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Localized dystrophic epidermolysis bullosa, pretibial form

Disease definition

A form of localized dystrophic epidermolysis bullosa characterized by the development of blisters, erosions, and lichenoid lesions predominantly in the anterior lower legs (pretibial areas and feet), the hands and nails. Individual lesions, which tend to be papular or plaque-like, are often violaceous. Pruritus is possible. Healing of blisters is associated with hypertrophic scarring and milia formation. Dystrophy of both fingernails and toenails is characteristic.

ORPHA:79410

Classification level: Subtype of disorder
  • Synonym(s):
    • DEB-Pt
    • Localized DEB, pretibial form
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.2
  • OMIM: 131850
  • UMLS: C0432321
  • MeSH: -
  • GARD: 2155
  • MedDRA: -

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