title: Epidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa.
abstract: OBJECTIVE
  To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia.
  
  
  METHODS
  Observational study (cross-sectional and longitudinal).
  
  
  METHODS
  Australian private dermatology practice, inpatient ward, and outpatient clinic.
  
  
  METHODS
  Systematic case finding of patients with EB simplex, junctional EB (JEB), and dystrophic EB and data collection were performed throughout Australia and New Zealand from January 1, 2006, through December 31, 2008. Patients were consecutively enrolled in the study after clinical assessment and laboratory diagnosis. Medical records were retrospectively examined, and physicians involved in EB care were contacted to obtain patient history. A Herlitz JEB case series was prepared from registry data.
  
  
  METHODS
  Demographics and prognosis of patients with Herlitz JEB.
  
  
  RESULTS
  A total of 259 patients were enrolled in the study: 139 with EBS, 91 with dystrophic EB, 28 with JEB, and 1 with Kindler syndrome. Most enrollees were Australian citizens (n = 243), with an Australian prevalence rate of 10.3 cases per million. The age range in the registry was birth to 99 years, with a mean and median age of 24.1 and 18.0 years, respectively. Ages were similar in patients with EBS and dominant dystrophic EB but were markedly lower in patients with JEB. Patients with Herlitz JEB (n = 10) had the highest morbidity and mortality rates, with a mean age at death of 6.8 months. Sepsis, failure to thrive, and tracheolaryngeal complications were the leading causes of death.
  
  
  CONCLUSIONS
  The Australasian EB registry is the first registry in Australia and New Zealand to provide original data on age, sex, ethnicity, and geographical and disease subtype distribution. The Australasian Herlitz JEB cohort witnessed a high infant mortality rate and poor prognosis overall.
authors.affiliation: Department of Dermatology, University of New South Wales, St George Hospital, Kogarah NSW 2217, Sydney, Australia.
authors.forename: Yong Chern
authors.initials: YC
authors.lastname: Kho
authors.forename: Lesley M
authors.initials: LM
authors.lastname: Rhodes
authors.forename: Susan J
authors.initials: SJ
authors.lastname: Robertson
authors.forename: John
authors.initials: J
authors.lastname: Su
authors.forename: George
authors.initials: G
authors.lastname: Varigos
authors.forename: Ian
authors.initials: I
authors.lastname: Robertson
authors.forename: Peter
authors.initials: P
authors.lastname: Hogan
authors.forename: David
authors.initials: D
authors.lastname: Orchard
authors.forename: Dedee F
authors.initials: DF
authors.lastname: Murrell
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D044362:Australasia / Q000453:epidemiology; D001706:Biopsy; D002648:Child; D002675:Child, Preschool; D003430:Cross-Sectional Studies; D016109:Epidermolysis Bullosa, Junctional / Q000453:epidemiology* / Q000473:pathology; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D046529:Microscopy, Electron, Transmission; D008875:Middle Aged; D012042:Registries; D012189:Retrospective Studies; D012867:Skin / Q000648:ultrastructure; D055815:Young Adult