Results 61 to 70 of about 6,864 (183)

Ectodermal dysplasia: Report of two cases in a family and literature review

open access: yesJournal of Family Medicine and Primary Care, 2019
Ectodermal dysplasia (ED) is a inherited genetic disorder with manifestations of abnormalities in more than one ectodermal derivatives like skin, hair, nails, exocrine glands and teeth.
Vani Chappidi   +3 more
doaj   +1 more source

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

open access: yesClinical 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   +6 more
wiley   +1 more source

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

open access: yesContemporary 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   +3 more
doaj   +1 more source

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

open access: yesPregnancy, 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   +5 more
wiley   +1 more source

Early Oral Rehabilitation of a Pediatric Patient With Hypohidrotic Ectodermal Dysplasia: A Case Report from Afghanistan

open access: yesClinical Case Reports, Volume 14, Issue 4, April 2026.
ABSTRACT Hypohidrotic ectodermal dysplasia (HED) is a rare congenital disorder characterized by abnormal development of ectodermal structures including hair, teeth, nails, and sweat glands. Dental manifestations such as anodontia or hypodontia can significantly impair mastication, speech development, facial esthetics, and psychosocial well‐being ...
Nazera Ahmadzai   +5 more
wiley   +1 more source

Hereditary Ectodermal Dysplasia in Two Identical Siblings

open access: yesActa 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

Hypohidrotic Ectodermal Dysplasia: a rare inherited multisystem disorder

open access: yesIndian journal of experimental biology, 2022
Hypohidrotic ectodermal dysplasia (HED), also known as Christ-Siemens-Touraine syndrome, is a rare X-linked genetic disorder characterized by the faulty development of the ectodermal structures, resulting in most notably anhydrosis/ hypohidrosis ...
R. Srinithi, R. Ramya, S. Sundari
semanticscholar   +1 more source

Kdf1 Regulates Molar Cusp Morphogenesis via the PI3K/AKT/mTOR Signalling Axis

open access: yesCell Proliferation, Volume 59, Issue 3, March 2026.
Epithelial Kdf1 knockout disrupts molar cusp morphogenesis by promoting inner enamel epithelium proliferation and invagination via PI3K/AKT/mTOR signalling. ABSTRACT Keratinocyte differentiation factor 1 (Kdf1) reportedly plays a significant role in enamel formation.
Jiayu Wang   +9 more
wiley   +1 more source

Orofacial Features of Hypohidrotic Ectodermal Dysplasia [PDF]

open access: yesHead 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   +5 more
openaire   +2 more sources

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

open access: yesJournal 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   +2 more
doaj   +1 more source

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