Epidermolysis bullosa

EB is a highly complex condition which requires of the participation of an interdisciplinary team to tackle the attention to the different sanitary and social aspects.

To help ensure the best possible attention for people with EB and their families around the world, DEBRA International has a long-term initiative to develop clinical practical guides (CPG) for EB. The CPG give information on the practical improvements and recommendations which guide the health and social care professionals while they tend to people with EB. The guidelines are based on the evidence obtained from medical science and, when there is no such evidence, in the opinion of experts, both professionals and patients. In such a complex pathology as EB, where the healthcare approaches differ a lot, the CPG provide a very useful framework to support and improve the clinical and social care decision-taking.

Next is the list of Clinical Practical Guides published up to date:

1. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines (https://www.debra-international.org/cancer-management-in-eb-cpg).

Objective of the guide: provide information on the diagnosis and treatment of cutaneous squamous cell carcinoma (SCC) in people with EB to improve the results and quality of life of the patients. 

Objective users: health personnel specialized in dermatology, paediatrics, plastic or dermatologic surgery, oncology, dermo-pathology, palliative care, nursing and people who live with EB.

2. Preventative nutritional care guideline for constipation management for children and adults with epidermolysis bullosa (EB) (https://www.debra-international.org/constipation-management-in-eb-cpg).

Objectives of the guide: provide information on the improvements on the current practices in prevention of constipation with the use of nutrition for all ages and all types of EB; promote a higher oral ingestion of foods and liquids containing fibre; encourage regular bowel movement without pain; reduce the risk of chronic constipation, faecal impaction, rectal pain and bleeding, anal stenosis;be used as a tool for the prevention and treatment of constipation when there is no access to a specialist dietitian; encourage collaboration from everyone by including and adding high-fibre foods to the table.

Objective users:health personnel specialized in dietetics and nutrition, gastroenterology, dermatology, paediatrics, surgery, dentistry, nursing, psychology, speech therapy, physiotherapy, occupational therapy, radiology, general medicine and people living with EB and their families.

3. Foot care in epidermolysis bullosa: evidence-based guideline (https://www.debra-international.org/foot-care-in-eb-cpg).

Objectives of the guide:describe foot problems in people with EB of all ages; describe the current practice of podiatry in people with EB in the UK and Australia; highlight specific considerations for different EB subtypes and provide guidance for foot care in EB.

Objective users:podiatric health workers, general health professionals, people with EB (all ages and subtypes), their families and carers, education staff, employers, shoe manufacturers, stakeholders and legislators.

4. Clinical practice guidelines for laboratory diagnosis in epidermolysis bullosa (https://www.debra-international.org/laboratory-diagnosis-in-eb-cpg).

Objectives of the guide:provide information on the laboratory diagnosis of hereditary EB that allows for early prognosis of disease severity, decision-making for patient management, informed genetic counselling, long-term surveillance and management of possible complications, inclusion in clinical trials and precision medicine.

Objective users:healthcare personnel specializing in dermatology, neonatology, paediatrics, genetics and genetic counselling, medicine and laboratory techniques, nursing, and people living with (suspected) EB and their families.

5. Occupational therapy for epidermolysis bullosa: clinical practice guidelines (https://www.debra-international.org/occupational-therapy-in-eb-cpg).

Objectives of the guide:provide information on current best practices for the provision of Occupational Therapy (OT) for people with EB who have limitations in their daily activities due to pain, blistering and contractures. Whenever possible, the information is classified for paediatric and adult patients.

Objective users:health personnel specialized in occupational therapy, rehabilitation, medicine, nursing, physiotherapy, social work, educational personnel, employers of people with EB and people living with EB and their families.

6. Clinical practice guidelines: Oral health care for children and adults living with epidermolysis bullosa (https://www.debra-international.org/oral-health-care-in-eb-cpg).

Objectives of the guide:provide a comprehensive review of oral manifestations in those living with each type of hereditary EB; current best practices for managing oral health care for people living with EB; current best practices on dental implant-based oral rehabilitation for patients with recessive dystrophic EB (RDEB); and current best practices for the management of local anaesthesia, principles of sedation, and general anaesthesia for children and adults with EB undergoing dental treatment.

