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Late-onset junctional epidermolysis bullosa

Disease definition

A form of junctional epidermolysis bullosa characterized by onset in childhood or young adulthood of blistering that first occurs around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, and knees. Lesions heal with atrophic scarring. Other manifestations include disappearance of dermatoglyphs and palmoplantar hyperhidrosis. Extracutaneous involvement is restricted to soft tissue abnormalities of the oral cavity and enamel defects with development of caries.


Classification level: Disorder
  • Synonym(s):
    • Epidermolysis bullosa progressiva
    • JEB-lo
    • Late-onset JEB
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Childhood, Adult
  • ICD-10: Q81.8
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: 12921
  • MedDRA: -

Detailed information

Article for general public


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