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Supporting sexuality for people living with epidermolysis bullosa: clinical practice guidelines

Abstract

This article presents evidence-based Clinical Practice Guidelines (CPG) for the provision of healthcare services to address sexuality for people living with epidermolysis bullosa (EB). Currently, a lack of EB-specific research limits these services to sexual health assessment and intervention strategies designed for the general population. Due to the unique challenges of EB, a rare skin-fragility condition causing blistering responses to minor skin trauma and other systemic and secondary complications, condition-specific strategies are needed to support people with EB in achieving valued sexual lifestyles. This CPG represents the work of an international panel comprised of thirteen members including a medical doctor, nurses, psychologists, a social worker, an occupational therapist, and patient population involvement members living with EB. It describes the development of EB-specific recommendations for two primary domains of assessment and intervention related to sexuality: psychosocial and mechanical. Following a rigorous evidence-based guideline development process, this CPG establishes the first internationally actionable clinical practice recommendations for sexuality-related assessment and intervention for this population. Future research priorities are identified. Supplemental materials included provide additional support to clinicians in developing the necessary understanding and skills to promote equity and efficacy in this care domain.

Background

Epidermolysis bullosa (EB) is a rare genetic skin-fragility condition characterized by chronic blistering responses to minor skin trauma due to impairments at the dermoepidermal junction. EB is often identified at the time of birth and subsequently diagnosed and treated according to genotypic and phenotypic presentation. The four primary EB subtypes (EB simplex, junctional, dystrophic, and Kindler EB) are further subcategorized by other characteristics including but not limited to the involvement of specific body surfaces, scarring patterns, effects on body systems, changes in oral-esophageal and genitourinary structures, and specific genetic testing results [1]. While EB subtypes may differ in how they present over the lifespan, at this time EB is considered chronic and lifelong. Because of the varied and profound effects of EB on daily life, the intersection between EB and functional participation has become an increasing area of focus in the clinical and research community [2].

This guideline investigates sexuality as one such intersection. For the purposes of this guideline, a broad view of the term sexuality will be utilized which should be considered congruent with the World Health Organization’s (WHO) [3] description of “sexual health,” described as a state of “physical, emotional, mental, and social wellbeing in relation to sexuality” including “the possibility of having pleasurable and safe sexual experiences, free of coercion, discrimination, and violence”.

EB-related barriers to sexuality are unique, limiting the generalizability of other sexual health guidelines to the EB population. No current guidelines or standards exist to support these needs of the EB population, leaving this group at risk for significant inequities in care.

Objective

  • To outline the current understanding of the interaction between EB and sexuality.

  • To provide preliminary recommendations for assessment and intervention strategies to support valued sexual participation for individuals living with EB.

  • To establish future research priorities within this domain.

  • To highlight currently available resources to support clinicians in meeting the expectations of these guidelines (see Additional file 1).

Guideline users and target group

This guideline is intended for use by all members of a multidisciplinary EB team. The guidelines may also be useful for individuals living with EB and their families, carers, partners, and communities. These guidelines can be applied to support services for all persons of all ages diagnosed with any Epidermolysis Bullosa subtype.

CPG development

Stakeholder involvement and peer review

In 2017, DEBRA International consulted with the international EB community and identified the topic of sexuality as a priority area for population-specific Clinical Practice Guidelines (CPGs). This guideline was developed in accordance with the DEBRA Guideline Development Standard (see Additional file 2). The CPG development group consisted of thirteen international members representing eight countries (see Additional file 3). The draft document was circulated to thirteen international reviewers who are experts and/or healthcare professionals in the field, as well as people living with EB (see Additional file 3). Throughout the CPG development process, panel leads liaised with Kattya Mayre-Chilton at Debra International (DI) for methodological support and guidance.

PICO generation and literature search

From project initiation, the panel consistently emphasized inclusivity of the right to “sexual citizenship” as described by Linton et al. [4] with constant effort to avoid discrimination on the basis of any sexual or personal orientation, preference, age, identity or other demographic. In 2018, the CPG panel confirmed the clinical question: “What sexual health assessment and intervention strategies effectively promote the accessibility of valued sexual participation for people living with EB?” DI and EB-CLINET distributed online scoping surveys developed by the CPG panel. Responses from 63 clinicians and 113 people living with EB (and their families/carers) guided the CPG panel’s focus on two assessment and intervention domains impacting outcomes in sexual health and participation: psychosocial and mechanical (see Additional file 4). Resulting literature search terms and parameters are outlined in Table 1 and Fig. 1.

