Epidermolysis Bullosa Simplex (EBS)

Etiology

  • A family of mechano-bullous disorders
  • Mutation in protein that's part of intercellular cytoskeleton - such that shear forces applied to skin break up cells
  • Affects deeper aspects epidermal layer

Risk Factors

  • Family history

Symptoms

  • Recurrent blister formation at areas of skin subjected to force--> e.g. feet
  • Can present at birth, with blisters around head, shoulders, elsewhere--> sites of friction during delivery
  • Significant variation in severity, based on precise mutation and degree of structural weakening of cytoskeleton; also varies with level of activity of individual

Physical Exam Findings

  • Tense blisters at sites of friction
  • Erosions at sites where blisters have popped
  • Recur and no other explanation identified