Skip to main content
padlock icon - secure page this page is secure

A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes

Buy Article:

$69.00 + tax (Refund Policy)

Please cite this paper as: A review of genetic disorders of hypopigmentation: Lessons learned from the biology of melanocytes. Experimental Dermatology 2009; 18: 741–749. Abstract: 

Inherited diseases of pigmentation were among the first traits studied in humans because of their easy recognition. The discovery of genes that regulate melanocytic development and function and the identification of disease-causative mutations have greatly improved our understanding of the molecular basis of pigmentary genodermatoses and their underlying pathogenetic mechanisms. Pigmentation mutants can account for hypo-/amelanosis, with or without altered melanocyte number, resulting in different phenotypes, such as Waardenburg syndrome, piebaldism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, oculocutaneous albinism and Griscelli syndrome. In this review, we summarize the basic concepts of melanocyte biology and discuss how molecular defects in melanocyte development and function can result in the development of hypopigmentary hereditary skin diseases.
No References
No Citations
No Supplementary Data
No Article Media
No Metrics

Keywords: biology; genes; hereditary skin diseases; hypomelanoses; melanin; melanocyte; molecular defects

Document Type: Research Article

Publication date: September 1, 2009

  • Access Key
  • Free content
  • Partial Free content
  • New content
  • Open access content
  • Partial Open access content
  • Subscribed content
  • Partial Subscribed content
  • Free trial content
Cookie Policy
X
Cookie Policy
Ingenta Connect website makes use of cookies so as to keep track of data that you have filled in. I am Happy with this Find out more