Table 1 Literature search parameters
Fig. 1
figure1

Search results and filtration

Evidence appraisal for recommendation process

All 24 articles were subject to randomly-assigned systematic quality appraisal by at least two independent panel members to reduce bias. The occupational therapy for EB: CPG [2] modified appraisal tool was utilized. In 2019, the panel produced recommendations using the Grading of Recommendations, Assessment, Development, and Evaluation (GRADE) framework [5] based on the findings of the appraised evidence, expert opinion, and, where indicated, through panel consensus (Table 2). To increase overall strength, a representative cross-section of EB multidisciplinary team specialists (8) and people living with EB (4) peer-reviewed the draft (see Additional file 3), and the Appraisal of Guidelines for Research & Evaluation (AGREE II) tool was conducted by the DI coordinator [6]. The panel addressed all resulting feedback in the final editing stage.

Table 2 Recommendations table

Results

Responses to scoping surveys directed guideline priorities (see Additional file 4). The recommendation summary has been grouped by outcome domain (psychological and mechanical) with the majority of the articles graded level 3, for small-scale case studies, or level 4, for expert opinion (Table 2). Tables 3 and 4 present a summary of appraised articles and their qualities.

Table 3 Overview of evidence for the psychosocial factors impacting sexuality domain
Table 4 Overview of evidence for the mechanical factors impacting sexuality domain

Conclusions

While research data on the topic of sexuality and EB is limited, there is enough data for this panel to state the following: A diagnosis of EB does not inherently negate or inhibit an individual’s desire or ability to participate in sexual activities, nor does it negate the human right to expression of an individual’s sexuality. As such individuals living with EB require of the health care team an approach to sexual health which addresses all of the factors relevant to the general population, as well as EB-specific assessment and intervention to promote sexual health.

The CPG recommendations herein largely promote the following general best practices:

  • Clinician self-evaluation and professional development to ensure competence in addressing sexuality throughout the lifespan without bias, judgement, or discrimination,

  • A lifespan approach to sexuality promoting early developmental skills for independence and health management followed by ongoing formative evaluation and open communication during transition to and throughout adulthood to ensure early detection and intervention for at-risk, developing, or present impairments that may affect sexual health/participation,

  • An education-based intervention model to promote self-awareness, health literacy, and informed personal decision making regarding medical and lifestyle-related sexual health choices.

At this time, there is not sufficient data to identify the efficacy and safety of most approaches to sexual health when applied to the EB population. Due to EB’s potential involvement of cutaneous and mucosal structures, genitourinary structures, and overall physical functioning, the efficacy and safety of typical mechanical methods of sexual health intervention, such as condoms and other physical barriers to prevent sexually transmitted diseases/infections, cannot be assumed generalizable to the EB population. The lack of EB-specific data on this and other lifesaving and health-preserving interventions related to sexuality presents a clear inequity in need of correction.

These guidelines provide an initial framework for supporting sexual health for people living with EB and seek to establish an open dialogue between the health care provider and the individual living with EB, as well as a larger dialogue within the EB community. To serve the community of people living with EB with equity, efficacy, and safety, further research is required.

Further research

The authors of these guidelines acknowledge a lack of evidence in the literature to support strong recommendations. This panel has identified the following future research priorities based on the needs identified by this review and the EB community in initial survey responses:

  • Data collection to improve understanding of frequency and nature of subtype-specific EB experiences of psychosocial and mechanical factors affecting sexuality and pubertal development,

  • Standardization of methods and measures for assessing sexuality-related quality of life and needs among the EB population,

  • Cultural perspectives/factors affecting experiences of sexuality within the EB population,

  • Best practices for genetic counselling and education (timing, methodology, decision making),

  • Specific assessment and intervention strategies for psychosocial factors affecting sexuality (self-image, body-image, confidence, etc.),

  • Data informing the safety and efficacy of sexually transmitted disease/infection and contraceptive intervention strategies in the EB population,

  • Assessment and intervention strategies relevant to EB child and adolescent psychosocial development, including data collection and education specifically related to pubertal maturation,

  • Specific adaptations and modifications to address mechanical barriers to participation including but not limited to commercial and medical products/resources for positioning, lubrication/friction-reduction, maintenance of genitourinary structures, fatigue/pain reduction, and human and mechanical stimulation.

