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Epidermolysis bullosa simplex with mottled pigmentation

Disease definition

A rare, inherited, epidermolysis bullosa simplex characterized by neonatal or infantile onset of generalized blistering with mottled or reticulate brown pigmentation developing later. Blistering is often accompanied by mild nail dystrophy and focal palmoplantar keratoderma, and rarely by milia and mostly affects the limbs and trunk.

ORPHA:79397

Classification level: Disorder
  • Synonym(s):
    • EBS with mottled pigmentation
    • EBS-MP
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.0
  • OMIM: 131960
  • UMLS: C0432316
  • MeSH: C535959
  • GARD: 9737
  • MedDRA: -

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