Results 91 to 100 of about 168,874 (283)

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

Oral Diseases, EarlyView.
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

Prosthetic rehabilitation of an adolescent with hypohidrotic ectodermal dysplasia with partial anodontia: Case report

Journal of Indian Society of Pedodontics and Preventive Dentistry, 2008
Ectodermal dysplasia is a hereditary syndrome characterized by dysplasia of tissues of ectodermal origin (hair, skin, nails, and teeth) and occasionally, dysplasia of mesodermally derived tissues.
Kaul S, Reddy R
doaj  

Treatment with removable prosthesis in hypohidrotic ectodermal dysplasia : a clinical case [PDF]

, 2008
Ectodermal dysplasias form part of a wide range of syndromes presenting abnormal development of two or more tissues derived from the ectoderm. Hypohidrotic ectodermal dysplasia is a congenital syndrome, characterized by hypotrichosis (hair is sparse ...
Blanco-Moreno Alvarez-Buylla, Fernando, González García, Manuel, López-Arranz Monje, E., Martínez Fernández, Miguel, Pipa Vallejo, Adolfo   +4 more
core  

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis

Animal Genetics, Volume 57, Issue 1, February 2026.
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Stefan J. Rietmann, Joseph Malatos, Vidhya Jagannathan, Tosso Leeb   +3 more
wiley   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen, Eveliina Brandt, Kaisa Kettunen, Outi Elomaa, Sirpa Kivirikko, Leila Jeskanen, Katriina Lappalainen, Nelli Sjöblom, Juha Kere, Katariina Hannula‐Jouppi, Liisa Harjama   +10 more
wiley   +1 more source

Eight Mutations of Three Genes (EDA, EDAR, and WNT10A) Identified in Seven Hypohidrotic Ectodermal Dysplasia Patients

Genes, 2016
Hypohidrotic ectodermal dysplasia (HED) is characterized by abnormal development of the teeth, hair, and sweat glands. Ectodysplasin A (EDA), Ectodysplasin A receptor (EDAR), and EDAR-associated death domain (EDARADD) are candidate genes for HED, but the
B. Zeng, Xueshan Xiao, Sijie Li, Hui-ling Lu, Jia-xuan Lu, Ling Zhu, Dongsheng Yu, Wei Zhao   +7 more
semanticscholar   +1 more source

A dominant mutation etiologic for human tricho-dento-osseous syndrome impairs the ability of DLX3 to downregulate ΔNp63α. [PDF]

, 2011
The homeodomain transcription factors play crucial roles in many developmental processes ranging from organization of the body plan to differentiation of individual tissues.
Calabrò V., Di Costanzo A, Festa L, La Mantia G, Morasso M, Pollice A, Roscigno G, Vivo M   +7 more
core   +1 more source

A Rare Case of Esophageal Fordyce Spots (EFS) or Ectopic Esophageal Sebaceous Glands (EESG)

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Ectopic esophageal sebaceous glands are rare, benign lesions that may mimic more serious pathology. Recognition of this condition can prevent unnecessary interventions, guide management focused on symptom control, and provide reassurance to patients.
Shreya Bollu, Sugandha Bollu, Srikrishna Bollu, Amy Yeung, Elizabeth Eapen, Metin Taskin, Janardhan Bollu, Sita Chokhavatia   +7 more
wiley   +1 more source

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies [PDF]

, 2018
Objective: The aim of this study was the clinical and molecular characterization of a family segregating a trait consisting of a phenotype specifically involving the maxillary canines, including agenesis, impaction and ectopic eruption, characterized by ...
Barbato, Ersilia, Caputo, Viviana, Ciolfi, Andrea, Di Giorgio, Roberto, Genovesi, Maria Luce, Giovannetti, Agnese, Guarnieri, Rosanna, Magliozzi, Maria Rosa, Paolacci, Stefano, Pizzi, Simone, Pizzuti, Antonio, Tartaglia, Marco, Traversa, Alice   +12 more
core   +1 more source

Prevalence and Patterns of Permanent Tooth Agenesis in Patients With Crouzon or Apert Syndrome: A Systematic Review and Meta‐Analysis

Orthodontics &Craniofacial Research, Volume 29, Issue 1, Page 1-11, February 2026.
ABSTRACT Crouzon and Apert syndromes are rare syndromic craniosynostoses frequently associated with craniofacial and dental anomalies, including tooth agenesis. Although individual studies have reported tooth agenesis prevalence data in specific populations, no attempts have been made to systematically synthesise these data.
M. Cecilia Becerril Santos, Edwin M. Ongkosuwito, Alexandra K. Papadopoulou, Gregory S. Antonarakis   +3 more
wiley   +1 more source