Results 131 to 140 of about 6,864 (183)

Hypohidrotic Ectodermal Dysplasia: A Multidisciplinary Approach

The International Journal of Psychiatry in Medicine, 2012
Hypohidrotic ectodermal dysplasia (HED; Christ-Siemens-Touraine syndrome) is a genetic disorder characterized by sparse hair, oligodontia with peg-shaped teeth, reduced sweating, and defects in a number of other ectodermal organs. A partial or complete absence of eccrine glands can lead to recurrent severe overheating that may cause seizures and ...
Bildik, Tezan, Ozbaran, Burcu, Kose, Sezen, Koturoglu, Guldane, Gokce, Bulent, Gunaydin, Asli, Altintas, Inci   +6 more
openaire   +4 more sources

Identification of six novel mutations in EDA from 20 hypohidrotic ectodermal dysplasia families.

Oral Diseases, 2023
OBJECTIVE To investigate the genetic causes of 22 patients with clinically high suspicion of X-linked hypohidrotic ectodermal dysplasia from 20 unrelated Chinese families, expand the spectrum of ectodysplasin-A mutations, and provide more evidence for ...
Qin Xing, Qimin Zhou, Hongyan Li, Zhongjie Wang, Shun Li, Jiayu Wu, Huimin Zhu, D. Liang, Zhuo Li, Lingqian Wu   +9 more
semanticscholar   +1 more source

Hypohidrotic Ectodermal Dysplasia Milia Treatment With Fractional Carbon Dioxide Laser and Laser-Assisted Drug Delivery of Triamcinolone.

Journal of Drugs in Dermatology, 2023
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by hypohidrosis, hypodontia, and hypotrichosis. Skin manifestations, including dyspigmentation and milia-like papules that coalesce into plaques, are difficult to treat. There is
Jessica Mineroff, J. Dowling, N. Golbari, Todd Wechter, J. Jagdeo   +4 more
semanticscholar   +1 more source

A novel deletion of exon 4 in the Ectodysplasin A gene associated with X-linked hypohidrotic ectodermal dysplasia.

Archives of Oral Biology, 2023
OBJECTIVE Identify the disease-causing mutation in a patient with features of X-linked hypohidrotic ectodermal dysplasia, which is a genetic disorder characterized by hypodontia, hypohidrosis and hypotrichosis.
K. Agiannitopoulos, K. Potska, Anna Douka, Iphigenia Gintoni, G. Tsaousis, E. Papadopoulou, G. Nasioulas, C. Yapijakis   +7 more
semanticscholar   +1 more source

A Novel Missense Mutation at EDA2R Gene Identified in a Case Study Associated with Hypohidrotic Ectodermal Dysplasia

Regenerative Medicine and Dentistry
Article A Novel Missense Mutation at EDA2R Gene Identified in a Case Study Associated with Hypohidrotic Ectodermal Dysplasia Wan Yang 1,†, Siyu Jin 1,†, Jie Jiang 1, Wei Ji 1,2,*,‡ and Qing He 1,*,‡ 1 State Key Laboratory of Oral & Maxillofacial ...
Wan Yang, S. Jin, Jie Jiang, W. Ji, Qing He   +4 more
semanticscholar   +1 more source

Interplay between EDA-EDAR and WNT signalling pathways in the development of skin appendages in hypohidrotic ectodermal dysplasia

Pediatria i Medycyna Rodzinna
Ectodermal dysplasia comprises a group of hereditary disorders affecting the development of the skin and its appendages. Among the more than 150 characterised forms of ectodermal dysplasia, hypohidrotic ectodermal dysplasia is the most prevalent in ...
A. Jakhar, Konrad Łukaszyk, Anna Pulawska-Czub, Krzysztof Kobielak   +3 more
semanticscholar   +1 more source

Different degree of loss‐of‐function among four missense mutations in the EDAR gene responsible for autosomal recessive hypohidrotic ectodermal dysplasia may be associated with the phenotypic severity

Journal of dermatology (Print), 2022
Hypohidrotic ectodermal dysplasia is a rare condition characterized by hypohidrosis, hypodontia, and hypotrichosis. The disease can show X‐linked recessive, autosomal dominant or autosomal recessive inheritance trait.
Sasagu Yagi, S. Yasuno, O. Ansai, R. Hayashi, Y. Shimomura   +4 more
semanticscholar   +1 more source

Hypohidrotic Ectodermal Dysplasia (HED)

2008
The ectodermal dysplasias (EDs) represent a complex and highly diverse group of congenital heritable disorders affecting tissues of ectodermal origin. The main characteristics of the group, which encompasses more than 170 conditions (Irvine 2006, OMIM 2006), consist in developmental abnormalities of two or more ectodermal appendages/ structures ...
RUGGIERI, MARTINO, PASCUAL CASTROVIEJO I.   +1 more
openaire   +2 more sources

Characterization of EDARADD gene mutations responsible for hypohidrotic ectodermal dysplasia

Journal of dermatology (Print), 2021
Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder characterized by hypohidrosis, hypodontia, and hypotrichosis. Autosomal forms of the disease are caused by mutations in either EDAR or EDARADD.
N. Asano, S. Yasuno, R. Hayashi, Y. Shimomura   +3 more
semanticscholar   +1 more source

Hypohidrotic ectodermal dysplasia in a family: expanding spectrum of LEF-1 related disorders.

Clincal and Experimental Dermatology
We report a novel heterozygous loss-of-function LEF1 variant in a 3-year-old girl and her mother, both diagnosed with hypohidrotic ectodermal dysplasia.
A. Hassan, F. Morice-Picard, V. Marin, Louis Lebreton, Julie Davaze-Schneider   +4 more
semanticscholar   +1 more source