Porphyria erythropoetica congenitaE80.0
Synonym(s)
CEP; congenital erythropoetic porphyria (CEP); Congenital erythropoietic porphyria; Gunther M.; Günther's disease; MIM 263700; Porphyria congenita Gunther; Porphyria congenital erythropoietic
HistoryThis section has been translated automatically.
Schultz, 1874; Günther, 1911
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.
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.
Usually immediately after birth with sun exposure in the summer of the 1st year of life; rarely in adults.
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.
Subepidermal blisters, scarring, hyalinization.
Differential diagnosisThis section has been translated automatically.
General therapyThis section has been translated automatically.
Causal therapy not known. Some patients were successfully treated with bone marrow transplants.
External therapyThis section has been translated automatically.
Textile and chemical/physical light protection, see also light protection agents. Strict avoidance of sunlight, reversal of the day/night rhythm, prevention of secondary infections.
Internal therapyThis section has been translated automatically.
For severe anemia, treatment with blood transfusions. In case of hypersplenism possibly splenectomy. Try beta-carotene (100-200 mg/day). No high success rate!
Notice! Carry out genetic counselling!
Progression/forecastThis section has been translated automatically.
Mutilation, loss of fingernails, loss of end phalanges, nasal and ear cartilage, death often before the age of 50.
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