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GTR Home > Conditions/Phenotypes > Epidermolysis bullosa, junctional 3B, severe

Summary

Severe junctional epidermolysis bullosa 3B (JEB3B) is an autosomal recessive skin blistering disorder characterized by extreme fragility of the skin and epithelia of various extracutaneous tissues. Skin blisters and erosions are present at birth. The plane of skin cleavage is through the lamina lucida of the cutaneous basement membrane zone. Patients die in infancy to early adulthood (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]

Available tests

3 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: B2T, BM600, CSF, EBR2, EBR2A, JEB3A, JEB3B, LAMB2T, LAMNB2, LAMC2
    Summary: laminin subunit gamma 2

Clinical features

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