, oedematous erythema, blisters, possible hemorrhagic ulceration. Formation of varioliform scars, severe mutilation of the face and hands, hyper- and depigmentation, scarred alopecia, sclerosis.
• Hypertrichosis; often with a predilection for light-exposed areas of the face, in women in the temporal and lateral cheek area, in men by bushy and widened eyebrows. Hair on the trunk and extremities may also be dense.
• Keratoconjunctivitis, ectropion of the eyelids, symblepharon.
• Erythrodontia: red fluorescence of the teeth in Wood's light.
• Chronic hemolytic anemia, splenomegaly.
• Red urine.

• Urine: red stained, red fluorescence, uroporphyrin I is strongly elevated, coproporphyrin I is less strongly elevated
• Faeces: Coproporphyrin I is more strongly elevated than uroporphyrin I. Erythrocytes: red fluorescence, uroporphyrin I is elevated.
• Blood count: Haemolytic anaemia.

Notice! Carry out genetic counselling!

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