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
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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 +6 more
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A new syndromic case of hearing loss and ectodermal anomalies associated with a recurrent missense variation in GJB6 gene [PDF]
Molecular Genetics & Genomic MedicineGJB2 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 +8 more
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Conventional Complete Denture in Patients with Ectodermal Dysplasia [PDF]
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 +4 more
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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 +3 more
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Clouston's hidrotic ectodermal dysplasia
The Pan African Medical Journal, 2018 A 2-year-old girl, from a consanguineous and phenotypically normal family. Her mother who brought her to our institution reporting that the child had hair loss, scanty eyelashes and eyebrows since she was two months old.
Ahmed Bouhamidi, Mohammed Boui
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Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report. [PDF]
World J Clin Cases, 2023 We report on a large family of Chinese Han individuals with hidrotic ectodermal dysplasia (HED) with a variation in GJB6 (c.31G>A). The patients in the family had a triad of clinical manifestations of varying degrees. Although the same variation locus have been reported, the clinical manifestations of this family were difficult to distinguish from ...
Liao MY +5 more
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Orthodontic and dentofacial orthopedic treatments in patients with ectodermal dysplasia: a systematic review [PDF]
Orphanet Journal of Rare Diseases, 2022 Objective The objective of this systematic review was to determine the orthodontic and dentofacial orthopedic treatments carried out in patients with ectodermal dysplasia to facilitate functional and aesthetic rehabilitation.
Marina Cerezo-Cayuelas +6 more
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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 +5 more
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Molecular basis and genetics of hypohidrotic ectodermal dysplasias. [PDF]
Vavilovskii Zhurnal Genet Selektsii, 2023 Ectodermal dysplasia (ED) is a heterogeneous group of hereditary diseases of the skin and its appendages, which are characterized by impaired development and/or homeostasis of two or more ectoderm derivatives, including: hair, teeth, nails, sweat glands ...
Kovalskaia VA +3 more
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