Porphyria hepatoerythropoeticaE80.2

Authors:Prof. Dr. med. Peter Altmeyer, Prof. Dr. med. Martina Bacharach-Buhles

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Last updated on: 29.10.2020

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HistoryThis section has been translated automatically.

Günther, 1967; Pinol Aguade, 1969

DefinitionThis section has been translated automatically.

Homozygous form of porphyria cutanea tarda with obligatory skin symptoms.

EtiopathogenesisThis section has been translated automatically.

Autosomal recessive inherited defect of uroporphyrinogen-1-decarboxylase leading to strongly reduced enzyme activity (5-10%).

ManifestationThis section has been translated automatically.

Childhood.

Clinical featuresThis section has been translated automatically.

Beginning of the first skin symptoms in childhood with phototoxic dermatitis within minutes to hours after sun exposure. S.a. Porphyria cutanea tarda.

LaboratoryThis section has been translated automatically.

Elevated concentrations of free protoporphyrin in erythrocytes, plasma and stool. Prevalence of gallstones is increased!

HistologyThis section has been translated automatically.

Like porphyria cutanea tarda.

General therapyThis section has been translated automatically.

Symptomatic. Textile and chemical light protection (see also light protection agents). Close internal control (danger of protoporphyrin-induced liver failure).

Internal therapyThis section has been translated automatically.

Continuous administration of carotenoids (e.g. carotaben 50-150 mg/day).

LiteratureThis section has been translated automatically.

  1. Elder et al (1981) Hepatoerythropoietic porphyria: a new uroporphyrinogen decarboxylase defect or homozygous porphyria cutanea tarda. Lancet 1: 916-919
  2. Ged C et al (2002) Description of a new mutation in hepatoerythropoietic porphyria and prenatal exclusion of a homozygous fetus. Arch Dermatol 138: 957-960
  3. Gunther WW (1967) The porphyrias and erythropoietic protoporphyria: an unusual case. Australas J Dermatol 9: 23-30
  4. Horina JH et al (2000) Epoetin for severe anemia in hepatoerythropoietic porphyria. N Engl J Med 342: 1294-1295
  5. Pinol J et al (1975) Porphyria hepato-erythrocytaire: une nouvelle forme de porphyrie. Ann Dermatol Venereol 102: 129-136
  6. Pinol Aguade J, Castells A et al (1969) A case of biochemically unclassifiable hepatic porphyria. Br J Dermatol 81: 270-275

Authors

Last updated on: 29.10.2020

Authors: Prof. Dr. med. Peter AltmeyerProf. Dr. med. Martina Bacharach-Buhles