المؤلفون: Banu Guven Ezer, Eyyup Rencuzogullari

المصدر: Genes & Genetic Systems. 2023, 98(4):171

المؤلفون: Marina Cerezo-Cayuelas, Amparo Pérez-Silva, Clara Serna-Muñoz, Ascensión Vicente, Yolanda Martínez-Beneyto, Inmaculada Cabello-Malagón, Antonio José Ortiz-Ruiz

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-18 (2022)

مصطلحات موضوعية: Ectodermal dysplasia, Orthodontic treatment, Dentofacial orthopedic treatment, Anhidrotic ectodermal dysplasia, Hidrotic ectodermal dysplasia, Hypohidrotic ectodermal dysplasia, Medicine

الوصف: Abstract 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. Methods The systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-analysis statement. We systematically searched PubMed, Web of Science, Scopus, Scielo, LILACS, EBSCOhost and Embase databases up to 6 January 2022. We included articles describing patients with any type of ectodermal dysplasia who received orthodontic or dentofacial orthopedic treatment to facilitate functional and aesthetic oral rehabilitation. The search was not restricted by language or year of publication. The quality of the studies was assessed using the Joanna Briggs Institute Quality Assessment Scale of the University of Adelaide for case series and case reports. The review was registered at the University of York Centre for reviews (CRD42021288030). Results Of the initial 403 studies found, 29 met the inclusion criteria. After applying the quality scale, 23 were left for review—21 case reports and 2 case series. The initial age of patients ranged from 34 months to 24 years. Thirteen studies were on hypohidrotic and/or anhidrotic ectodermal dysplasia, of which two were X-chromosome linked. In one study, the patient had Wiktop syndrome, and in nine the type of ectodermal dysplasia was not specified. The duration of treatment was 7 weeks to 10 years. The treatments described were: fixed orthodontic appliances or simple acrylic plates designed for tooth movement, including leveling and aligning, closing of diastemata, retraction of impacted teeth in the dental arch; clear aligners; fixed and/or removable appliances for the correction of skeletal and/or dentoalveolar relationships; palatal expanders in combination with face masks for orthopedic traction of the maxilla; and orthognathic surgery. Only three studies provided cephalometric data. Conclusion The level of evidence of the articles reviewed was low and most orthopedic and dentofacial orthodontic treatments described were focused on correcting dental malpositioning and jaw asymmetries and not on stimulating growth from an early age. Studies with greater scientific evidence are needed to determine the best treatment for these patients.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/777e31c2611f452e858143f8cdd7e64eTest

المؤلفون: Schneider, H., Schweikl, C., Faschingbauer, F., Hadj-Rabia, S., Schneider, P.

المصدر: International journal of molecular sciences, vol. 24, no. 8, pp. 7155

مصطلحات موضوعية: Child, Pregnancy, Female, Infant, Humans, Male, Preschool, Ectodermal Dysplasia 1, Anhidrotic/genetics, Anhidrotic/therapy, Ectodysplasins/genetics, Ectodermal Dysplasia/genetics, Sweating, Hair, Recombinant Proteins, AlphaLisa, ectodermal dysplasia, ectodysplasin A, prenatal therapy, protein replacement, sweat glands, tooth development

الوصف: X-linked hypohidrotic ectodermal dysplasia (XLHED), caused by a genetic deficiency of ectodysplasin A1 (EDA1), is a rare developmental disorder of ectodermal derivatives such as hair, sweat glands, and teeth. The absence of sweat glands and perspiration can evoke life-threatening hyperthermia. As molecular genetic findings are not always conclusive, the concentrations of circulating EDA1 may help to distinguish between total and partial EDA1 deficiencies. We previously treated nine male patients with obvious signs of XLHED with a recombinant EDA1 replacement protein, Fc-EDA, either shortly after birth (n = 3) or by prenatal administration in gestational week 26 and beyond (n = 6). Here, we present the long-term follow-up for up to six years. In patients who had received Fc-EDA after birth, neither sweat glands nor sweating ability were detected at the age of 12-60 months. In contrast, prenatal EDA1 replacement resulted in ample sweat gland development and pilocarpine-inducible sweating in all treated subjects, who also attained more permanent teeth than their untreated affected relatives. Normal perspiration has persisted for six years in the two oldest boys treated repeatedly with Fc-EDA in utero. When they had a sauna, adequate thermoregulation was evidenced. Lower sweat production after single prenatal dosing may indicate a dose-response relationship. The absence of circulating EDA1 in five prenatally treated subjects proved that these children would have been unable to perspire if they had been left untreated. The sixth infant was shown to produce an EDA1 molecule that, albeit interacting with its cognate receptor, cannot activate EDA1 signaling. In conclusion, a causal treatment of XLHED before birth is feasible.

