- Vassa Khema Katthika, Elza Ibrahim Auerkari
- Corresponding Author
- Vassa Khema Katthika
Available Online May 2018.
- https://doi.org/10.2991/idsm-17.2018.31How to use a DOI?
- ectodermal dysplasia, mutation, EDA gene, EDAR gene, EDARADD gene
- 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.
- Open Access
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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 -