https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/epidermolysis-bullosa/

Epidermolysis Bullosa (EB)

Introduction

The EB department at Great Ormond Street Hospital (GOSH) is part of the National EB Service which covers the South of England, GOSH Paediatric National Epidermolysis Bullosa service. Together with Birmingham Children’s Hospital, we provide specialist care for children with EB which aims to provide diagnosis and assessment of infants, children, and adolescents with suspected or known EB, along with treatment and long-term support.

We serve as the principal treatment centre for London and the Southern part of England and the service provides excellent multi-disciplinary tertiary care for over 450 patients affected with this rare condition.

We deliver tertiary care through: outpatient clinics; multi-disciplinary day case reviews; day case reviews; inpatient admissions (elective and emergency); outreach Clinical Nurse Specialist (CNS) visits.

The clinical service is enhanced by exceptional clinical research, whereby the new findings and benefits discovered in research are translated to medical practice quickly and efficiently.

You can read more about our EB team and the clinics we cover here: The epidermolysis bullosa (EB) team

EB information pages

The EB team are part of the Dermatology department and provide a comprehensive service for the diagnosis and management of EB and other blistering skin conditions. We treat the following conditions:

Neonates with suspected Epidermolysis Bullosa (EB)

Dystrophic Epidermolysis Bullosa (DEB)

Junctional Epidermolysis Bullosa (JEB)

Epidermolysis Bullosa Simplex (EBS)

Kindler Epidermolysis Bullosa

Other conditions we treat

The EB team also offer advice on other rare skin diseases including those conditions which result in an impaired skin barrier or blistering:

  • Congenital Ichthyosis
  • Netherton Syndrome
  • Acral Peeling Skin Syndrome
  • Autoimmune Blistering

How can I contact the EB team?

EB Service Co-ordinator- Sonia Ama

Telephone number: 020 7405 9200 extension 7808

Nurses Home, Level 8
Great Ormond Street Hospital
Great Ormond Street
London
WC1N 3JH

Iyoni Skerrit

Telephone number: 020 7405 9200 extension 5215

Nurses Home, Level 8

Great Ormond Street Hospital

Great Ormond Street

London

WC1N 3JH

Telephone number: 020 7405 9200 extension 5053
Email: gos-tr.ebnurses@nhs.net

Nurses Home, Level 8 Great Ormond Street Hospital Great Ormond Street London
WC1N 3JH

Further support

DEBRA is a National charity and patient support organisation. They have a dedicated team with a wide range of skills, knowledge and experience to deliver EB support services including practical, financial, emotional support and advocacy for the EB community.

Find out more about DEBRA

Cure EB is a charity solely dedicated to find and fund research into treatments and, ultimately, a cure for all forms of EB. Their aim is focused research around developing treatments to provide symptomatic relief, quality of life change and those projects aiming to cure the condition.

Find out more about CURE EB

EB information for health professionals

As a tertiary care hospital, all children who attend GOSH must be referred via Paediatric Dermatology Consultants, Community Paediatricians, Neonatal Units or via a GP.

Refer a patient with suspected EB urgently:

Please contact the GOSH switchboard on 020 7405 9200 and ask for the Dermatology Registrar on call.

  • All new suspected EB referrals should be discussed with the Dermatology Registrar.
  • A written referral should then follow through email with pictures.
  • All relevant imaging should be sent electronically via secure email at the time of the referral.

Refer a patient with suspected EB non-urgently:

Dermatology referrals: gos-tr.Dermatology-Gosh@nhs.net

Dermatology Department

Level 8, Nurses Home

Great Ormond Street Hospital

Great Ormond Street

London

WC1N 3JH

The course is aimed at healthcare professionals who are involved in the management or care of patients with EB, but may be of interest to anyone wishing to increase their understanding of this rare condition, particularly dermatology nurses, trainees and consultants.

Course directors - Janet Hanson, Clinical Nurse Specialist (EB) and Kati Paalosalo-Harris, Clinical Nurse Specialist (EB).

