Approach towards a new classification for ectodermal dysplasias: Integration of the clinical and molecular knowledge

✍ Scribed by John J. DiGiovanna; Manuela Priolo; Peter Itin

• Publisher: John Wiley and Sons
• Year: 2009
• Tongue: English
• Weight: 114 KB
• Volume: 149A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.32961

✦ Synopsis

Abstract

Rapid advances in new basic knowledge have led to a greater understanding of the genetic, embryologic, molecular biologic, and functional mechanisms underlying the ectodermal dysplasias. Scientists, researchers, and clinicians from diverse fields desire a classification that meets the needs of these rapidly changing concepts which, in addition to being clinically useful, can help further advances in understanding the basic underlying mechanisms, and can also spur the development of new therapies. The currently used classification was designed for clinical utility and has not easily integrated with the new concepts. Various users have suggested that a new classification should be based on underlying genetic and molecular abnormality, functional mechanism, embryology, or clinical features. The goal of this conference was to advance towards a consensus and this manuscript is a summary of a workshop focused on an approach towards the development of a classification that integrates the clinical and molecular knowledge. © 2009 Wiley‐Liss, Inc.