Coexistence of keloids and pilomatricoma in a patient with Rubinstein-Taybi syndrome

Dermatol Online J. 2018 Jan 15;24(1):13030/qt4rq2k5fr.

Abstract

Rubinstein-Taybi syndrome (RTS) is an autosomaldominant hereditary disease, which contains many skeletal and organ anomalies as well as mental retardation. Although high incidence of keloids in RTS is known, it is difficult to find a detailed report on the clinical features of keloids. In the following letter, we report an RTS patient fulfilling diagnostic criteria whosuffered from both keloids and pilomatricoma. We also performed a literature search, which identified the possible involvement of the Wnt/β-catenin signaling pathway in the pathogenesis of these two skin lesions.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adult
  • Cyclic AMP Response Element-Binding Protein / genetics
  • Cyclic AMP Response Element-Binding Protein / metabolism
  • Humans
  • Keloid / genetics*
  • Keloid / pathology
  • Male
  • Pilomatrixoma / genetics*
  • Rubinstein-Taybi Syndrome* / genetics
  • Signal Transduction
  • Wnt Proteins / metabolism
  • beta Catenin / metabolism

Substances

  • Cyclic AMP Response Element-Binding Protein
  • Wnt Proteins
  • beta Catenin