Punctate palmoplantar keratoderma type I

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Disease Overview

Punctate palmoplantar keratoderma type I is a rare condition that affects the skin. It is a sub-type of punctate palmoplantar keratoderma.[2126][2127][2129] Signs and symptoms typically begin in early adolescence or later and include hard, round bumps of thickened skin on the palms of the hands and soles of the feet. These bumps can cause pain in some people.[2126][2127][2128][2129] The condition is usually inherited in an autosomal dominant manner and can be caused by a mutation in the AAGAB gene.[5618] Treatment options may include removal of the thickened skin by a doctor or using a cream on the affected area. Some people have used surgical approaches consisting of excision and skin grafting.[5619]


Synonyms

  • Brauer-Buschke-Fischer syndrome
  • Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type
  • Type I punctate palmoplantar keratoderma
  • Keratoderma, palmoplantar punctate type 1
  • Keratosis palmoplantaris papulosa
  • Punctate palmoplantar keratoderma type 1

For more information, visit GARD.

National Organization for Rare Disorders