Intermediate junctional epidermolysis bullosa 5A (JEB5A) is an autosomal recessive blistering disease of skin and mucous membranes. Blistering is less severe than in severe JEB (see 226700). The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Nails may be dystrophic and dental enamel defects are present. Blistering does not affect the life span of affected individuals (summary by Has et al., 2020).
For a discussion of genetic heterogeneity of the subtypes of JEB, see JEB1A (226650).
Reviews
Has et al. (2020) reviewed the clinical and genetic aspects, genotype-phenotype correlations, disease-modifying factors, and natural history of epidermolysis bullosa. [from
OMIM]