title: Long-term follow-up of patients with Herlitz-type junctional epidermolysis bullosa.
abstract: BACKGROUND
  Junctional epidermolysis bullosa, type Herlitz (JEB-H) is a rare, autosomal recessive disease caused by absence of the epidermal basement membrane adhesion protein laminin-332. It is characterized by extensive and devastating blistering of the skin and mucous membranes, leading to death in early childhood.
  
  
  OBJECTIVE
  To present the results of the long-term follow-up of a cohort of patients with JEB-H, and to provide guidelines for prognosis, treatment and care.
  
  
  METHODS
  All patients with JEB-H included in the Dutch Epidermolysis Bullosa (EB) Registry between 1988 and 2011 were followed longitudinally by our EB team. Diagnosis was established using immunofluorescence antigen mapping, electron microscopy and DNA analysis.
  
  
  RESULTS
  In total, we included 22 patients with JEB-H over a 23-year period. Their average age at death was 5.8 months (range 0.5-32.6 months). The causes of death were, in order of frequency: failure to thrive, respiratory failure, pneumonia, dehydration, anaemia, sepsis and euthanasia. The pattern of initial weight gain was a predictor of lifespan in these patients. Invasive treatments to extend life did not promote survival in our patients.
  
  
  CONCLUSIONS
  It is important to diagnose JEB-H as soon as possible after birth so that the management can be shifted from life-saving to comfort care. The palliative end-of-life care can take place in hospital, but is also safe in the home setting. Suffering in patients with JEB-H can become so unbearable that in some patients who do not respond to adequate analgesic and sedative treatment, newborn euthanasia, performed according to the Groningen protocol, is legally permitted in the Netherlands.
authors.affiliation: Department of Dermatology, Center for Blistering Diseases, University of Groningen, University Medical Center Groningen, Hanzeplein 1, 9700 RB Groningen, The Netherlands. w.y.yuen@umcg.nl
authors.forename: W Y
authors.initials: WY
authors.lastname: Yuen
authors.forename: J C
authors.initials: JC
authors.lastname: Duipmans
authors.forename: B
authors.initials: B
authors.lastname: Molenbuur
authors.forename: I
authors.initials: I
authors.lastname: Herpertz
authors.forename: J M
authors.initials: JM
authors.lastname: Mandema
authors.forename: M F
authors.initials: MF
authors.lastname: Jonkman
mesh_terms: D002423:Cause of Death; D002675:Child, Preschool; D016109:Epidermolysis Bullosa, Junctional / Q000150:complications / Q000401:mortality* / Q000628:therapy; D005260:Female; D005500:Follow-Up Studies; D006128:Growth / Q000502:physiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008017:Life Expectancy; D008297:Male; D009426:Netherlands / Q000453:epidemiology; D011379:Prognosis; D012042:Registries; D015430:Weight Gain / Q000502:physiology