Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases

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Abstract

Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of different types of EB varies markedly as does the occurrence of extra-cutaneous involvement and complications. A number of emergency situations may occur in the context of EB including obstruction to oral intake from oral or esophageal blisters or scarring, acute airway obstruction, acute urinary retention, sepsis and corneal erosions. Whilst general management principles apply in each of these settings, specific considerations are essential in managing EB to avoid undue trauma or damage to delicate tissues. These recommendations have been developed from a literature review and consensus from experts of the European Network for Rare Skin Disorders (ERN-Skin) to aid decision-making and optimize clinical care by non-EB expert health professionals encountering emergency situations in babies, children and adults with EB.

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Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

May El Hachem, Giovanna Zambruno, Eva Bourdon-Lanoy … (2014)

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.

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Cause-specific risks of childhood death in inherited epidermolysis bullosa.

Jo-David Fine, Lorraine Johnson, Madeline Weiner … (2008)

To determine the cause-specific risks of death in children with epidermolysis bullosa (EB). Data were collected throughout the continental United States between 1986 and 2002 by the National EB Registry. The study design is cross-sectional (n = 3280), containing within it a nested randomly sampled longitudinal subcohort (n = 450). The risk of death during infancy and childhood was greatest in junctional EB (JEB), with cumulative and conditional risks of 40% to 44.7% by age 1 in both JEB subtypes, rising to 61.8% in children with JEB, Herlitz subtype and 48.2% in those with JEB, non-Herlitz subtype (JEB-nH) by age 15. In decreasing order, sepsis, failure to thrive, and respiratory failure were the major causes of death in children with JEB, plateauing by age 2 to 6. A small minority of children with epidermolysis bullosa simplex, Dowling-Meara subtype was at risk for death by age 1 (cumulative risk, 2.8%), with sepsis and respiratory failure accounting for cumulative risks of 1.9% and 0.9%. Only a minority of children with recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens subtype was at risk of death (cumulative risk = 8% by age 15). Renal failure also rarely accounted for death in children with JEB-nH. Infants and children with inherited EB, particularly those with JEB, are at significant risk of death as a result of disease complications.

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Gastrointestinal complications of inherited epidermolysis bullosa: cumulative experience of the National Epidermolysis Bullosa Registry.

Jo-David Fine, Chirayath Suchindran, Andrew M. Weiner … (2008)

Portions of the gastrointestinal (GI) tract may be severely involved in patients with inherited epidermolysis bullosa (EB). Evidence-based data are lacking as to the frequency and time of onset of these complications. Cross-sectional and longitudinal data were analyzed on 3,280 and 450 patients with EB, respectively, who were followed from 1986-2002 as part of the National EB Registry, an epidemiological study that attempted to identify, enroll, and collect data on every EB patient residing within the continental United States. Frequencies of abnormalities arising within the esophagus, stomach, small and large intestines, rectum, and anus were determined for each major EB subtype. Cumulative risks were similarly calculated for esophageal stenoses or strictures, and for severe growth retardation. Esophageal strictures and growth retardation were commonly seen among the more severe EB subtypes, most notably Hallopeau-Siemens recessive dystrophic EB, and occurred as early as within the first year of life. EB subtype-specific differences were also observed in the frequency of occurrence of other GI complications. A variety of GI complications arise in patients with inherited EB, varying across the major EB subtypes in their relative severity, frequency, and time of onset. Data generated by the National EB Registry should provide a sound basis whereby evidence-based strategies can be implemented for more effective surveillance and treatment of specific GI complications.

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Contributors

Christine Bodemer:

ORCID: http://orcid.org/0000-0001-8772-0905

ChristineBodemer@aphp.fr

Journal

Journal ID (nlm-ta): Orphanet J Rare Dis

Journal ID (iso-abbrev): Orphanet J Rare Dis

Title: Orphanet Journal of Rare Diseases

Publisher: BioMed Central (London )

ISSN (Electronic): 1750-1172

Publication date (Electronic): 6 June 2020

Publication date PMC-release: 6 June 2020

Publication date Collection: 2020

Volume: 15

Electronic Location Identifier: 142

Affiliations

[1 ]GRID grid.420545.2, St John’s Institute of Dermatology, , Guy’s and St Thomas’ NHS Foundation Trust, ; London, UK

[2 ]GRID grid.414125.7, ISNI 0000 0001 0727 6809, Dermatology Unit, , Bambino Gesù Children’s Hospital, ; IRCCS, Rome, Italy

[3 ]GRID grid.412134.1, ISNI 0000 0004 0593 9113, Dermatology Department, reference Centre MAGEC, Necker- Enfants Malades Hospital, , Paris-Centre University, ; Paris, France

[4 ]GRID grid.414125.7, ISNI 0000 0001 0727 6809, Genetics and Rare Diseases Research Division, , Bambino Gesù Children’s Hospital, ; IRCCS, Rome, Italy

[5 ]GRID grid.412554.3, ISNI 0000 0004 0609 2751, Dermatology Department, Children’s Hospital, , University Hospital Brno, ; Brno, Czech Republic

[6 ]GRID grid.412554.3, ISNI 0000 0004 0609 2751, Pediatric Ophthalmology Department, , Children’s Hospital, University Hospital Brno, ; Brno, Czech Republic

[7 ]GRID grid.8194.4, ISNI 0000 0000 9828 7548, Paediatric Dermatology Department, , Carol Davila University of Medicine and Pharmacy, ; Bucharest, Romania

[8 ]GRID grid.414125.7, ISNI 0000 0001 0727 6809, Endoscopy and Digestive Surgery Unit, , Bambino Gesù Children’s Hospital, ; IRCCS, Rome, Italy

[9 ]GRID grid.412134.1, ISNI 0000 0004 0593 9113, Department of Pain and Palliative Medicine, reference Centre MAGEC, Necker- Enfants Malades Hospital, , Paris-Centre University, ; Paris, France

[10 ]GRID grid.5963.9, Department of Dermatology, Medical Center, , University of Freiburg, Faculty of Medicine, University of Freiburg, ; Breisgau, Germany

[11 ]GRID grid.412134.1, ISNI 0000 0004 0593 9113, Service de Dermatologie, , Hôpital Necker Enfants Malades, ; 149 rue de Sèvres, 75015 Paris, France

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Christine Bodemer http://orcid.org/0000-0001-8772-0905

Article

Publisher ID: 1403

DOI: 10.1186/s13023-020-01403-x

PMC ID: 7276067

SO-VID: 9a606f76-d8d0-404e-a142-3b8fa68ee85a

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Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.

History

Date received : 8 February 2020

Date accepted : 7 May 2020

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ScienceOpen disciplines: Infectious disease & Microbiology

Keywords: epidermolysis bullosa,blister,esophageal obstruction,airway obstruction,corneal erosion,urinary retention,sepsis,pain,ern-skin

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ScienceOpen disciplines: Infectious disease & Microbiology

Keywords: epidermolysis bullosa, blister, esophageal obstruction, airway obstruction, corneal erosion, urinary retention, sepsis, pain, ern-skin

Emergency management in epidermolysis bullosa: consensus clinical recommendations from the European reference network for rare skin diseases

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Most cited references 29

Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa

Cause-specific risks of childhood death in inherited epidermolysis bullosa.

Gastrointestinal complications of inherited epidermolysis bullosa: cumulative experience of the National Epidermolysis Bullosa Registry.

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