Search for a rare disease
Other search option(s)
Junctional epidermolysis bullosa inversa
Disease definition
Junctional epidermolysis bullosa inversa is a rare severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by blistering and erosions confined to intertriginous skin sites, the esophagus, and vagina.
ORPHA:79405
Summary
Epidemiology
Prevalence is unknown. Four Scandinavian families and a case in England have been reported.
Clinical description
The condition is present at birth. Blistering is usually severe and lesions subsequently localize to folds especially axillae, groins, and perineum. Manifestations include atrophic scarring, nail dystrophy and sometimes milia formation. Extracutaneous manifestations include enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.
Etiology
JEB inversa appears to be caused by mutations in the laminin-332 coding gene LAMC2 (1q25-q31).
Genetic counseling
The condition follows an autosomal recessive pattern of inheritance.
Detailed information
Article for general public
Professionals
- Summary information
- Russian (2012, pdf)
- Emergency guidelines
- Français (2012, pdf)
- Anesthesia guidelines
- English (2011, pdf)
- Review article
- English (2010)
- Clinical practice guidelines
- English (2014)
- Français (2015, pdf)
- Clinical genetics review
- English (2018)
- Disability factsheet
- Français (2013, pdf)
- Español (2018, pdf)
Additional information