How to cite this article: Visinoni ÁF, Lisboa-Costa T, Pagnan NAB, Chautard-Freire-Maia EA. 2009. Ectodermal dysplasias: Clinical and molecular review. Am J Med Genet Part A 149A:1980–2002.
Ectodermal dysplasias: Clinical and molecular review†
Article first published online: 13 AUG 2009
Copyright © 2009 Wiley-Liss, Inc.
American Journal of Medical Genetics Part A
Special Issue: Ankyloblepharon-Ectodermal Defects-Cleft Lip and/or Palate Syndrome and Ectodermal Dysplasias
Volume 149A, Issue 9, pages 1980–2002, September 2009
How to Cite
Visinoni, Á. F., Lisboa-Costa, T., Pagnan, N. A.B. and Chautard-Freire-Maia, E. A. (2009), Ectodermal dysplasias: Clinical and molecular review. Am. J. Med. Genet., 149A: 1980–2002. doi: 10.1002/ajmg.a.32864
- Issue published online: 20 AUG 2009
- Article first published online: 13 AUG 2009
- Manuscript Accepted: 9 MAR 2009
- Manuscript Received: 18 NOV 2008
- ectodermal dysplasias;
- ectodermal appendage alterations
Ectodermal dysplasias (EDs) as defined by Freire-Maia [Freire-Maia (1971); Hum Hered 21: 309–312; Freire-Maia (1977); Acta Genet Med Gemellol 26: 121–131] are congenital disorders characterized by alterations in two or more ectodermal structures, at least one of these involving alterations in hair, teeth, nails, or sweat glands. Suggestions for a new definition and, consequently, for a new classification of EDs have being proposed lately, mainly with the purpose of connecting clinical knowledge with recent discoveries of gene mutations responsible for about 30% of EDs. The aim of this review was to update the clinical classification of EDs with recent molecular (64 genes and 3 chromosome regions) and clinical data, mainly of EDs of the A group (N = 186), in order to contribute information for the evaluation of the ED definition proposed by Freire-Maia. Our conclusion is that the combination of both procedures—clinical and molecular—only brings advantages for a deeper knowledge of EDs. First, it allows a rapid diagnosis that may become even more precise whenever DNA exams are available. Secondly, the comprehension of the biological mechanisms that cause EDs is needed for the design of efficient prevention and treatment approaches. © 2009 Wiley-Liss, Inc.