Summary
Definition
História e exame físico
Principais fatores diagnósticos
- positive family history of epidermolysis bullosa (EB)
- mechanical fragility of the skin
- recurrent blisters and erosions
- poorly healing wounds
- onset of cutaneous signs at birth or early infancy
- resolution of blistering within the first 1-2 years of life
- generalized or localized distribution of skin involvement
- combination of milia, scarring, and dystrophic nails
- absence of milia, scarring, and dystrophic nails
- exuberant granulation tissue
- herpetiform blistering
- pseudosyndactyly
- enamel hypoplasia
- reticulate hyperpigmentation
- muscular dystrophy
- tracheolaryngeal stenosis or stricture
- severe upper airway disease
- onset in mid or late childhood
- inverse (intertriginous), acral, or centripetal distribution of skin involvement
- severe cardiomyopathy
Fatores de risco
- Family history of EB
Investigações diagnósticas
Primeiras investigações a serem solicitadas
- immunofluorescence antigenic mapping
- DNA mutational analysis
- transmission electron microscopy
Algoritmo de tratamento
suspected tracheolaryngeal stenosis, stricture, or obstruction
suspected systemic infection
EBS, JEB, DEB, Kindler EB
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 program 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
Declarações
NS declares that she has no competing interests.
Diagnósticos diferenciais
- Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma)
- Congenital porphyrias
- Cutaneous absence of skin (aplasia cutis)
Mais Diagnósticos diferenciaisDiretrizes
- Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility
Mais Diretrizes
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