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Epidermólise bolhosa

  • Overview
  • Theory
  • Diagnosis
  • Management
  • Follow up
  • Resources
Последний просмотренный: 20 Aug 2025
Last updated: 26 Sep 2023

Резюме

Определение

Анамнез и осмотр

Ключевые диагностические факторы

  • 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
Полная информация

Факторы риска

  • História familiar de EB
Полная информация

Investigações diagnósticas

Primeiras investigações a serem solicitadas

  • mapeamento antigênico por imunofluorescência
  • análise mutacional do ácido desoxirribonucleico (DNA)
  • microscopia eletrônica de transmissão
Detalhes completos

Algoritmo de tratamento

AGUDA

suspeita de estenose ou obstrução traqueolaríngea

suspeita de infecção sistêmica

CONTÍNUA

epidermólise bolhosa simples (EBS), EB juncional (EBJ), EB distrófica (EBD), EB de Kindler

Colaboradores

Autores

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

Declarações

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

Agradecimentos

Dr Ajoy Bardhan would like to gratefully acknowledge Professor Jo-David Fine, the previous contributor to this topic.

Declarações

JDF is an author of a number of references cited in this topic.

Revisores

Helmut Hintner, MD

Professor and Chair

Department of Dermatology

Paracelsus Private Medical School

Salzburg

Austria

Declarações

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

Раскрытие информации

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.

Список литературы

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Основные статьи

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.Полный текст  Аннотация

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.Полный текст  Аннотация

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.Полный текст  Аннотация

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.Полный текст  Аннотация

Статьи, указанные как источники

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