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Localized junctional epidermolysis bullosa, non-Herlitz type
Junctional epidermolysis bullosa, localized non-Herlitz-type is a form of non-Herlitz junctional epidermolysis bullosa (JEB-nH, see this term) characterized by localized blistering, and dystrophic or absent nails.
ORPHA:251393Classification level: Subtype of disorder
Prevalence is unknown. Fewer than 20 cases have been described.
Onset is at birth or soon thereafter. Skin blistering is mainly confined to hands, feet, lower legs and face. Additional findings comprise mild nail dystrophy, dental enamel hypoplasia, and an increased incidence of caries. Primary hair is normal, while axillary and pubic hair can be sparse.
Localized non-Herlitz junctional epidermolysis bullosa is caused by mutations in the type XVII collagen gene : COL17A1 (10q24.3).
The condition follows an autosomal recessive pattern of inheritance.
Prognosis is generally good.
- Summary information
- Russian (2012, pdf)
- Emergency guidelines
- Français (2012, pdf)
- Review article
- English (2010)
- Clinical genetics review
- English (2018)