Selected genodermatoses - Status quo and future prospects

J Dtsch Dermatol Ges. 2023 Apr;21(4):337-341. doi: 10.1111/ddg.15054. Epub 2023 Mar 28.

Abstract

Genodermatoses are monogenetic disorders, which may manifest with symptoms either exclusively on the skin or also involve other organs in the context of an associated syndrome. Over the past 30 years, numerous hereditary hair, tumor, blistering, and keratinization diseases have been characterized both clinically and genetically. This has resulted in the continuous development of disease-specific classifications as well as diagnostic algorithms and examination techniques, and has also led to new pathogenesis-based therapeutic approaches. While the deciphering of the underlying genetic defects of these diseases is already well advanced, there is still much room for the development of new translationally motivated treatment strategies.

Keywords: Basal cell carcinoma; epidermolysis bullosa; genodermatoses; hair disorders; keratinization disorders.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blister / pathology
  • Epidermolysis Bullosa* / genetics
  • Humans
  • Skin / pathology
  • Skin Neoplasms* / pathology