Results 51 to 60 of about 1,792 (188)

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

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

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

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

Clinical 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, Hedayatullah Ehsan, Fatima Sapai, Mohammad Bashir Nejabi, Ahmad Anas Khairzad, Nematullah Sharifi   +5 more
wiley   +1 more source

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

Cell 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, Miao Yu, Hangbo Liu, Kai Sun, Chenxin Geng, Haochen Liu, Hailan Feng, Yang Liu, Hu Zhao, Dong Han   +9 more
wiley   +1 more source

Prosthodontic Rehabilitation Using Implant-supported Fixed Prostheses in a Young Adult with Ectodermal Dysplasia

King Khalid University Journal of Health Sciences
Ectodermal dysplasia is a rare hereditary disorder characterized by the abnormal development of ectodermal tissues. Hidrotic and hypohidrotic ectodermal dysplasia are the two most common types of the disease.
Lujain I. N. Aldosari
doaj   +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

Ectodermal dysplasia: A report of two cases

Journal of Craniomaxillofacial Research, 2017
Introduction: Ectodermal dysplasia (ED) is a group of syndromes and disorders in the human body characterized by structural anomalies in the ectoderm and often associated with hair, teeth and skin abnormalities.
Mozhgan Kazemian, Farnoosh Razmara, Nafiseh Ghadiri Moghadam   +2 more
doaj  

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

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