Punctate Palmoplantar Keratoderma, Buschke– Fischer–Brauer type

  • Alpha and gamma adaptin-binding protein p34 and collagen type XIV α1 chain gene mutation
  • Reported Collagen type XIV alpha 1 chain gene mutations
  • Autosomal dominant inheritance
  • Palmar crease involvement more common among patients of African lineage

  • Altered intracellular transport of clathrin vesicles and processing of receptor tyrosine kinases
  • Downstream increase in cell proliferation

  • Small palmoplantar, potentially painful keratotic papules with central keratotic core, appearing in adolescence
  • Unclear association with breast and colon carcinomas

Pathology: 

  • Epidermal depression, compact orthohyperkeratosis, hypogranulosis, parakeratosis, lengthened rete ridges

Differential:

  • Verrucae
  • Punctate porokeratosis
  • Darier disease
  • Cowden syndrome
  • Arsenic / dioxin exposure

  • Appropriate footwear
  • Mechanical removal
  • Oral retinoids
  • Future considerations: receptor tyrosine kinase inhibitors
  • Topical retinoids and keratolytics are not useful