Histological features:

• Hyperkeratosis, papillomatosis, acanthosis
  
• Giant, coarse keratohyalin granules
• Vacuolization of the granular layer, resulting in cell lysis and subcorneal multiloculated blisters
• Occasionally, deeper granular cells become dense, enlarged, and irregular, and the shaped masses appear to be keratohyaline granules.

Copyright Mitsuhiro Sugiura, M.D.

Clinical features:

• Presents at or shortly after birth with blistering
• With time skin becomes keratotic, verrucous
• Shedding of hyperkeratotic masses results in circumscribed islands of normal-appearing skin
• Involvement of flexural areas
• Palmar and plantar involvement in the PS subtypes
• Secondary pyogenic infections
  

Mode of Inheritance:

• Autosomal Dominant
• Defect in the genes for keratin 1 and keratin 10
• Causes dysfunction of keratin intermediate filaments which weakens the structurals stability of the keratinocytes

Frequency:

• One case per 200,000-300,000 persons

Cases associated with this book:

1 yr old with hyperkeratotic lesions in the axilla and on thighs distributed along Blaschko lines
Author: Neal Kumar

clinical image

clinical image

Conference: Tufts First Year Medical Student's Dermatopathology Elective