Updating procedure and dissemination

The guidelines will be updated every 3–5 years or earlier if there is a significant breakthrough in EB sexuality health care treatment from the publication date. We recommend a literature search to see whether a full review is warranted at any stage.

DI aims to ensure that the EB CPG address the needs of patients internationally. The guidelines will be presented at the international DEBRA Congresses. This guideline has supplementary material which can be used as tools anywhere in the world. DI recommends that implementation of these recommendations should be monitored and evaluated through audits. The completion of a current practice audit, followed by the CPG pre-implementation survey (https://surveyhero.com/c/aabc0100) and post-implementation survey are highly recommended for best practice.

Availability of data and materials

Not applicable

Abbreviations

AGREE II:

Appraisal of Guidelines for Research and Evaluation

CPG:

Clinical Practice Guideline/s

DI:

DEBRA International

EB:

Epidermolysis bullosa

GRADE:

Grading of Recommendations, Assessment, Development, and Evaluation

PPI:

Patient population involvement

WHO:

World Health Organization

References

  1. 1.

    Has C, Bauer JW, Bodemer C, Bolling M, Bruckner-Tuderman L, Diem A, et al. Consensus re-classification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020;183(4):614–27.

    CAS  PubMed  Article  Google Scholar 

  2. 2.

    Chan JM, Weisman A, King A, Maksomski S, Shotwell C, Bailie C, et al. Occupational therapy for epidermolysis bullosa: clinical practice guidelines. Orphanet J Rare Dis. 2019;14(1):129.

    PubMed  PubMed Central  Article  Google Scholar 

  3. 3.

    World Health Organization: defining sexual health. https://www.who.int. 2006a, updated 2010. Accessed 4 May 2020.

  4. 4.

    Linton KL, Rueda HA, et al. Disability, intimacy, and sexual health: a social work perspective. Washington: NASW Press; 2017.

    Google Scholar 

  5. 5.

    The grading of recommendations assessment, development and evaluation (GRADE). The GRADE Working Group; 2004 [updated 2020; cited July 2020]. http://www.gradeworkinggroup.org/. Accessed 1 Sept 2019.

  6. 6.

    The AGREE Next Steps Consortium. Appraisal of guidelines for research & evaluation instrument (AGREE-II). The AGREE Research Trust; 2009 [updated 2017; cited July 2020]. https://www.agreetrust.org/wp-content/uploads/2017/12/AGREE-II-Users-Manual-and-23-item-Instrument-2009-Update-2017.pdf. Accessed 15 May 2020.

  7. 7.

    von der Lippe C, Diesen PS, Feragen KB. Living with a rare disorder: a systematic review of the qualitative literature. Mol Genet Genomic Med. 2017;5(6):758–73.

    PubMed  PubMed Central  Article  Google Scholar 

  8. 8.

    Lucky AW, Pfendner E, Pillay E, Paskel J, Weiner M, Palisson F. Psychosocial aspects of epidermolysis bullosa: proceedings of the II nd international symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. Int J Dermatol. 2007;46(8):809–14.

    PubMed  Article  Google Scholar 

  9. 9.

    Lucky AW, Palisson F. Overview of the proceedings of the iind international symposium on Epidermolysis Bullosa, Santiago, Chile, 2005. Int J Dermatol. 2007;46:779–80.

    Article  Google Scholar 

  10. 10.

    Magin P. Appearance-related bullying and skin disorders. Clin Dermatol. 2013;31(1):66–71.

    PubMed  Article  Google Scholar 

  11. 11.

    Martinez AE, Allgrove J, Brain C. Growth and pubertal delay in patients with epidermolysis bullosa. Dermatol Clin. 2010;28(2):357–9, xii.

    CAS  PubMed  Article  Google Scholar 

  12. 12.

    Stangier U, Ehlers A, Gieler U. Measuring adjustment to chronic skin disorders: validation of a self-report measure. Psychol Assess. 2003;15(4):532–49.

