| Author/Editor | El Hachem, May; Dolenc-Voljč, Mateja | |
| Title | Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa | |
| Type | članek | |
| Vol. and No. | Letnik 9, št. 76 | |
| Publication year | 2014 | |
| Volume | str. 1-20 | |
| ISSN | 1750-1172 - Orphanet journal of rare diseases | |
| Language | eng | |
| Abstract | Background: Inherited epidermolysis bullosa (EB) comprises a highl y heterogeneous group of rare diseases characterized by fragility and blistering of skin and mucous membranes. Cli nical 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 requi red 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 mu ltiorgan involvement, major mor bidity and life-threatening complications. In the absence of a cur e, patient management remains based on preventive measures, together with symptomatic treatment of cutaneous and extracutaneous mani festations and complications. The rarity and complexity of EB challenge its appropriate care. Thus, the aim of the presen t study has been to generate mult icentre, 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 diff erent 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 the rapeutic patient education, care of disease burden and continuity of care are also developed. Conclusion: TherecommendationsareexpectedtobeusefulfordailyglobalcareofEBpatients,inparticularinthe community setting. An optimal management of patients is also a prerequisite to allow them to benefit from the specific molecular and cell-based treatment s currently under development. | |
| Keywords | Inherited epidermolysis bullosa Multidisciplinary man agement recommendations Skin care Wound care Itch Pain therapeutic education Disease burden Quality of life Continuity of care |