Since 2002, epidermolysis bullosa (EB) services in England (see list below) have been nationally funded by the National Commissioning Group (NCG), which also funds the National Diagnostic EB Laboratory. This provides a comprehensive multidisciplinary service including relevant medical and nursing specialists, therapists, investigations, and treatments. This service also covers Welsh and Scottish patients although there is also a clinical center in Edinburgh, and keratin gene testing for EB simplex is undertaken in Dundee. The NCG-funded centers and laboratory have close links with each other and DebRA (Dystrophic Epidermolysis Bullosa Research Association), meeting regularly to discuss protocols, audit, and service developments. A national EB database has also been set up as part of the NCG service and a Scottish EB register has also been established for a number of years. DebRA UK funds some of the adult and pediatric EB clinical nurse specialists in the United Kingdom and a team of social care managers.

There are thought to be approximately 5000 people with EB in the United Kingdom, of whom around 350 have a severe form. Currently, approximately 900 of these patients regularly attend a specialist center for EB.

The National Health Service (NHS) funds all aspects of clinical care for patients with EB, including dressings, drugs, and hospital treatments.

The National Diagnostic EB Laboratory in London undertakes skin biopsy (immunofluorescence and electron microscopy) and molecular testing (except keratin 5 or 14 in EB simplex cases) for United Kingdom patients (and overseas patients, although a fee is charged). They also carry out prenatal testing for severe forms of EB from chorionic villus sampling or fetal skin biopsy. Preimplantation genetic diagnosis is also licensed for Herlitz junctional EB (with LAMA3 or LAMB3 mutations) and recessive dystrophic EB. EB simplex KRT5 and KRT14 gene testing is performed at Ninewell’s Hospital, Dundee.

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  Contacts

  
  
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  Birmingham Children’s Hospital NHS Foundation Trust (Prof Celia Moss), Pediatric EB Service, Steelhouse Lane, Birmingham, W Midlands B4 6NH, UK. Tel: +44 (0) 121 333 8224, e-mail: eb.team@bch.nhs.uk .

  
  
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  Birmingham Heartlands and Sollihull NHS Trust (Dr Adrian Heagerty), Adult EB Service, Bordesley Green East, Birmingham, W Midlands B9 5SS, UK. Tel: +44 (0) 121 424 4563, e-mail: Adrian.heagerty@heartofengland.nhs.uk .

  
  
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  Great Ormond Street Hospital for Children NHS Trust (Dr Anna Martinez, Dr Jemima Mellerio), Pediatric EB Service, Great Ormond Street, London WC1N 3JH, UK. Tel: +44 (0) 20 7829 7808, e-mail: martia@gosh.nhs.uk , mellej@gosh.nhs.uk .

  
  
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  Guy’s and St Thomas’ NHS Foundation Trust (Prof John McGrath, Dr Jemima Mellerio, Dr Ann Marie Powell), Adult EB Service, St Thomas’ Hospital, Westminster Bridge Road, London SE1 7EH, UK. Tel: +44 (0) 20 7188 6399, e-mail: jemima.mellerio@gstt.nhs.uk .

  
  
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  EB Service (Dr Mike Tidman, Dr Olivia Schofield, Dr Helen Horn), Department of Dermatology, Old Royal Infirmary of Edinburgh, Lauriston Building, Lauriston Place, Edinburgh EH3 9HA, UK. Tel: +44 (0) 131 536 2414, e-mail: helen.horn@luht.scot.nhs.uk .

  
  
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  Robin Eady National Diagnostic EB Laboratory (Trish Dopping-Hepenstal Head of Laboratory), St John’s Institute of Dermatology, Basement, South Wing Stair C, St Thomas’ Hospital, Westminster Bridge Road, London SE1 7EH, UK. Tel: +44 (0) 20 7188 7229, e-mail: EBLab@gstt.nhs.uk .

  
  
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  East of Scotland Regional Genetics Service (Dr David Baty, Dr Ana Terron-Kwiatkowski), Level 6, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK, Tel: +44 (0) 1382 496261, e-mail: dbaty@nhs.net , aterron-kwiatkowski@nhs.net .

  
  
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  DebRA UK, DebRA House, 13 Wellington Business Park, Duke’s Ride, Crowthorne, Berkshire RG45 6LS, UK, Tel: +44 (0) 1344 771961, e-mail: debra@debra.org.uk .