Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

Orphanet Journal of Rare Diseases

Christine Bodemer⁹  Stephanie Leclerc-Mercier^1,10  Cristiana De Ranieri⁴  Guglielmo Salvatori²  Gianluca Tadini⁷  Mateja Dolenc-Voljč¹  Raul de Lucas Laguna⁶  Angela Hernández-Martín⁸  Carolina F Gouveia⁵  Andrea Diociaiuti³  Smail Hadj-Rabia⁹  Christiane Buisson^1,10  Annalisa Ciasulli³  Eva Bourdon-Lanoy^1,10  Giovanna Zambruno^1,11  May El Hachem³ 

[1] Department of Dermatovenereology, University Medical Centre Ljubljana, Ljubljana, Slovenia;Neonatal Intensive Care Unit, Department of Medical and Surgical Neonatology, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy;Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio, 4, 00165 Rome, Italy;Clinical Psychology Unit, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy;Dermatology University Clinic, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte EPE, Lisbon, Portugal;Department of Dermatology, Hospital Infantil La Paz, Madrid, Spain;Section of Dermatology, Fondazione IRCCS Cà Granda-Ospedale Maggiore Policlinico di Milano, Milan, Italy;Department of Dermatology, Hospital Infantil del Niño Jesús, Madrid, Spain;Université Paris Descartes - Sorbonne Paris Cité, Institut Imagine, Paris, France;Department of Dermatology, Necker–Enfants Malades Hospital, National reference centre for Genodermatoses (MAGEC), 149 rue de Sèvres, 75015 Paris, France;Laboratory of Molecular and Cell Biology, Istituto Dermopatico dell’Immacolata, IDI-IRCCS, Rome, Italy

关键词: Continuity of care;    Quality of life;    Disease burden;    Therapeutic education;    Pain;    Itch;    Wound care;    Skin care;    Multidisciplinary management recommendations;    Inherited epidermolysis bullosa;   

Others  :  1228428
DOI  :  10.1186/1750-1172-9-76

 received in 2013-11-25, accepted in 2014-04-16,  发布年份 2014

【 摘 要 】

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.

【 授权许可】

   
2014 El Hachem et al.; licensee BioMed Central Ltd.

【 图 表 】

Figure 1.

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