title: [Congenital erythropoietic porphyria : An update].
abstract: BACKGROUND
  Congenital erythropoetic porphria is a very rare type of autosomal recessive nonacute porphyria. Homozygous or compound heterozygous mutations in the uroporphyrinogen III consynthase gene cause a marked enzymatic deficiency of uroporphyrinogen III consynthase, the fourth enzyme along the heme biosynthetic pathway.
  
  
  METHODS
  Clinically, affected patients are characterized by a moderate to severe photosensitivity. Starting early in infancy, they develop blisters, erosions, and exulcerations in sun-exposed areas of the body, often resulting in scar formation and mutilation. Besides the cutaneous changes, hemolytic anemia, transfusion-dependent pancytopenia, hepatosplenomegaly and liver cirrhosis can occur. Due to increased susceptibility for infections and because of the hematological and hepatic complications, affected individuals have a decreased life expectancy, rarely exceeding 40 years of age.
  
  
  METHODS
  Currently, no causal treatment is available for the disorder. Therefore, the most important therapeutic modality is strict avoidance of sunlight, preferably by inversion of the day-night rhythm, or at least consequent photoprotection with adequate clothing. In severe cases, bone marrow or stem cell transplantation should be considered.
authors.affiliation: Hautklinik und Europäisches Porphyriezentrum, Universitätsklinikum der Heinrich Heine Universität Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.
authors.forename: C
authors.initials: C
authors.lastname: Wenner
authors.affiliation: Hautklinik und Europäisches Porphyriezentrum, Universitätsklinikum der Heinrich Heine Universität Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland.
authors.forename: N J
authors.initials: NJ
authors.lastname: Neumann
authors.affiliation: Hautklinik und Europäisches Porphyriezentrum, Universitätsklinikum der Heinrich Heine Universität Düsseldorf, Moorenstr. 5, 40225, Düsseldorf, Deutschland. jorge.frank@med.uni-duesseldorf.de.
authors.forename: J
authors.initials: J
authors.lastname: Frank
mesh_terms: D019317:Evidence-Based Medicine; D006801:Humans; D017092:Porphyria, Erythropoietic / Q000175:diagnosis* / Q000453:epidemiology / Q000628:therapy*; D015995:Prevalence; D011835:Radiation Protection / Q000379:methods*; D012307:Risk Factors; D013472:Sunlight; D013473:Sunscreening Agents / Q000627:therapeutic use*; D016896:Treatment Outcome
chemical_list: D013473:Sunscreening Agents
keywords: Gunther disease; Heme biosynthesis; Porphyrias; Sunscreening agents; Uroporphyrinogen III synthetase