Itin, Peter H

Head & Face Medicine

English

PubMed

Peter H Itin

Springer - Publisher Connector

Dermatologic aspects of ectodermal dysplasias

INVITED SPEAKER PRESENTATION Open Access
Dermatologic aspects of ectodermal dysplasias
Peter H Itin
From 5th International Conference on Ectodermal Dysplasia (ED2012)
Erlangen, Germany. 1-3 June 2012
Ectodermal dysplasias are a large group of heteroge-
neous heritable conditions characterized by congenital
defects of ectodermal structures and their appendages:
hair (hypotrichosis, partial or total alopecia), nails (dys-
trophic, hypertrophic, abnormally keratinized), teeth
(enamel defect or absent) and sweat glands (hypoplastic
or aplastic). The ectodermal dysplasias, as a rule, are not
pure “one-layer diseases”. Mesodermal and occasionally
endodermal dysplasias may coexist. Embryogenesis
occurs in distinct tissue fields and specific interactions
among the germ layers that may lead to a wide range of
ectodermal dysplasias exist when genes important for
development are mutated or otherwise altered in expres-
sion. Of the approximately 200 different ectodermal dys-
plasias, about 50 have been characterized at the
molecular level with identification of the causative gene.
Modern molecular genetics will increasingly elucidate
the basic defects of the different syndromes and yield
more insight into the regulatory mechanisms of
embryogenesis.
This lecture focuses on the fact that with molecular
diagnosis it is possible to diagnose oligosymptomatic
forms of ectodermal dysplasia. These are much more
common than earlier anticipated. Cutaneous key fea-
tures which give hints for the presence of some type of
ectodermal dysplasia will be presented.
Published: 25 May 2012
doi:10.1186/1746-160X-8-S1-I4
Cite this article as: Itin: Dermatologic aspects of ectodermal dysplasias.
Head & Face Medicine 2012 8(Suppl 1):I4.
Submit your next manuscript to BioMed Central
and take full advantage of: 
• Convenient online submission
• Thorough peer review
• No space constraints or color figure charges
• Immediate publication on acceptance
• Inclusion in PubMed, CAS, Scopus and Google Scholar
• Research which is freely available for redistribution
Submit your manuscript at 
www.biomedcentral.com/submit
Department of Dermatology, University of Basel, Switzerland
Itin Head & Face Medicine 2012, 8(Suppl 1):I4
http://www.head-face-med.com/content/8/S1/I4
HEAD & FACE MEDICINE
© 2012 Itin; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons
Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in
any medium, provided the original work is properly cited.


Crossref

file:///data/core-remote/dit/data/Springer-OA/pdf/837/aHR0cDovL2xpbmsuc3ByaW5nZXIuY29tLzEwLjExODYvMTc0Ni0xNjBYLTgtUzEtSTQucGRm.pdf

Dermatologic aspects of ectodermal dysplasias

Abstract

Similar works

Full text

Available Versions

Springer - Publisher Connector

Springer - Publisher Connector

Crossref