Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

Alternate names

Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders

Summary

Late-onset localized jonctional epidermolysis bullosa-intellectual disability syndrome is a rare junctional epidermolysis bullosa subtype characterized by late-onset blistering surrounded by erythema and localized on the anterior aspect of the lower legs, associated with dystrophic toenails, tooth enamel defects and mild to severe intellectual disability. Lens subluxation and mild facial dysmorphism (with short midface, prognatism and thin upper lip vermilion) are additional reported features. There have been no further descriptions in the literature since 1992.

NIH genetic and rare disease info

• NIH info on Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome is a rare disease.

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