Monogenic human skin disorders

Dermatology. 2014;229(2):55-64. doi: 10.1159/000362200. Epub 2014 Jul 8.


Human genodermatoses represent a broad and partly confusing spectrum of countless rare diseases with confluent and overlapping phenotypes often impeding a precise diagnosis in an affected individual. High-throughput sequencing techniques have expedited the identification of novel genes and have dramatically simplified the establishment of genetic diagnoses in such heterogeneous disorders. The precise genetic diagnosis of a skin disorder is crucial for the appropriate counselling of patients and their relatives regarding the course of the disease, prognosis and recurrence risks. Understanding the underlying pathophysiology is a prerequisite to understanding the disease and developing specific, targeted or individualized therapeutic approaches. We aimed to create a comprehensive overview of human genodermatoses and their respective genetic aetiology known to date. We hope this may represent a useful tool in guiding dermatologists towards genetic diagnoses, providing patients with individual knowledge on the respective disorder and applying novel research findings to clinical practice.

Publication types

  • Review

MeSH terms

  • Genetic Testing / methods*
  • Genotype
  • Humans
  • Phenotype
  • Skin Diseases, Genetic / diagnosis
  • Skin Diseases, Genetic / genetics*