    PubMed  Article  Google Scholar 

  13. 13.

    Williams EF, Gannon K, Soon K. The experiences of young people with Epidermolysis Bullosa Simplex: a qualitative study. J Health Psychol. 2011;16(5):701–10.

    PubMed  Article  Google Scholar 

  14. 14.

    Adni T, Martin K, Mudge E. The psychosocial impact of chronic wounds on patients with severe epidermolysis bullosa. J Wound Care. 2012;21(11):528, 30–6, 38.

  15. 15.

    Dures E, Morris M, Gleeson K, Rumsey N. The psychosocial impact of epidermolysis bullosa. Qual Health Res. 2011;21(6):771–82.

    PubMed  Article  Google Scholar 

  16. 16.

    Dures E, Rumsey N, Morris M, Gleeson K. A cross sectional, observational survey to assess levels and predictors of psychological wellbeing in adults with Epidermolysis Bullosa. Health Psychol Res. 2013;1(1):e4.

    PubMed  PubMed Central  Article  Google Scholar 

  17. 17.

    Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part II. Other organs. J Am Acad Dermatol. 2009a;61(3):387–402 quiz 3–4.

    PubMed  Article  Google Scholar 

  18. 18.

    Frew JW, Martin LK, Nijsten T, Murrell DF. Quality of life evaluation in epidermolysis bullosa (EB) through the development of the QOLEB questionnaire: an EB-specific quality of life instrument. Br J Dermatol. 2009;161(6):1323–30.

    CAS  PubMed  Article  Google Scholar 

  19. 19.

    Horn HM, Tidman MJ. The clinical spectrum of dystrophic epidermolysis bullosa. Br J Dermatol. 2002a;146(2):267–74.

    CAS  PubMed  Article  Google Scholar 

  20. 20.

    Tabolli S, Sampogna F, Di Pietro C, Paradisi A, Uras C, Zotti P, et al. Quality of life in patients with epidermolysis bullosa. Br J Dermatol. 2009;161(4):869–77.

    CAS  PubMed  Article  Google Scholar 

  21. 21.

    van Scheppingen C, Lettinga AT, Duipmans JC, Maathuis CG, Jonkman MF. Main problems experienced by children with epidermolysis bullosa: a qualitative study with semi-structured interviews. Acta Derm Venereol. 2008;88(2):143–50.

    PubMed  Article  Google Scholar 

  22. 22.

    Basra MK, Shahrukh M. Burden of skin diseases. Expert Rev Pharmacoecon Outcomes Res. 2009;9(3):271–83.

    PubMed  Article  Google Scholar 

  23. 23.

    Colomb V, Bourdon-Lannoy E, Lambe C, Sauvat F, Hadj Rabia S, Teillac D, et al. Nutritional outcome in children with severe generalized recessive dystrophic epidermolysis bullosa: a short- and long-term evaluation of gastrostomy and enteral feeding. Br J Dermatol. 2012;166(2):354–61.

    CAS  PubMed  Article  Google Scholar 

  24. 24.

    Haynes L, Atherton DJ, Ade-Ajayi N, Wheeler R, Kiely EM. Gastrostomy and growth in dystrophic epidermolysis bullosa. Br J Dermatol. 1996;134(5):872–9.

    CAS  PubMed  Article  Google Scholar 

  25. 25.

    Horn HM, Tidman MJ. Quality of life in epidermolysis bullosa. Clin Exp Dermatol. 2002b;27(8):707–10.

    CAS  PubMed  Article  Google Scholar 

  26. 26.

    Hubbard LD, Mayre-Chilton K. Quality of life among adults with epidermolysis bullosa living with a gastrostomy tube since childhood. Qual Health Res. 2015;25(3):310–9.

    PubMed  Article  Google Scholar 

  27. 27.

    Fine JD, Johnson LB, Weiner M, Stein A, Cash S, DeLeoz J, et al. Genitourinary complications of inherited epidermolysis bullosa: experience of the national epidermolysis bullosa registry and review of the literature. J Urol. 2004;172(5 Pt 1):2040–4.

    PubMed  Article  Google Scholar 

  28. 28.

    Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol. 2009b;61(3):367–84 quiz 85–86.

