Towards a unified classification of the ectodermal dysplasias: opportunities outweigh challenges.

Hdl Handle:
http://hdl.handle.net/10147/207396
Title:
Towards a unified classification of the ectodermal dysplasias: opportunities outweigh challenges.
Authors:
Irvine, Alan D
Affiliation:
Department of Clinical Medicine, Trinity College Dublin, Our Lady's Children's, Hospital Crumlin, Dublin 12, Ireland. irvinea@tcd.ie
Citation:
Am J Med Genet A. 2009 Sep;149A(9):1970-2.
Journal:
American journal of medical genetics. Part A
Issue Date:
1-Feb-2012
URI:
http://hdl.handle.net/10147/207396
DOI:
10.1002/ajmg.a.32852
PubMed ID:
19681131
Abstract:
The ectodermal dysplasias include a complex and highly diverse group of heritable disorders that share in common developmental abnormalities of ectodermal derivatives. The broader definition of ectodermal dysplasias (as heritable disorders involving at least two of the ectodermal derivatives nails, teeth, hair, and eccrine sweat glands) encompasses 170-200 conditions. Some conditions included by this definition are relatively common; others are rare and, in some cases, family-specific. Classification of the ectodermal dysplasias has largely been approached by categorizing patterns of clinical findings (phenotypic grouping). In the last 2 decades great progress has been made in understanding the molecular pathogenesis and inter-relatedness of some of these conditions and a new consensus approach to classification that incorporates this new information is needed. A comprehensive and definitive classification of these disorders would be highly valuable for the many stakeholders in ED. As disease-specific molecular treatments are developed, accurate classification will assume greater importance in designing registries to enable rapid identification of those with rare disorders who may wish to participate in clinical trials. Ideally a working classification of such a disparate collection of conditions would have a design and architecture that would facilitate easy accessibility by each of the key stakeholder groups and would encourage enhanced interaction between these parties. Attaining this objective is a major challenge but is achievable. This article reviews the historical-clinical perspective and the impact of recent developments in molecular biology in the field. Reflections are offered as to the future direction of classification systems in these disorders.
Language:
eng
MeSH:
Adult; Child; Child, Preschool; Ectodermal Dysplasia/*classification/diagnosis/genetics/pathology; Genotype; Humans; Phenotype
ISSN:
1552-4833 (Electronic); 1552-4825 (Linking)

Full metadata record

DC FieldValue Language
dc.contributor.authorIrvine, Alan Den_GB
dc.date.accessioned2012-02-01T10:23:56Z-
dc.date.available2012-02-01T10:23:56Z-
dc.date.issued2012-02-01T10:23:56Z-
dc.identifier.citationAm J Med Genet A. 2009 Sep;149A(9):1970-2.en_GB
dc.identifier.issn1552-4833 (Electronic)en_GB
dc.identifier.issn1552-4825 (Linking)en_GB
dc.identifier.pmid19681131en_GB
dc.identifier.doi10.1002/ajmg.a.32852en_GB
dc.identifier.urihttp://hdl.handle.net/10147/207396-
dc.description.abstractThe ectodermal dysplasias include a complex and highly diverse group of heritable disorders that share in common developmental abnormalities of ectodermal derivatives. The broader definition of ectodermal dysplasias (as heritable disorders involving at least two of the ectodermal derivatives nails, teeth, hair, and eccrine sweat glands) encompasses 170-200 conditions. Some conditions included by this definition are relatively common; others are rare and, in some cases, family-specific. Classification of the ectodermal dysplasias has largely been approached by categorizing patterns of clinical findings (phenotypic grouping). In the last 2 decades great progress has been made in understanding the molecular pathogenesis and inter-relatedness of some of these conditions and a new consensus approach to classification that incorporates this new information is needed. A comprehensive and definitive classification of these disorders would be highly valuable for the many stakeholders in ED. As disease-specific molecular treatments are developed, accurate classification will assume greater importance in designing registries to enable rapid identification of those with rare disorders who may wish to participate in clinical trials. Ideally a working classification of such a disparate collection of conditions would have a design and architecture that would facilitate easy accessibility by each of the key stakeholder groups and would encourage enhanced interaction between these parties. Attaining this objective is a major challenge but is achievable. This article reviews the historical-clinical perspective and the impact of recent developments in molecular biology in the field. Reflections are offered as to the future direction of classification systems in these disorders.en_GB
dc.language.isoengen_GB
dc.subject.meshAdulten_GB
dc.subject.meshChilden_GB
dc.subject.meshChild, Preschoolen_GB
dc.subject.meshEctodermal Dysplasia/*classification/diagnosis/genetics/pathologyen_GB
dc.subject.meshGenotypeen_GB
dc.subject.meshHumansen_GB
dc.subject.meshPhenotypeen_GB
dc.titleTowards a unified classification of the ectodermal dysplasias: opportunities outweigh challenges.en_GB
dc.contributor.departmentDepartment of Clinical Medicine, Trinity College Dublin, Our Lady's Children's, Hospital Crumlin, Dublin 12, Ireland. irvinea@tcd.ieen_GB
dc.identifier.journalAmerican journal of medical genetics. Part Aen_GB
dc.description.provinceLeinster-

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