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37108325; info:eu-repo/semantics/altIdentifier/eissn/1422-0067; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_55995EB323AC9; https://serval.unil.ch/notice/serval:BIB_55995EB323ACTest; urn:issn:1422-0067; https://serval.unil.ch/resource/serval:BIB_55995EB323AC.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_55995EB323AC9Test

الإتاحة: https://doi.org/10.3390/ijms24087155Test
https://serval.unil.ch/notice/serval:BIB_55995EB323ACTest
https://serval.unil.ch/resource/serval:BIB_55995EB323AC.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_55995EB323AC9Test

المؤلفون: Daniel Hernández-González, Jennifer Orozco-Páez

المصدر: Journal of Oral Research, Vol 10, Iss 4, Pp 1-6 (2021)

مصطلحات موضوعية: ectodermal dysplasia 1, anhidrotic, christ-siemens-touraine, anodontia, dental prosthesis, implant-supported, dental implants, computer-aided design, Dentistry, RK1-715

الوصف: Introduction: Ectodermal dysplasia (ED) comprises a broad group of genetic disorders characterized by alterations of the structures derived from the ectoderm, including those of the stomatognathic system. Case Report: The present article aims to report the prosthetic management of a patient with anhidrotic ectodermal dysplasia. A male patient diagnosed with ED who attended the dental consultation displaying oligodontia; underdeveloped alveolar ridges were observed. Results: The established treatment consisted of the adaptation of implant-supported fixed full-arch prosthesis designed through CAD-CAM technology for the lower jaw and of a removable partial prosthesis with muco-dental support for the upper jaw. The dental approach of patients with ED is based on a correct analysis of the facial characteristics and stomatological conditions of each subject. Conclusion: A multidisciplinary approach is mandatory due to the biological and functional complexity in biomechanical terms of these individuals.

وصف الملف: electronic resource

العلاقة: https://joralres.com/index.php/JOralRes/article/view/joralres.2021.057/969Test; https://doaj.org/toc/0719-2460Test; https://doaj.org/toc/0719-2479Test

الوصول الحر: https://doaj.org/article/bd9d42a53a9f40c19ab7cba5811eeb12Test

المؤلفون: Piotr Jarliński, Jolanta Węgłowska, Agnieszka Odziomek, Ewelina A. Rebizak, Jakub Marczuk

المصدر: Przegląd Dermatologiczny, Vol 107, Iss 6, Pp 557-561 (2021)

مصطلحات موضوعية: hypohidrotic ectodermal dysplasia, anhidrotic ectodermal dysplasia, x-linked hypohidrotic ectodermal dysplasia, christ-siemens-touraine syndrome., Medicine, Dermatology, RL1-803

وصف الملف: electronic resource

العلاقة: https://www.termedia.pl/Hypohidrotic-ectodermal-dysplasia,56,43357,1,1.htmlTest; https://doaj.org/toc/0033-2526Test; https://doaj.org/toc/2084-9893Test

الوصول الحر: https://doaj.org/article/d3d020a05e3047038ff291a2f042168bTest

المؤلفون: Bouhmidi, Massilia, Boudarbala, Hajar, Elouali, Aziza, Babakhouya, Abdeladim, Maria, Rkain, Benajiba, Noufissa

المصدر: Cureus ; ISSN:2168-8184 ; Volume:16 ; Issue:5

مصطلحات موضوعية: anhidrotic ectodermal dysplasia, anodontia, christ-siemens-touraine syndrome, hypohidrosis, hypotrichosis

الوصف: Anhidrotic ectodermal dysplasia (AED), or Christ-Siemens-Touraine syndrome, is an X-linked recessive dermatosis. Rare in incidence, it affects 1 in 100,000 births, mostly boys. Through this observation, we detail the clinical signs that led us to suspect the diagnosis, how this pathology was confirmed, and the therapeutic management we carried out. We present a case of a 10-month-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, and tear glands. He also had complete anodontia and a dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. Although Christ-Siemens-Touraine syndrome is a rare condition, it is vital to recognize it early to improve care and prognosis for these patients, while mitigating the psychological impact of the condition on both children and parents.

العلاقة: https://doi.org/10.7759/cureus.60022Test; https://pubmed.ncbi.nlm.nih.gov/38854225Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11162553Test/

الإتاحة: https://doi.org/10.7759/cureus.60022Test
https://pubmed.ncbi.nlm.nih.gov/38854225Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11162553Test/

المؤلفون: Del-Pozo, J., Headon, D.J., Glover, J.D., Azar, A., Schuepbach-Mallepell, S., Bhutta, M.F., Riddell, J., Maxwell, S., Milne, E., Schneider, P., Cheeseman, M.