    PubMed  Article  Google Scholar 

  29. 29.

    Hanafusa T, Tamai K, Umegaki N, Yamaguchi Y, Fukuda S, Nishikawa Y, et al. The course of pregnancy and childbirth in three mothers with recessive dystrophic epidermolysis bullosa. Clin Exp Dermatol. 2012;37(1):10–4.

    CAS  PubMed  Article  Google Scholar 

  30. 30.

    Margari F, Lecce PA, Santamato W, Ventura P, Sportelli N, Annicchiarico G, et al. Psychiatric symptoms and quality of life in patients affected by epidermolysis bullosa. J Clin Psychol Med Settings. 2010;17(4):333–9.

    PubMed  Article  Google Scholar 

  31. 31.

    Scottish Intercollegiate Guidelines Network (SIGN). SIGN 50: a guideline developer’s handbook. NHS Quality Improvement Scotland; 2007 [updated 2019; cited July 2020]. https://www.sign.ac.uk/assets/sign50_2011.pdf. Accessed 1 Sept 2019.

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Acknowledgements

The authors would like to thank the following individuals and organizations for providing support and input into these guidelines. All authors volunteered their time in the formation and completion of this project with the exception of co-lead HH who received a small stipend to support his time away from other work. DEBRA INTERNATIONAL; DEBRA Norge; Kattya Mayre-Chilton, Ph.D. RD, Clinical Practice Guideline Coordinator, DEBRA International; Review panel; Patients with epidermolysis bullosa and their caregivers. In memoriam, the panel extends tremendous gratitude to Julio Tanabe, who passed away during the CPG development process as a result of EB-related complications. He remains listed as an author and panel member with permission from his mother.

Funding

We thank DEBRA Norge for funding the development of these guidelines. Progress and budgetary updates were provided throughout project completion, but the views or interests of the funding body have not influenced the final recommendations for clinical practice.

Author information

Affiliations

Authors

Contributions

AK and HH provided direction and procedural support for the panel throughout the two-year development process, as well as played active roles in article searches and appraisals. AK served as a primary methodologist and clinical lead. AK, MP, FP, and KT attended both major two-day meetings in the development process, virtually or physically. HH, NG, IS, MW, MLi, MLa, and JT attended one of the two major meetings, virtually or physically. All members engaged in decision making and critical conversations throughout the process through virtual communication. In addition, AK, MP, FP, KT, KB, and DP, completed article appraisals (see Additional file 3).

Corresponding author

Correspondence to Alex King.

Ethics declarations

Ethics approval and consent to participate

Not applicable.

Consent for publication

Not applicable.

Competing interests

All CPG panel members and reviewers completed written conflict of interest declarations. With one exception (DP), this panel of researchers claims no financial conflicts of interest. DP declared employment with Starship Children’s Hospital, New Zealand, as well as self-employment as a dermatologist serving on a subcommittee advising Pharmac (pharmaceutical advisory board for New Zealand government) receiving honoraria from Galderma and Johnson and Johnson. All reviewers declared no potential conflicts of interest with respect to the publication of this guideline. Recommendations in these guidelines do not constitute a single approach or standard of medical care. Variations to the recommendations provided may be indicated on an individual, organizational, or other basis. Considerable efforts have been made by this panel to ensure content is accurate and up-to-date. Users of these guidelines are strongly recommended to confirm the accuracy, validity, and relevance of all information provided. The authors, DEBRA Norge, or DEBRA International accept no responsibility for any inaccuracies, information perceived as misleading, or the success of any treatment regimen detailed in the guidelines.

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Supplementary Information

Additional file 1.

Clinical Resources for the Support of Sexuality.

Additional file 2.

DI Clinical Practice Guideline Development Standard.

Additional file 3.

Panel member’s affiliations and roles, Review panel affiliations.

Additional file 4.

Limited results data from the scoping surveys completed by people living with EB.

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King, A., Hanley, H., Popenhagen, M. et al. Supporting sexuality for people living with epidermolysis bullosa: clinical practice guidelines. Orphanet J Rare Dis 16, 9 (2021). https://doi.org/10.1186/s13023-020-01640-0

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Keywords

  • Epidermolysis bullosa
  • Sexuality
  • Intimacy
  • Sexual health
  • Sex
  • Puberty