These two authors contributed equally to this article.
The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings
Article first published online: 27 JUN 2013
© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
Volume 84, Issue 4, pages 303–314, October 2013
How to Cite
The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings., , , , , , , .
All authors declare no conflict of interest.
- Issue published online: 11 SEP 2013
- Article first published online: 27 JUN 2013
- Accepted manuscript online: 26 APR 2013 09:59AM EST
- Manuscript Revised: 19 APR 2013
- Manuscript Accepted: 19 APR 2013
- Manuscript Received: 17 FEB 2013
- generalized lymphatic dysplasia;
Historically, primary lymphoedema was classified into just three categories depending on the age of onset of swelling; congenital, praecox and tarda. Developments in clinical phenotyping and identification of the genetic cause of some of these conditions have demonstrated that primary lymphoedema is highly heterogenous. In 2010, we introduced a new classification and diagnostic pathway as a clinical and research tool. This algorithm has been used to delineate specific primary lymphoedema phenotypes, facilitating the discovery of new causative genes. This article reviews the latest molecular findings and provides an updated version of the classification and diagnostic pathway based on this new knowledge.