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Junctional epidermolysis bullosa inversa
Disease definition
A rare intermediate form of junctional epidermolysis bullosa characterized by congenital blistering and erosions confined to intertriginous skin sites, the esophagus, groin, and perineum. Blistering is usually severe and lesions may heal with atrophic scarring and milia formation. Extracutaneous manifestations include nail dystrophy, enamel hypoplasia and dental caries, oral, esophageal and vaginal blisters and erosions.
ORPHA:79405
Classification level: DisorderDetailed information
Article for general public
Professionals
- Summary information
- Russian (2012, pdf)
- Emergency guidelines
- Français (2012, pdf)
- Anesthesia guidelines
- Czech (2020)
- English (2020)
- Review article
- English (2010)
- Clinical practice guidelines
- Français (2015)
- English (2017, pdf)
- Español (2017, pdf)
- Clinical genetics review
- English (2018)
- Disability factsheet
- Français (2013, pdf)
- Español (2018, pdf)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
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.