Epidermolysis Bullosa

Epidemiology:

• At or soon after birth

Common sites:

• sites of pressure, rubbing, or trauma

Gross features:

• bullae

Histologic features:

• simplex type:
• degeneration of basal cell layer
• junctional type:
• subepidermal blistering at the level of the lamina lucida
• dystrophic types:
• subepidermal blistering beneath the lamina densa

Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

• simplex type:
• mutations in genes encoding keratins 14 and 5
• dystrophic type:
• inherited – mutation sin the COL 7A1 gene encoding type VII collagen

Other features:

• EM – may be required to tell the types apart
• group of disorders

References:

• Robbins 2005