Results 1 to 10 of about 418 (103)

Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation [PDF]

Case Reports in Dermatological Medicine, 2023
Ectodermal dysplasias (ED) encompass a collection of conditions wherein the development of two or more structures derived from the ectoderm exhibits abnormal patterns.
Rand Murshidi, Heba Al-lala
doaj   +3 more sources

Palmoplantar keratoderma: An unusual manifestation of hypohydrotic ectodermic dysplasia [PDF]

Clinical Case Reports, 2022
Rapp–Hodgkin syndrome (RHS) is a rare condition that is characterized by ectodermal dysplasia and palatal abnormalities. Palmoplantar keratoderma (PPK) is an unusual manifestation of hidrotic ED. Ulcerations on the palms are also not common in RHS.
Wissal Abdelli, Asmahen Souissi, Fatima Alaoui, Wiem Sassi, Ines Chelly, Slim Haouat, Mourad Mokni   +6 more
doaj   +3 more sources

A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene [PDF]

Molecular Genetics & Genomic Medicine
GJB2 and GJB6 variants, encoding Cx26 and Cx30 respectively, are the most frequently involved genes commonly contributing to hereditary hearing loss either isolated or in combination with skin abnormalities.
Badreddine Elmakhzen, Paul Rollier, Clémence Saillard, Benoit Godey, Cédric Le Marechal, Paul Gueguen, Isabelle Fajardy, Sylvie Odent, Laurent Pasquier   +8 more
doaj   +3 more sources

A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia [PDF]

Hereditas, 2020
Hidrotic ectodermal dysplasia (HED) is a rare inherited syndrome characterised by nail dystrophy, palmoplantar hyperkeratosis and alopecia. Four mutations (p.G11R, p.A88V, p.V37E and p.D50N) in gap junction beta 6 (GJB6) gene, which codes connexin30 ...
Yi Zhan, Shuaihantian Luo, Zixin Pi, Guiying Zhang   +3 more
doaj   +2 more sources

GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family. [PDF]

Int J Dermatol, 2019
International Journal of Dermatology, Volume 58, Issue 12, Page 1462-1465, December 2019.
Shi X, Li D, Chen M, Liu Y, Yan Q, Yu X, Zhu Y, Li Y.   +7 more
europepmc   +2 more sources

Periodontal Architecture in Ectodermal Dysplasia: An Observational Clinical and Histological Study. [PDF]

Oral Dis
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.
Montevecchi M, Liguori MG, Santini I, Sforza NM, Querzoli G, Valeriani L.   +5 more
europepmc   +2 more sources

Prosthodontic Management of a Patient with Ectodermal Dysplasia: Case Report [PDF]

Clinical, Cosmetic and Investigational Dentistry, 2023
Mohammad Bashir Nejabi,1 Abdurrahman Anwari,2 Hassina Shadab,3 Nargis Mtawakel,1 Fariha Omarzad,1 Mohammad Eissa Ahmadi3 1Prosthodontics Department, Kabul University of Medical Sciences (KUMS), Kabul, Afghanistan; 2Operative/ Restorative Dentistry and ...
Nejabi MB, Anwari A, Shadab H, Mtawakel N, Omarzad F, Ahmadi ME   +5 more
doaj   +2 more sources

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis. [PDF]

Anim Genet
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 ...
Rietmann SJ, Malatos J, Jagannathan V, Leeb T.   +3 more
europepmc   +2 more sources

Conventional Complete Denture in Patients with Ectodermal Dysplasia

Case Reports in Dentistry, 2015
Ectodermal dysplasia is described as heritable conditions that involve anomalies of structures derived from the ectoderm, including hypodontia. In the cases of edentulous young patients, who did not finish their craniofacial growth, treatment with ...
Larissa Soares Reis Vilanova, Alfonso Sánchez-Ayala, Giselle Rodrigues Ribeiro, Camila Heitor Campos, Arcelino Farias-Neto   +4 more
doaj   +2 more sources

Case Report of a Novel EVC Gene Mutation in Ellis-van Creveld Syndrome: Implications for Pediatric Dental Management. [PDF]

Case Rep Dent
Introduction Ellis–van Creveld (EVC) syndrome, also known as chondroectodermal dysplasia, is a rare autosomal recessive disorder that affects multiple embryonic tissues. It is primarily caused by mutations in the EVC gene. Patient Information We report an 11‐year‐old male diagnosed with EVC syndrome, who carries a novel homozygous pathogenic mutation ...
Shariati M, Tavassoli-Hojjati S, Hoseini AP, Jadidi H.   +3 more
europepmc   +2 more sources