Objective users:health personnel specialized in paediatric dentistry, special care dentistry, orthodontics, oral and maxillofacial surgery, endodontics, periodontics, implantology and rehabilitation; general dentistry, dental hygiene, anaesthesia and other health professionals who care for EB patients who need dental treatment under sedation or general anaesthesia, paediatrics, dermatology, otorhinolaryngology, nursing, dietetics, speech therapy and people living with EB and their families.

7. Pain care for patients with epidermolysis bullosa: best care practice guidelines (https://www.debra-international.org/pain-care-in-eb-cpg).

Objectives of the guide:provide information on pain management in children and adults with hereditary EB.

Objective users:health professionals, people living with EB and their families.

8. Physiotherapy for epidermolysis bullosa: clinical practice guidelines (https://www.debra-international.org/physiotherapy-cpg).

Objectives of the guide:provide evidence-based recommendations for the management of physiotherapy services for patients with EB; provide a CPG for any physiotherapist who may encounter a person with EB for the first time and provide them with resources to justify improving mobility, flexibility and strengthening activities to improve cardiovascular involvement so that they can improve their quality of life; and identify areas where there is a lack of evidence and promote future research in physiotherapy.

Objective users:health personnel specialized in physiotherapy, rehabilitation, nursing, occupational therapy, psychomotor therapy, social work, educational personnel, employers of people with EB and people with EB and family members.

9. Recommendations on pregnancy, childbirth and aftercare in epidermolysis bullosa: a consensus-based guideline (https://www.debra-international.org/pregnancy-childbirth-aftercare-cpg).

Objectives of the guide:improve the effectiveness and quality of pregnancy and childbirth care for women of reproductive age with EB, decrease variation in clinical practice internationally, provide evidence-based recommendations that will provide measurable standards of care and benchmarks, and highlight quality improvement initiatives linked to clinical practice guidelines (CPG).

Objective users:women with EB and their partners, health personnel specialized in dermatology, obstetrics, anaesthesiology, neonatology, paediatrics, nursing, family medicine, psychology and related health professionals.

10. Psychosocial recommendations for the care of children and adults with epidermolysis bullosa and their family: evidence based guideline (https://www.debra-international.org/psychosocial-care-in-eb-cpg).

Objectives of the guide:provide guidance on the psychosocial needs of people with EB, their families and those who care for them; outline the current state of science on the psychosocial implications of EB in patients and their families; include recommendations for care; and identify gaps in knowledge to encourage future research.

Objective users:professionals working to help those living with EB, employers, educational staff, stakeholders, and legislators.

11. Psychosocial guidance for social and healthcare professionals/epidermolysis bullosa (EB) teams (https://www.debra-international.org/psychosocial-care-in-eb-cpg).

Objectives of the guide: provide information on the psychosocial support that professionals can offer people with EB and their families.

Objective users: healthcare professionals/EB teams working with EB patients and their families.

12. International consensus best practice guidelines skin and wound care in epidermolysis bullosa (https://www.debra-international.org/skin-and-wound-care-in-eb-cpg).

Objectives of the guide:assist all medical staff who manage skin and wound care for EB patients. Management strategies for wounds or wound complications are suggested for patients of any age diagnosed with any form of hereditary EB. It is a tool that can be used globally and includes advice for healthcare workers who have limited access to wound care materials.

Objective users:all medical staff working globally and managing the skin and wound care of EB patients.

13. Supporting sexuality for people living with epidermolysis bullosa: clinical practice guidelines (https://www.debra-international.org/supporting-sexuality-in-eb-cpg).

Objectives of the guide:describe the current understanding of the interaction between EB and sexuality, provide preliminary recommendations for assessment and intervention strategies to support meaningful sexual participation for people living with EB, set future research priorities within this domain and highlight the resources currently available to support medical personnel in meeting the expectations of these guidelines.

Objective users:components of a multidisciplinary EB team. The guidelines may also be useful to people living with EB and their families, carers, partners and communities.