Find out here more information about the EB course

Research and publications from the EB team:

  1. MISSION EB - Double-blinded placebo control study of Mesenchymal Intravenous Stromal cell Infusions in children with recessive dystrophic Epidermolysis Bullosa
  2. PEBLES - Prospective Epidermolysis Bullosa Longitudinal Evaluation Study. Natural History and Clinical Endpoints Study in Epidermolysis Bullosa
  3. Combined respiratory epithelial cell and gene therapy for amelioration of respiratory symptoms in children with junctional epidermolysis bullosa (JEB) - in collaboration with ENT
  4. RHEACELL - A double-blind, randomized, placebo-controlled, interventional, multicentre, phase III clinical trial to investigate the safety and efficacy of ABCB5-positive mesenchymal stromal cells (ABCB5+ MSCs) on epidermolysis bullosa (EB)
  5. Diacerein - An International, Multicentre, Randomized, Double-Blind, Parallel Group, Vehicle-Controlled, Phase 2/3 Study Evaluating the Efficacy and Safety of Diacerein 1% Ointment for the Treatment of Generalized Epidermolysis Bullosa Simplex (EBS)

Natural History of RDEB Severe - 4 Phases

Bageta ML, Yerlett N, McGrath JA, Mellerio JE, Petrof G, Martinez AE. The Natural History of Severe Recessive Dystrophic Epidermolysis Bullosa – 4 Phases Which may Help Determine Different Therapeutic Approaches. J Dermatol Venereol. 2021;2(2):20-21

Neonatal EB: best practice guideline

Rebecca Saad, José Duipmans, Natalie Yerlett, Katie Plevey, Catherine McCuaig, William Woolfe, K Steinau, Jennifer Phillips, Nina Azzopardi, Kerry Thompson, Anna Carolina Ferreira da Rocha, Maurico Torres-Pradilla, Hagen Ott, Declan Patton, Zena Moore, Paul Murphy, Kattya Mayre-Chilton, Neonatal epidermolysis bullosa: a clinical practice guideline, British Journal of Dermatology, Volume 190, Issue 5, May 2024, Pages 636–656, doi: 10.1093/bjd/ljae006

Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, Fine JD, Heagerty A, Hovnanian A, Marinkovich MP, Martinez AE, McGrath JA, Moss C, Murrell DF, Palisson F, Schwieger-Briel A, Sprecher E, Tamai K, Uitto J, Woodley DT, Zambruno G, Mellerio JE. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020 Oct;183(4):614-627. doi: 10.1111/bjd.18921. Epub 2020 Mar 11. PMID: 32017015

Best practice guidelines on skin and wound care in Epidermolysis Bullosa

International consensus best practice guidelines on skin and wound care in Epidermolysis Bullosa.

