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Late-onset junctional epidermolysis bullosa
Late-onset junctional epidermolysis bullosa is a subtype of junctional epidermolysis bullosa (JEB, see this term) occurring in childhood or young adulthood.
ORPHA:79406Classification level: Disorder
- Epidermolysis bullosa progressiva
- 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: -
Prevalence is unknown. 22 patients in 12 families have been reported to date.
Blistering occurs at first around nails, accompanied by nail dystrophy and shedding, and then affects the hands and feet and, to a lesser extent, the elbows, knees, along 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.
COL17A1 mutations have recently been described in a family affected with JEB of late-onset.
The condition follows an autosomal recessive pattern of inheritance.
- Summary information
- Russian (2012, pdf)
- Emergency guidelines
- Français (2012, pdf)
- Anesthesia guidelines
- Czech (2011, pdf)
- Review article
- English (2010)
- Clinical genetics review
- English (2018)