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Localized junctional epidermolysis bullosa

Disease definition

A form of junctional epidermolysis bullosa characterized by neonatal onset of localized blistering, and dystrophic or absent nails. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings may include dental enamel hypoplasia and an increased incidence of caries.

ORPHA:251393

Classification level: Disorder
  • Synonym(s):
    • JEB-nH loc
    • Junctional epidermolysis bullosa, non-Herlitz localized type
    • Localized JEB
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.8
  • OMIM: 226650
  • UMLS: C0474889
  • MeSH: -
  • GARD: 12923
  • MedDRA: -

  A summary on this disease is available in Español (2021) Français (2021) Nederlands (2021) Português (2021) Deutsch (2012) Italiano (2012) Russian (2012, pdf)

Detailed information

General public

Guidelines

Disease review articles

Disability

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

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Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.