Epidermolysis Bullosa

The Epidermolysis Bullosa 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 Epidermolysis Bullosa 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 provide tertiary care delivered in a variety of ways: 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.

The Epidermolysis Bullosa Team are part of the Dermatology Department at GOSH provides a comprehensive service for the diagnosis and management of the rare genetic condition Epidermolysis Bullosa (EB) and other blistering skin conditions. We treat the following conditions:

Dystrophic Epidermolysis Bullosa (DEB)

• Epidermolysis Bullosa mild dystrophic type
• Severe Recessive Dystrophic Epidermolysis Bullosa

Junctional Epidermolysis Bullosa (JEB)

• Junctional Epidermolysis Bullosa eb Pyloric Atresia

Junctional LOC – (Info sheet to be added)

Epidermolysis Bullosa Simplex (EBS)

• Epidermolysis Bullosa Simplex Generalised Severe Type

Kindler Epidermolysis Bullosa

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

The Epidermolysis Team operates across one ward, one Ambulatory Care Unit and two Outpatient departments.

Pelican Ward

Dermatology patients are treated on Pelican Ward.

Outpatient clinics - Epidermolysis bullosa clinic

• Tuesday afternoon – Zayed Centre for Research
  • Dr A Martinez (EB Lead clinician), Dr G Petrof[GP1]
  • Supported by EB clinical research fellows (Dr Maria Bageta and Dr Pablo Lopez-Balboa)
  • Nurse Led Clinic – EB Clinical Nurse Specialist

• Thursday Afternoon – Hippo Outpatients
  • Dr A Martinez (EB Lead clinician), Dr G Petrof[GP2]
    • Supported by EB clinical research fellows (Dr Maria Bageta and Dr Pablo Lopez-Balboa)

Multi-Disciplinary Review

EB patients will be reviewed on Pelican Ambulatory Ward for admission as a day case. Admission will be at 11am and several appointments may be scheduled throughout the day.

EB patients with gastroenterology issues are reviewed weekly with the Gastroenterology Consultants who offer their expert advice and management of gastro symptoms.

EB patients requiring feeding devices are discussed and offered appointments in allocated EB MDT Surgical clinic.

Key members of the Epidermolysis Bullosa Team include:

• Consultants
• Clinical Nurse Specialists
• Service Co-ordinator
• Administrative Support
• Psychologist
• Occupational Therapist
• Physiotherapist
• EB Research Fellows
• Dietitian
• Dental
• EB Podiatrist

Consultants

• Dr Anna Martinez
  • Consultant Paediatric Dermatologist and Honorary Associate Professor and Clinical Lead of the Epidermolysis Bullosa Service.
  • Expertise: Epidermolysis bullosa and skin fragility disorders, congenital ichthyosis, Netherton syndrome, severe eczema and infantile haemangiomas
• Dr Gabriela Petrof
  • Consultant Paediatric Dermatologist
  • Expertise: Epidermolysis bullosa and skin fragility disorders, congenital ichthyosis, Netherton syndrome, severe eczema and infantile haemangiomas

Clinical Nurse Specialists

• Rebecca Allan
• Janet Hanson
• Katie Plevey
• Finola Sheehan
• Sophie Randall
• Service Co-ordinator
• Sonia Ama

Administrative Support

• Iyoni Skerrit
• Psychologist
• Dr Gary Burgess[GP1]
• Occupational Therapist
• Catherine Miller
• Dietitian
• Natalie Yerlett
• Physiotherapist
• Michelle Wood

EB Clinical Research Fellows

• Dr Maria Bageta
• Dr Pablo Lopez Balboa
• Dental Team
• Dr Kunal Patel
• Julia Sparrow
• Jenny Wood
• EB Podiatrist
• Jill Thirkettle

Refer a patient to the Epidermolysis Bullosa Team

This page includes information about how to make a referral to the EB Team at Great Ormond Street Hospital (GOSH). 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.
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 Department
Level 8, Nurses Home
Great Ormond Street Hospital
Great Ormond Street
London
WC1N 3JH

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

EB Service Co-ordinator – Sonia Ama

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

Telephone number: 020 7405 9200 extension 7808

EB Clinical Nurse Specialists

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

EB Clinic Appointment queries – Iyoni Skerrit

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

Telephone number: 020 7405 9200 extension 5215

There is a wide variety of research carried out across Great Ormond Street Hospital

Current active studies include:

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

Examples of previous studies:

1. Bageta ML, Yerlett N, Rybak A, Balboa PL, 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.
2. 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
3. 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