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Generalized epidermolysis bullosa simplex, non-Dowling-Meara type

Orpha number ORPHA79399
Synonym(s) Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Köbner type
Generalized EBS, non-Dowling-Meara type
Prevalence Unknown
Inheritance
  • Sporadic
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q81.0
OMIM
UMLS
  • C0079299
MeSH
  • C535961
MedDRA -
SNOMED CT
  • 90496008

Summary

Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.

Worldwide prevalence is unknown but in Scotland reported overall prevalence of non-Dowling-Meara generalized EBS and localized EBS is 1/35,000.

Onset of the disease is usually at birth. Blistering tendency usually worsens in summertime (or in warm weather). The frequency of milia, mild atrophic scarring, focal plantar hyperkeratosis and nail dystrophy is intermediate between that of localized EBS and EBS-DM (see these terms), and extracutaneous findings, other than occasional intraoral blistering, are rare. Given the considerable overlap between non-Dowling-Meara EBS and localized EBS within some kindreds, some experts prefer to group both subtypes together.

Non-Dowling-Meara EBS is caused by dominant negative mutations within either the KRT5 (12q13.13) or KRT14 (17q12-q21) genes, encoding keratin 5 and keratin 14, respectively.

Transmission is autosomal dominant and sporadic cases are frequent.

Although the disease can be severely disabling, life-expectancy is normal.

Expert reviewer(s)

  • Dr Giovanna ZAMBRUNO

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Detailed information

Emergency guidelines
  • FR (2012,pdf)
Article for general public
  • FR (2012,pdf)
Clinical genetics review
  • EN (2011)
Disability factsheet
  • FR (2013,pdf)
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