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Inherited epidermolysis bullosa
Disease definition
Inherited epidermolysis bullosa (EB) encompasses a number of disorders characterized by recurrent blister formation as the result of structural fragility within the skin and selected other tissues.
ORPHA:79361
Classification level: Group of disorders- Synonym(s):
- Epidermolysis bullosa hereditaria
- Hereditary epidermolysis bullosa
- Prevalence: 1-9 / 1 000 000
- Inheritance: Autosomal dominant or Autosomal recessive
- Age of onset: All ages
- ICD-10: -
- OMIM: -
- UMLS: C1274224
- MeSH: -
- GARD: -
- MedDRA: -
Summary
Epidemiology
All types and subtypes of EB are rare; the overall incidence and prevalence of the disease in the United States are approximately 1/53,000 live births and 1/125,000, respectively, and similar estimates have been obtained in some European countries. EB affects individuals from all ethnic origins and there is no gender predilection.
Clinical description
Clinical manifestations range widely, from localized blistering of the hands and feet to generalized blistering of the skin and oral cavity, and injury to many internal organs. Four major types of inherited EB have been defined: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), each with numerous subtypes, and Kindler syndrome (see these terms). These forms differ not only phenotypically and genotypically but more importantly by the site of ultrastructural disruption or cleavage.
Etiology
Each EB subtype is known to arise from mutations within the genes coding for several different proteins, each of which is intimately involved in the maintenance of keratinocyte structural stability or adhesion of the keratinocyte to the underlying dermis.
Diagnostic methods
EB is best diagnosed and subclassified by the collective findings obtained via detailed personal and family history, in concert with the results of immunofluorescence antigenic mapping, transmission electron microscopy, and in some cases, by DNA analysis.
Differential diagnosis
Extensive differential diagnosis is not usually required in EB.
Antenatal diagnosis
Molecular prenatal diagnosis may be available if the disease-causing mutation in the family has been identified.
Genetic counseling
EB is inherited in either an autosomal dominant or autosomal recessive manner, depending on the EB type and subtype. Genetic counseling should be offered to affected families.
Management and treatment
Optimal patient management requires a multidisciplinary approach, and revolves around the protection of susceptible tissues against trauma, use of sophisticated wound care dressings, aggressive nutritional support, and early medical or surgical interventions to correct the extracutaneous complications, whenever possible.
Prognosis
Prognosis varies considerably and is based on both EB subtype and the overall health of the patient.
A summary on this disease is available in Italiano (2010) Deutsch (2011) Español (2011) Français (2011) Nederlands (2011) Português (2011) Polski (2011, pdf) Czech ()
Detailed information
General public
- Article for general public
- Français (2012, pdf) - Orphanet
- Svenska (2017) - Socialstyrelsen
Guidelines
- Emergency guidelines
- Italiano (2012, pdf) - Orphanet Urgences
- Français (2012, pdf) - Orphanet Urgences
- Clinical practice guidelines
- Français (2015) - PNDS
- English (2017, pdf) - Wounds International
- Español (2017, pdf) - Wounds International
- Anesthesia guidelines
- Czech (2020) - Orphananesthesia
- English (2020) - Orphananesthesia
Disease review articles
- Review article
- English (2010) - Orphanet J Rare Dis
Disability
- Disability factsheet
- Français (2013, pdf) - Orphanet
- Español (2018, pdf) - Orphanet
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
Additional information