HistoryThis section has been translated automatically.
DefinitionThis section has been translated automatically.
Very rare, autosomal recessive form of erythropoietic porphyria, which appears clinically as severe photoxic dermatitis with excessive sensitivity to light.
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EtiopathogenesisThis section has been translated automatically.
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.
ManifestationThis section has been translated automatically.
Clinical featuresThis section has been translated automatically.
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.
LaboratoryThis section has been translated automatically.
- 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.
HistologyThis section has been translated automatically.
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General therapyThis section has been translated automatically.
External therapyThis section has been translated automatically.
Internal therapyThis section has been translated automatically.
Notice! Carry out genetic counselling!
Progression/forecastThis section has been translated automatically.
LiteratureThis section has been translated automatically.
- Aplin C et al (2001) Late-onset erythropoietic porphyria caused by a chromosome 18q deletion in erythroid cells. J Invest Dermatol 117: 1647-1649
- Arunachalam M et al (2013) Scleroderma-like hands in a 16-year-old boy. Congenital erythropoetic porphyria (CEP). JAMA Dermatol 149:969-970
- Dawe SA et al (2002) Congenital erythropoietic porphyria: dilemmas in present day management. Clin Exp Dermatol 27: 680-683
- Desnick R et al (2002) Congenital erythropoietic porphyria: advances in pathogenesis and treatment. Br J Haematol 117: 779-795
- Fischer H (1915) On the fecal porphyrin. Z Physiol Chem 96: 148-182
- Günther H (1911) The hematoporphyria. German Arch Klin Med 105: 89-146
- Harada FA et al (2001) Treatment of severe congenital erythropoietic porphyria by bone marrow transplantation. J Am Acad Dermatol 45: 279-282
- Kontos AP et al (2003) Congenital erythropoietic porphyria associated with myelodysplasia presenting in a 72-year-old man: report of a case and review of the literature. Br J Dermatol 148: 160-164
- Murphy GM (1999) The cutaneous porphyrias: a review. The British Photodermatology Group. Br J Dermatol 140: 573-581
- Schultz JH (1874) A case of pemphigus leprosus, complicated by visceral leprosy. Dissertation, Greifswald
Incoming links (9)Congenital erythropoetic porphyria; Dental diseases, skin changes; Gunther, m.; Günther's disease; Methoxsalen; Porphyria congenita gunther; Porphyria congenital erythropoietic; Porphyria cutanea tarda; Xeroderma pigmentosum;
Outgoing links (13)Depigmentation; Ectropium; Epidermolysis bullosa hereditaria (overview); Erythrodontics; Hydroa vacciniforme; Hypertrichoses; Light stabilizers; Porphyria erythropoietic; Pruritus; Symblepharon; ... Show all
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