Proceedings of the 11th International Dentistry Scientific Meeting (IDSM 2017)

Ectodermal Dysplasia

Authors
Vassa Khema Katthika, Elza Ibrahim Auerkari
Corresponding Author
Vassa Khema Katthika
Available Online May 2018.
DOI
https://doi.org/10.2991/idsm-17.2018.31How to use a DOI?
Keywords
ectodermal dysplasia, mutation, EDA gene, EDAR gene, EDARADD gene
Abstract
Primary defects in the development of two or more ectoderm-derived tissues are shared by a rare heterogeneous group of inherited disorders called ectodermal dysplasia (ED) syndrome. The affected tissues are primarily the hair, skin, teeth, sweat glands, and nails. The most common phenotype of ED is hypohidrotic ED (HED), which is characterized by hypohidrosis/anhidrosis, hypotrichosis, and hy-podontia/anodontia. Other clinical features of HED include frontal bossing with prominent supraorbital ridges, nasal bridge depression, and protuberant lips. There are three subtypes of HED: autosomal recessive, autosomal dominant, and X-linked. Mutations to four genes (EDA, EDAR, EDARADD, and WNT10A) are re-sponsible for most cases of ED. Besides gene mutations, epigenetics also influ-ences gene expression and activity in ED syndrome. DNA methylation and his-tone modification are vital to the epigenetic regulation of the development of fe-male carriers of the X-linked subtype of HED.
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Proceedings
11th International Dentistry Scientific Meeting (IDSM 2017)
Part of series
Advances in Health Sciences Research
Publication Date
May 2018
ISBN
978-94-6252-513-9
ISSN
2468-5739
DOI
https://doi.org/10.2991/idsm-17.2018.31How to use a DOI?
Open Access
This is an open access article distributed under the CC BY-NC license.

Cite this article

TY  - CONF
AU  - Vassa Khema Katthika
AU  - Elza Ibrahim Auerkari
PY  - 2018/05
DA  - 2018/05
TI  - Ectodermal Dysplasia
BT  - 11th International Dentistry Scientific Meeting (IDSM 2017)
PB  - Atlantis Press
SN  - 2468-5739
UR  - https://doi.org/10.2991/idsm-17.2018.31
DO  - https://doi.org/10.2991/idsm-17.2018.31
ID  - Katthika2018/05
ER  -