Conditions / Skin

epidermolysis bullosa simplex

info · Skin · ICD-10: Q81.0

An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis

An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin.

Signs and symptoms

  • Abnormal blistering of the skin
  • Stratum basale cleavage
  • Dystrophic toenail
  • Abnormal dermoepidermal hemidesmosome morphology
  • Onychogryphosis
  • Ridged nail
  • Oral mucosal blisters
  • Atrophic scars
  • Nail dystrophy
  • Palmoplantar hyperkeratosis