Results 31 to 40 of about 1,200 (161)

X‐Linked Anhidrotic Ectodermal Dysplasia in A 19‐Year‐Old Male: A Classic Phenotype

Clinical Case Reports, Volume 14, Issue 5, May 2026.
ABSTRACT X‐linked anhidrotic/hypohidrotic ectodermal dysplasia (XLHED), also known as Christ‐Siemens‐Touraine syndrome, is a rare genetic disorder characterized by the abnormal development of ectodermal structures, primarily affecting sweat glands, hair, and teeth. It results from mutations in the Ectodysplasin A (EDA) gene.
Laxman Chapagain, Anumesh Dahal, Pooja Gupta, Prajwal Pudasaini, Upama Paudel   +4 more
wiley   +1 more source

Dental management of hypohidrotic ectodermal dysplasia: A report of two cases

Contemporary Clinical Dentistry, 2015
Ectodermal dysplasia (ED) represents a group of inherited conditions characterized by anomalies in two or more structures of ectodermal origin, which can be presented as problems related to hair, nail, teeth, sweat glands, and sebaceous glands.
Meenu Mittal, Dhirendra Srivastava, Ashok Kumar, Poonam Sharma   +3 more
doaj   +1 more source

Orofacial Features of Hypohidrotic Ectodermal Dysplasia [PDF]

Head and Neck Pathology, 2012
Hypohidrotic ectodermal dysplasia (HED) is a type of genodermatosis characterized by the abnormal development of sweat glands, teeth, and hair. The most prevalent form of HED is X-linked hypohidrotic ectodermal dysplasia (XLHED), which is associated with mutations in the EDA gene.
Sibele Nascimento, de Aquino, Lívia Maris Ribeiro, Paranaíba, Mário Sérgio Oliveira, Swerts, Daniella Reis Barbosa, Martelli, Letízia Monteiro, de Barros, Hercílio, Martelli Júnior   +5 more
openaire   +2 more sources

Plasma EDA2R and Risk of Cardiovascular Diseases and All‐Cause Mortality: Analysis of the UK Biobank Cohort

Clinical Cardiology, Volume 49, Issue 5, May 2026.
In this large‐scale UK Biobank analysis, elevated plasma EDA2R was associated with a 74% higher risk of cardiovascular disease and a 177% higher risk of all‐cause mortality, with a 7.2‐year loss in life expectancy in the highest EDA2R group, suggesting its potential as a prognostic biomarker and therapeutic target.
Ziqing Ruan, Jiabin Tu, Hongli Xu, Yupeng Zhi, Chun Chen, Kaiyang Lin, Yansong Guo   +6 more
wiley   +1 more source

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 623-635, May 2026.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear, Beltran Borges, Billie R. Lianoglou, Tony Lum, Emma Canepa, Jennifer L. Cohen, Julia E. H. Brown, Akos Herzeg   +7 more
wiley   +1 more source

Hereditary Ectodermal Dysplasia in Two Identical Siblings

Acta Medica Bulgarica
Primary defects in two or more ectodermally-derived tissues during embryonic development characterize ectodermal dysplasia, a vast, varied group of inherited illnesses. Skin, hair, nails, eccrine glands, and teeth are the primary tissues affected.
Sarkar A. S., Rao K., Ajila V.
doaj   +1 more source

A case report of hypohidrotic ectodermal dysplasia: A mini-review with latest updates

Journal of Family Medicine and Primary Care, 2018
Ectodermal dysplasia (ED) is a rare hereditary disorder involving two or more of the ectodermal structures, which include the skin, hair, nails, teeth, and sweat glands. The two most common forms of the disease are hypohidrotic/anhidrotic ED and hidrotic
Girish Gulab Meshram, Neeraj Kaur, Kanwaljeet Singh Hura   +2 more
doaj   +1 more source

Do you know this syndrome? Clouston syndrome [PDF]

Anais Brasileiros de Dermatologia, 2017
Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic.
Sarah Sanches, Priscila Regina Orso Rebellato, Andréa Buosi Fabre, Giovana Liz Marioto de Campos   +3 more
doaj   +2 more sources

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Periodontal Architecture in Ectodermal Dysplasia: An Observational Clinical and Histological Study

Oral Diseases, Volume 32, Issue 5, Page 1451-1459, May 2026.
ABSTRACT Objective To investigate gingival and periodontal characteristics in Ectodermal dysplasia (ED), focusing on soft‐tissue phenotype, anatomical variations, and periodontal architecture. Materials and Methods Observational clinical study of 11 individuals (16–30 years) with confirmed clinical or genetic ED diagnosis.
Marco Montevecchi, Margherita Giorgia Liguori, Ilaria Santini, Nicola Marco Sforza, Giulia Querzoli, Leoluca Valeriani   +5 more
wiley   +1 more source