Resumo
Definition
History and exam
Key diagnostic factors
- história familiar de epidermólise bolhosa (EB) positiva
- fragilidade mecânica da pele
- vesículas e erosões recorrentes
- feridas com cicatrização inadequada
- início de sinais cutâneos no nascimento ou na primeira infância
- resolução das vesículas nos primeiros 1 a 2 anos de vida
- distribuição generalizada ou localizada do envolvimento da pele
- combinação de milia, cicatrização e unhas distróficas
- ausência de milia, cicatrização e unhas distróficas
- tecido de granulação exuberante
- vesículas herpetiformes
- pseudossindactilia
- hipoplasia do esmalte
- hiperpigmentação reticulada
- distrofia muscular
- estenose ou estreitamento traqueolaríngeo
- doença grave das vias aéreas superiores
- início na segunda ou terceira infância
- distribuição inversa (intertriginosa), acral ou centrípeta do envolvimento da pele
- cardiomiopatia grave
Risk factors
- História familiar de EB
Diagnostic tests
1st tests to order
- mapeamento antigênico por imunofluorescência
- análise mutacional do ácido desoxirribonucleico (DNA)
- microscopia eletrônica de transmissão
Treatment algorithm
suspeita de estenose ou obstrução traqueolaríngea
suspeita de infecção sistêmica
epidermólise bolhosa simples (EBS), EB juncional (EBJ), EB distrófica (EBD), EB de Kindler
Contributors
Authors
Ajoy Bardhan, BSc, MBBS, MRCP
Clinical Lecturer in Dermatology
Honorary Consultant Dermatologist
Birmingham Medical School
University of Birmingham
University Hospitals Birmingham NHS Foundation Trust
Birmingham
UK
Disclosures
AB has previously given a sponsored lecture titled Skin Microbiome 101 at a 'Beauty of the Skin' Educational event sponsored by La Roche Posay, is an author of one or more references cited in this topic, and has also attended a non-promotional educational lecture programme funded by Amryt Pharmaceuticals
Acknowledgements
Dr Ajoy Bardhan would like to gratefully acknowledge Professor Jo-David Fine, the previous contributor to this topic.
Disclosures
JDF is an author of a number of references cited in this topic.
Peer reviewers
Helmut Hintner, MD
Professor and Chair
Department of Dermatology
Paracelsus Private Medical School
Salzburg
Austria
Disclosures
HH is an author of a reference cited in this topic.
Nanette Silverberg, MD
Clinical Professor of Dermatology
Columbia University College of Physicians and Surgeons
New York City
NY
Disclosures
NS declares that she has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Has C, Bauer JW, Bodemer C, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020 Oct;183(4):614-27.Full text Abstract
Fine JD, Bruckner-Tuderman L, Eady RA, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014 Jun;70(6):1103-26.Full text Abstract
Has C, Liu L, Bolling MC, et al. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol. 2020 Mar;182(3):574-92.Full text Abstract
Has C, El Hachem M, Bučková H, et al. Practical management of epidermolysis bullosa: consensus clinical position statement from the European Reference Network for rare skin diseases. J Eur Acad Dermatol Venereol. 2021 Dec;35(12):2349-60.Full text Abstract
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Hiperceratose epidermolítica (eritrodermia ictiosiforme bolhosa congênita)
- Porfirias congênitas
- Ausência de formação completa da pele (aplasia cutis)
More DifferentialsGuidelines
- Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
More Guidelines
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