title: Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases.
abstract: BACKGROUND
  Congenital erythropoietic porphyria (CEP) is an autosomal recessive cutaneous porphyria caused by decreased activity of uroporphyrinogen III synthase (UROS). Its predominant characteristics include bullous cutaneous photosensitivity to visible light from early infancy, progressive photomutilation and chronic haemolytic anaemia. Due to its rarity and genetic heterogeneity, clinical phenotypes are unclear and its impact on health-related quality of life (HRQoL) has not been previously assessed.
  
  
  OBJECTIVE
  To define comprehensively CEP phenotypes and assess their impact on HRQoL, and to correlate these factors with laboratory parameters.
  
  
  METHODS
  A single observer assessed patients with CEP from four European countries.
  
  
  RESULTS
  Twenty-seven unrelated patients with CEP, aged between 7.6 and 65 years, participated in the study. The patients came from the U.K. (17), France (4), Switzerland (4) and Germany (2). Additional data were obtained for two deceased patients. Newly characterized features of CEP include acute-onset cutaneous and noncutaneous symptoms immediately following sunlight exposure, and pink erythematous facial papules. There was a lack of consistent genotype-phenotype correlation in CEP. The main poor prognostic factors in CEP are the early age of disease onset and haematological complications.
  
  
  CONCLUSIONS
  CEP is a multisystem disease; cutaneous, ocular, oral and skeletal manifestations also contribute to disease severity and impact on HRQoL, in addition to the haematological complications. The rarity of the disease can lead to delayed diagnosis. The lack of consistent genotype-phenotype correlation in CEP suggests a contribution to phenotype from other factors, such as environment, patients' photoprotective behaviour and genes other than UROS. There is currently an unmet need for multidisciplinary management of patients with CEP.
authors: Department of Dermatology and Wound Healing, Cardiff University, Cardiff, UK. ruwanik@hotmail.com
authors: R P
authors: RP
authors: Katugampola
authors: M N
authors: MN
authors: Badminton
authors: A Y
authors: AY
authors: Finlay
authors: S
authors: S
authors: Whatley
authors: J
authors: J
authors: Woolf
authors: N
authors: N
authors: Mason
authors: J C
authors: JC
authors: Deybach
authors: H
authors: H
authors: Puy
authors: C
authors: C
authors: Ged
authors: H
authors: H
authors: de Verneuil
authors: S
authors: S
authors: Hanneken
authors: E
authors: E
authors: Minder
authors: X
authors: X
authors: Schneider-Yin
authors: A V
authors: AV
authors: Anstey
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D015331:Cohort Studies; D005060:Europe; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D017092:Porphyria, Erythropoietic / Q000235:genetics* / Q000503:physiopathology; D011788:Quality of Life; D014576:Uroporphyrinogen III Synthetase / Q000235:genetics*; D055815:Young Adult
chemical_list: D014576:Uroporphyrinogen III Synthetase