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Epidermolysis bullosa simplex superficialis

Orpha number ORPHA89839
Synonym(s) EBSS
Prevalence Unknown
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q81.0
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 254181003

Summary

Epidermolysis bullosa simplex superficialis (EBSS) is a suprabasal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized or acral superficial erosions in the absence of blisters.

Prevalence is unknown but two families have been reported to date.

Onset of the disease is usually at birth or in early infancy. Erosions are usually associated with milia, atrophic scarring and dystrophic nails. Extracutaneous involvement (anemia) is rare.

The molecular etiology remains unclear and the causative gene is still unknown. A dominant missense mutation in the COL7A1 gene (3p21.3) encoding type VII collagen has been found in one of the two originally described families, which has thus been reclassified as affected by dominant dystrophic EB.

EBSS is inherited in an autosomal dominant manner.

Expert reviewer(s)

  • Dr Giovanna ZAMBRUNO

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Detailed information

Emergency guidelines
  • FR (2012,pdf)
Review article
  • EN (2010)
Article for general public
  • FR (2012,pdf)
Disability factsheet
  • FR (2013,pdf)
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