title: Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.
abstract: BACKGROUND
  Epidermolysis bullosa (EB) is a rare and so far incurable genetic disease, affecting mainly the skin and mucosal membranes, manifesting with blisters triggered by minor mechanical trauma. Since only few epidemiological data on EB are available, we established a Registry for EB and implemented molecular diagnostic methods.
  
  
  OBJECTIVE
  We present epidemiologic data from the EB Registry and genotype-phenotype correlations.
  
  
  METHODS
  In 2006, a registry of patients with EB was initiated in the Department of Dermatology of the University of Medicine, as well as molecular diagnostic tools. The patients were diagnosed on clinical bases, and whenever possible, immunofluorescence mapping and molecular analysis were performed.
  
  
  RESULTS
  89 EB patients were enrolled in the study from 2006 to 2012: 58 patients with dystrophic EB (DEB), 20 with EB simplex, one patient was diagnosed with Kindler syndrome; in 10 patients, the type of EB could not be determined.
  
  
  CONCLUSIONS
  We have estimated, the total number of EB patients in Romania and we have estimated the incidence and the prevalence of EB. We have also managed to approximate the distribution of EB types in Romania. Moreover, we performed a phenotypic and genotypic characterization in some of the patients included in the EB register.
authors.affiliation: Department of Dermatology, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
authors.forename: S
authors.initials: S
authors.lastname: Dănescu
authors.forename: C
authors.initials: C
authors.lastname: Has
authors.forename: S
authors.initials: S
authors.lastname: Senila
authors.forename: L
authors.initials: L
authors.lastname: Ungureanu
authors.forename: R
authors.initials: R
authors.lastname: Cosgarea
mesh_terms: D000293:Adolescent; D000328:Adult; D001768:Blister / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D024143:Collagen Type VII / Q000235:genetics; D004820:Epidermolysis Bullosa / Q000453:epidemiology; D016108:Epidermolysis Bullosa Dystrophica / Q000453:epidemiology* / Q000235:genetics; D016110:Epidermolysis Bullosa Simplex / Q000453:epidemiology* / Q000235:genetics; D005091:Exons; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D010510:Periodontal Diseases / Q000453:epidemiology; D010641:Phenotype; D010787:Photosensitivity Disorders / Q000453:epidemiology; D015995:Prevalence; D012042:Registries; D012383:Romania / Q000453:epidemiology; D055815:Young Adult
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII