Results 91 to 100 of about 78,340 (172)

A rare case of X-linked hypohidrotic ectodermal dysplasia with chorioretinal lesions by missense mutation in ectodysplasin A gene from Northeast India

Journal of Ophthalmic Research and Practice
Hypohidrotic ectodermal dysplasia (HED) is a rare genetic condition affecting 1–7 cases in 10,000 live births. It is the most common type of ectodermal dysplasia.
Nilutparna Deori, Madhusmita Mahapatra, Dipankar Das, Manjisa Choudhury   +3 more
semanticscholar   +1 more source

Intrafamilial Phenotypic Variability and Dental Management of Ectodermal Dysplasia in Three Siblings: A Case Report

Case Reports in Dentistry, Volume 2026, Issue 1, 2026.
Ectodermal dysplasia (ED) is a heterogeneous group of inherited disorders affecting ectoderm‐derived structures, with dental anomalies representing a major clinical concern. This case report describes three siblings from a Tunisian family presenting marked intrafamilial phenotypic variability of ED.
Farah Chouchene, Fatma Masmoudi, Ahlem Baaziz, Andrea Scribante   +3 more
wiley   +1 more source

Prosthodontic management of children with ectodermal dysplasia: A literature review

Saudi Dental Journal, 2019
Introduction: Ectodermal dysplasia (ED) is a large group of heterogeneous heritable conditions characterized by congenital defects of two or more ectodermal structures and their appendages.
Abdulaziz. A. Alowairdhi
doaj   +1 more source

Detection of an EDA mutation causing hypohidrotic ectodermal dysplasia in a Vietnamese patient

Vietnam Journal of Biotechnology
Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by abnormal development of the structures derived from the ectoderm layer, including hair, teeth, nails, and sweat glands.
N. Vu, La Duc Duy, Le Thi Thanh Huong, D. T. Nguyễn   +3 more
semanticscholar   +1 more source

Pediatric Dental Management of a Patient With Infantile Osteopetrosis in Remission: A Clinical Case Report

Case Reports in Dentistry, Volume 2026, Issue 1, 2026.
Background Osteopetrosis is a rare genetic disorder characterized by increased bone density due to defective osteoclast function. Its clinical presentation varies according to subtype, and oral manifestations are frequent, potentially serving as early indicators of the disease.
Maria Amalia Cruz-Morera, Katherine Molina-Chaves, Adrian Gomez-Fernandez, Hannah Wesley   +3 more
wiley   +1 more source

Keratoconus in hypohidrotic ectodermal dysplasia

The Pan-American Journal of Ophthalmology, 2019
The hypohidrotic ectodermal dysplasia (HED) is a rare genetic disease characterized by the absence or deficiency function of the ectodermal derivatives.
Carolina Peres Batalha, Marcelo Vicente Andrade Sobrinho, Gabriela Chaves Hoehr, Letícia Tavares Selegatto, Rafaela Bacco Amade   +4 more
doaj   +1 more source

Use of Janus Kinase Inhibitors in the Treatment of Genodermatoses: A Systematic Review

Dermatologic Therapy, Volume 2026, Issue 1, 2026.
Introduction Genodermatoses are rare inherited skin disorders with limited treatment options. Emerging evidence suggests Janus kinase (JAK) inhibitors may offer therapeutic benefits by modulating underlying immune and inflammatory pathways. This study aims to systematically review the efficacy and safety of JAK inhibitors in treating genodermatoses ...
Pin-Chun Chen, Chih-Chiang Chen, Sheng-Hsiang Ma, Tai-Li Chen, Suraiya Saleem   +4 more
wiley   +1 more source

Hypohidrotic ectodermal dysplasia: A case report

, 2008
Ectodermal dysplasias represent a large and complex group of diseases comprising more than 170 clinical conditions. They are caused by impaired development of the ectodermal appendages and characterized by a primary defect in at least one of the ...
Baskan, Zelal, Kiralp, Suha, Yavuz, Izzet   +2 more
core   +1 more source

The Roles of EDA2R in Ageing and Disease

Aging Cell, Volume 24, Issue 12, December 2025.
Elevated expression of the ectodysplasin A2 receptor (EDA2R) has been linked to ageing and disease. We appraise the roles of EDA2R in these processes, exploring mechanisms of action, biomarker potential and therapeutic relevance of EDA2R in multiple contexts. ABSTRACT Ageing is a complex biological process driven, in part, by inflammaging.
Gemma Farrington, Lauren Tonge, Tracy Branagan, Sud Sudirman, Chao Fang, Louis Luk, Serkan Kir, Marco Bolis, Ildus I. Ahmetov, Kehinde Ross   +9 more
wiley   +1 more source

Ocular Features in Ectrodactyly–ectodermal Dysplasia Sans–clefting Syndrome: A Rare Case Report

Delhi Journal of Ophthalmology
Ectrodactyly–ectodermal dysplasia–clefting syndrome is a rare autosomal dominant disorder with variable expression and penetrance and involves both ectodermal and mesodermal tissues.
Rekha R. Khandelwal, Deepa Ajitkumar, Sushil Pande   +2 more
doaj   +1 more source