Recent advances in understanding the molecular events underlying hypohidrotic ectodermal dysplasia (HED) caused by mutations of the genes encoding proteins of the tumor necrosis factor α (TNFα)-related signaling pathway have been presented. These proteins are involved in signal transduction from ectoderm to mesenchyme during development of the fetus and are indispensable for the differentiation of ectoderm-derived structures such as eccrine sweat glands, teeth, hair, skin, and/or nails. Novel data were reviewed and discussed on the structure and functions of the components of TNFα-related signaling pathway, the consequences of mutations of the genes encoding these proteins, and the prospect for further investigations, which might elucidate the origin of HED.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731439 | PMC |
| http://dx.doi.org/10.1007/s13353-015-0307-4 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
An Interesting Case of X-linked Hypohidrotic Ectodermal Dysplasia.
Cureus
October 2024
Department of Dermatology, Naval Medical Center San Diego, San Diego, USA.
We report a case of a patient with genetic sequencing-confirmed X-linked hypohidrotic ectodermal dysplasia without the typical characteristic hair growth abnormalities with the disorder. While this patient had already received guidance from a genetic counselor about his condition, many cases of ectodermal dysplasia go underdiagnosed or misdiagnosed due to mild or atypical presentations. With gene therapies emerging, the authors hope to highlight the importance of recognizing the disorder in patients who have not yet received a diagnosis to better manage their clinical course and guide future life decisions.
View Article and Find Full Text PDFHypohidrotic ectodermal dysplasia caused by an intragenic duplication in EDAR.
Eur J Med Genet
December 2024
Department of Clinical Genetics, Aarhus University Hospital, Olof Palmes Allé 49, 8200 Aarhus N, Denmark.
Hypohidrotic Ectodermal Dysplasia is a syndrome with hypotrichosis, hypohidrosis, and hypodontia as the main symptoms. The prevalence is estimated to one in 5000-10,000 persons. In 10-15% the disease is caused by pathogenic variants in EDAR, and most of the known causal variants to date are missense or nonsense variants.
View Article and Find Full Text PDF[Hypohidrotic ectodermal dysplasia with EDA gene variant in 2 children].
Zhonghua Er Ke Za Zhi
October 2024
Henan Key Laboratory of Children's Genetics and Metabolic Diseases, Henan Provincial Clinical Research Center for Pediatric Diseases, Henan Children's Neurodevelopmental Engineering Research Center, Children's Hospital Affiliated to Zhengzhou University, Zhengzhou 450018, China.
Masticatory function in growing individuals with hypohidrotic ectodermal dysplasia: A longitudinal study.
Int J Paediatr Dent
September 2024
Department of Pediatric Dentistry, Peking University School and Hospital of Stomatology & National Center for Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices, Beijing, China.
Article Synopsis
- Hypohidrotic ectodermal dysplasia (HED) is a genetic disorder leading to missing teeth and requires dentures for better chewing.
- A study examined masticatory function changes in 10 Chinese HED patients from childhood to adolescence, comparing them to healthy controls using electromyography (EMG) to measure muscle activity during chewing.
- Results showed that HED patients had lower muscle activity and masticatory efficiency, although their chewing function improved slightly with age, indicating they were still functionally inferior compared to individuals with normal dentition.
Facial Sebaceous Hyperplasia in an Adolescent With Hypohidrotic Ectodermal Dysplasia.
Pediatr Dermatol
September 2024
Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain.
Article Synopsis
- A 13-year-old boy was diagnosed with hypohidrotic ectodermal dysplasia (HED) linked to a genetic mutation in the ectodysplasin A (EDA) gene.
- He presented with small, white papules on his face, particularly around the nose, forehead, and cheeks.
- Histological analysis showed increased sebaceous lobules in the skin, and there's a suggestion that this might be related to a disruption in the Wnt/β-catenin signaling pathway due to the EDA issue.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!