Epidermolysis Bullosa, Inherited

Epidermolysis Bullosa, Inherited

Jessica M. Comstock, MD

This clinical photo of dystrophic epidermolysis bullosa shows blisters, erosions, and loss of toenails.

Low-power view of epidermolysis bullosa shows a subepidermal split image with an unremarkable underlying dermis.




  • Autosomal dominant or recessive

  • Basement membrane zone is composed of numerous specialized components that are defective in EB

    • Basal cell cytoskeleton

    • Anchoring filaments

    • Collagen fibrils

  • EB simplex

    • Mutations in keratin 5, keratin 14

  • Junctional EB

    • Mutations in laminin 5, integrin, type XVII collagen

  • Dystrophic EB

    • Mutations in type VII collagen gene


  • Autoimmune



  • Incidence

    • 50 per 1 million live births

      • 92% EB simplex

      • 5% junctional EB

      • 1% dystrophic EB

      • 2% unclassified

  • Gender

    • No predilection

  • Ethnicity

    • No predilection

Endoscopic Findings

  • Important to assess GI tract for blisters

EB Simplex

  • Generally mild, blisters heal without scarring

    • Mild to no internal involvement

  • Mostly autosomal dominant

  • Recessive forms tend to be more severe

  • Generalized type

    • Blisters at birth or early infancy

    • Mostly on hands and feet but may be anywhere

  • Localized type

    • Onset usually within first 2 years of life

    • Blisters confined to hands and feet

  • EB herpetiformis

    • Onset in 1st few months of life

    • Blisters may be hemorrhagic

    • Herpetic arrangement on face, trunk, extremities

    • Can have mucosal, nail involvement

  • EB simplex with muscular dystrophy

    • Defect in plectin

    • May also have tooth decay, urethral stricture, respiratory complications, alopecia

    • Muscular dystrophy may be late onset

      • Degree of blistering does not correlate with degree of muscular dystrophy

Jul 8, 2016 | Posted by in PATHOLOGY & LABORATORY MEDICINE | Comments Off on Epidermolysis Bullosa, Inherited

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