Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

May El Hachem, Giovanna Zambruno, Eva Bourdon-Lanoy, Annalisa Ciasulli, Christiane Buisson, Smail Hadj-Rabia, Andrea Diociaiuti, Carolina F. Gouveia, Angela Hernández-Martín, Raul De Lucas Laguna, Mateja Dolenc-Voljč, Gianluca Tadini, Guglielmo Salvatori, Cristiana De Ranieri, Stephanie Leclerc-Mercier, Christine Bodemer

Research output: Contribution to journalArticle

Abstract

Background: Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Clinical features combined with immunofluorescence antigen mapping and/or electron microscopy examination of a skin biopsy allow to define the EB type and subtype. Molecular diagnosis is nowadays feasible in all EB subtypes and required for prenatal diagnosis. The extent of skin and mucosal lesions varies greatly depending on EB subtype and patient age. In the more severe EB subtypes lifelong generalized blistering, chronic ulcerations and scarring sequelae lead to multiorgan involvement, major morbidity and life-threatening complications. In the absence of a cure, patient management remains based on preventive measures, together with symptomatic treatment of cutaneous and extracutaneous manifestations and complications. The rarity and complexity of EB challenge its appropriate care. Thus, the aim of the present study has been to generate multicentre, multidisciplinary recommendations on global skin care addressed to physicians, nurses and other health professionals dealing with EB, both in centres of expertise and primary care setting. Methods. Almost no controlled trials for EB treatment have been performed to date. For this reason, recommendations were prepared by a multidisciplinary team of experts from different European EB centres based on available literature and expert opinion. They have been subsequently revised by a panel of external experts, using an online-modified Delphi method to generate consensus. Results: Recommendations are reported according to the age of the patients. The major topics treated comprise the multidisciplinary approach to EB patients, global skin care including wound care, management of itching and pain, and early diagnosis of squamous cell carcinoma. Aspects of therapeutic patient education, care of disease burden and continuity of care are also developed. Conclusion: The recommendations are expected to be useful for daily global care of EB patients, in particular in the community setting. An optimal management of patients is also a prerequisite to allow them to benefit from the specific molecular and cell-based treatments currently under development.

Original languageEnglish
Article number76
JournalOrphanet Journal of Rare Diseases
Volume9
Issue number1
DOIs
Publication statusPublished - May 20 2014

Keywords

  • Continuity of care
  • Disease burden
  • Inherited epidermolysis bullosa
  • Itch
  • Multidisciplinary management recommendations
  • Pain
  • Quality of life
  • Skin care
  • Therapeutic education
  • Wound care

ASJC Scopus subject areas

  • Medicine(all)
  • Genetics(clinical)
  • Pharmacology (medical)

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    El Hachem, M., Zambruno, G., Bourdon-Lanoy, E., Ciasulli, A., Buisson, C., Hadj-Rabia, S., Diociaiuti, A., Gouveia, C. F., Hernández-Martín, A., De Lucas Laguna, R., Dolenc-Voljč, M., Tadini, G., Salvatori, G., De Ranieri, C., Leclerc-Mercier, S., & Bodemer, C. (2014). Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet Journal of Rare Diseases, 9(1), [76]. https://doi.org/10.1186/1750-1172-9-76