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Epidermolysis bullosa simplex with anodontia/hypodontia

Disease definition

A rare epidermolysis bullosa simplex characterized by the association of the typical trauma-induced blisters with additional features including hearing impairment, alopecia, hypo- or anodontia, and nail dystrophy. Occurrence of vitiliginous skin areas unrelated to the sites of the blisters has also been described.

ORPHA:2325

Classification level: Disorder
  • Synonym(s):
    • EBS with anodontia/hypodontia
    • Kallin syndrome
  • Prevalence: -
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q81.0
  • OMIM: -
  • UMLS: C0432313
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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