  1. Jeffs E, Pillay E, Ledwaba-Chapman L, Bisquera A, Robertson S, McGrath J, Wang Y, Martinez A, Patel A, Mellerio J. Costs of UK community care for individuals with recessive dystrophic epidermolysis bullosa: Findings of the Prospective Epidermolysis Bullosa Longitudinal Evaluation Study. Skin Health Dis. 2024 Jan 10;4(1):e314. doi: 10.1002/ski2.314. PMID: 38312260; PMCID: PMC10831550
  2. Bageta ML, Wood M, Lopez Balboa P, Petrof G, Martinez AE. Hypermobility in patients with epidermolysis bullosa—A retrospective observational study from a national referral center. JEADV Clinical Practice. 2023 Nov 21. doi: 10.1002/jvc2.323
  3. Bageta ML, Yerlett N, Rybak A, Lopez Balboa P, Petrof G, Martinez AE. Management of acute sloughing of the esophageal lining in patients with dystrophic epidermolysis bullosa-A series of six pediatric patients. Pediatr Dermatol. 2023 Nov-Dec;40(6):1010-1014. doi: 10.1111/pde.15406. Epub 2023 Jul 26. PMID: 37496109
  4. Mellerio JE, Pillay EI, Ledwaba-Chapman L, Bisquera A, Robertson SJ, Papanikolaou M, McGrath JA, Wang Y, Martinez AE, Jeffs E. Itch in recessive dystrophic epidermolysis bullosa: findings of PEBLES, a prospective register study. Orphanet J Rare Dis. 2023 Aug 9;18(1):235. doi: 10.1186/s13023-023-02817-z. PMID: 37559055; PMCID: PMC10410928
  5. Teng J, Paller AS, Bruckner AL, Martinez AE, et al. Diacerein 1% Ointment for the Treatment of Epidermolysis Bullosa Simplex: A Randomized, Controlled Trial. J Drugs Dermatol. 2023 Jun 1;22(6):599-604
  6. Mellerio JE, Kiritsi D, Marinkovich MP, Haro NR, Badger K, Arora M, Dziasko MA, Vithlani M, Martinez AE. Mapping the burden of severe forms of epidermolysis bullosa - Implications for patient management. JAAD Int. 2023 Mar 29;11:224-232. bullosa: time to come together for better outcomes. Br J Dermatol. 2023 Jul 7;189(1):5
  7. Jackson A, Moss C, Chandler KE, Balboa PL, Bageta ML, Petrof G, Martinez AE, Liu L, Guy A, Mellerio JE, Lee JYW, Ogboli M, Ryan G; Genomics England Research Consortium; McGrath JA, Banka S. Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects. Br J Dermatol. 2023 Jan 23;188(1):75-83
  8. Box R, Bernardis C, Pleshkov A, Jessop N, Miller C, Skye J, O'Brien V, Veerkamp M, da Rocha ACF, Cornwall R. Hand surgery and hand therapy clinical practice guideline for epidermolysis bullosa. Orphanet J Rare Dis. 2022 Nov 7;17(1):406
  9. Yerlett N, Petrof G, Bageta M, Balboa PL, Martinez AE. The impact of using a multistrain probiotic supplement on gastrointestinal function in children and adolescents with severe recessive dystrophic epidermolysis bullosa. Clin Exp Dermatol. 2022 Nov 11:llac070
  10. Bageta ML, Cella E, Cervini AB, Centeno MDV, Roquel L, Mee JB, Groves RW, Calonje E, Goodwin RG, Mellerio JE, Petrof G, Martinez AE. Epidermolysis bullosa acquisita: a case series of three paediatric patients. Clin Exp Dermatol. 2022 Jul;47(7):1346-1349
  11. Yerlett N, Loizou A, Bageta M, Petrof G, Martinez AE. Establishing an appropriate level of vitamin D supplementation in paediatric patients with recessive dystrophic epidermolysis bullosa. Clin Exp Dermatol. 2022 Jul;47(7):1307-1313
  12. Petrof G, Papanikolaou M, Martinez AE, Mellerio JE, McGrath JA, Bardhan A, Harper N, Heagerty A, Ogboli M, Chiswell C, Moss C. The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database. Br J Dermatol. 2022 May;186(5):843-848
  13. Yerlett, Natalie, Shen, Hsin-Chin & Ma, Zhongjie et al. (2021). Development of OctiPAT: a patient-facing mobile and web-based application to provide higher quality, patient-focused, multidisciplinary care to a complex patient cohort. Archives of Disease in Childhood. 106. A1.3-A2. 10.1136/archdischild-2021-gosh.3
  14. Yerlett, Natalie & Petrof, Gabriela et al. (2021). Prevalence and treatment of vitamin K deficiency in paediatric patients with recessive dystrophic epidermolysis bullosa‐severe subtype. Skin Health and Disease. 1. 10.1002/ski2.14
  15. Yerlett, Natalie. (2020). Epidermolysis Bullosa and Rare Skin Disorders. 10.1002/9781119467205.ch22.
Compiled by:
The EB team
Last review date:
April 2025
Ref:
0425CWT0001