"...Rewritten in the skin": clues to skin biology and aging from inherited disease

J Invest Dermatol. 2015 Jun;135(6):1484-1490. doi: 10.1038/jid.2015.88. Epub 2015 Mar 26.

Abstract

The growing diversity of heritable skin diseases, a practical challenge to clinicians and dermato-nosologists alike, has nonetheless served as a rich source of insight into skin biology and disease mechanisms. I summarize below some key insights from the recent gene-driven phase of research on Werner syndrome, a heritable adult progeroid syndrome with prominent dermatologic features, constitutional genomic instability, and an elevated risk of cancer. I also indicate how new insights into skin biology, disease, and aging may come from unexpected sources.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Aging*
  • Animals
  • Bloom Syndrome / genetics
  • Dermatology / methods
  • Disease Progression
  • Family Health
  • Genetic Diseases, Inborn / genetics*
  • Genome
  • Genomic Instability
  • Humans
  • Mice
  • Phenotype
  • RecQ Helicases / metabolism
  • Risk Factors
  • Skin Physiological Phenomena
  • Syndrome
  • Werner Syndrome / genetics*

Substances

  • RecQ Helicases