المصدر: Disease models & mechanisms, vol. 15, no. 3, pp. dmm049034

مصطلحات موضوعية: Animals, Ear Canal, Ectodermal Dysplasia 1, Anhidrotic, Ectodysplasins, Female, Lactation, Mice, Otitis Externa, EDAR, EDARADD, FBXO11, Hypohidrotic ectodermal dysplasia, MECOM, Sparse and wavy hair rat, Tabby mouse

الوصف: In mice, rats, dogs and humans, the growth and function of sebaceous glands and eyelid Meibomian glands depend on the ectodysplasin signalling pathway. Mutation of genes encoding the ligand EDA, its transmembrane receptor EDAR and the intracellular signal transducer EDARADD leads to hypohidrotic ectodermal dysplasia, characterised by impaired development of teeth and hair, as well as cutaneous glands. The rodent ear canal has a large auditory sebaceous gland, the Zymbal's gland, the function of which in the health of the ear canal has not been determined. We report that EDA-deficient mice, EDAR-deficient mice and EDARADD-deficient rats have Zymbal's gland hypoplasia. EdaTa mice have 25% prevalence of otitis externa at postnatal day 21 and treatment with agonist anti-EDAR antibodies rescues Zymbal's glands. The aetiopathogenesis of otitis externa involves infection with Gram-positive cocci, and dosing pregnant and lactating EdaTa females and pups with enrofloxacin reduces the prevalence of otitis externa. We infer that the deficit of sebum is the principal factor in predisposition to bacterial infection, and the EdaTa mouse is a potentially useful microbial challenge model for human acute otitis externa.

وصف الملف: application/pdf

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/35107126; info:eu-repo/semantics/altIdentifier/eissn/1754-8411; info:eu-repo/grantAgreement/SNF/Projects/176256///; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_A41FC1BA53F19; https://serval.unil.ch/notice/serval:BIB_A41FC1BA53F1Test; urn:issn:1754-8403; https://serval.unil.ch/resource/serval:BIB_A41FC1BA53F1.P001/REF.pdfTest; http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_A41FC1BA53F19Test

الإتاحة: https://doi.org/10.1242/dmm.049034Test
https://serval.unil.ch/notice/serval:BIB_A41FC1BA53F1Test
https://serval.unil.ch/resource/serval:BIB_A41FC1BA53F1.P001/REF.pdfTest
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_A41FC1BA53F19Test

المؤلفون: Satoshi Inaba, Yuta Aizawa, Yuki Miwa, Chihaya Imai, Hidenori Ohnishi, Hirokazu Kanegane, Akihiko Saitoh

المصدر: Frontiers in Immunology, Vol 12 (2021)

مصطلحات موضوعية: preserved umbilical cord, hyper IgM syndrome, anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), NEMO, case report, Immunologic diseases. Allergy, RC581-607

الوصف: Family history is one key in diagnosing inborn errors of immunity (IEI); however, disease status is difficult to determine in deceased relatives. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is one of the hyper IgM syndromes that is caused by a hypomorphic variant in the nuclear factor kappa beta essential modulator. We identified a novel IKBKG variant in a 7-month-old boy with pneumococcal rib osteomyelitis and later found that his mother has incontinentia pigmenti. Genetic analysis of preserved umbilical cords revealed the same variant in two of his deceased maternal uncles. Analysis of preserved umbilical cord tissue from deceased relatives can provide important information for diagnosing IEI in their descendants.

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2021.786164/fullTest; https://doaj.org/toc/1664-3224Test

الوصول الحر: https://doaj.org/article/ba7a0becc59d42b29ea9f3268163bf41Test

المؤلفون: Miwako Toyohara, Yuko Kajiho, Etsushi Toyofuku, Chie Takahashi, Keiho Owada, Shoichiro Kanda, Yutaka Harita, Hidenori Ohnishi, Taizo Wada, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio, Akira Oka

المصدر: Clinical Case Reports, Vol 9, Iss 11, Pp n/a-n/a (2021)

مصطلحات موضوعية: genetic counseling, incontinentia pigmenti, Pneumocystis jirovecii pneumonia, X‐linked anhidrotic ectodermal dysplasia with immunodeficiency, Medicine, Medicine (General), R5-920

الوصف: Abstract Pneumocystis jirovecii pneumonia associated with primary immunodeficiency should be considered in infants with slowly progressing cyanosis, even without fever or respiratory symptoms. Genetic counseling is crucial for incontinentia pigmenti families in advance of pregnancy because lethal infections can occur before the diagnosis of X‐linked anhidrotic ectodermal dysplasia with immunodeficiency.

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2050-0904Test

الوصول الحر: https://doaj.org/article/dc3a5ff08f5943cf9853e67df67a804cTest

المؤلفون: Коnkin D. Е., Bartsevich I. G., Brynina А. V., Kholad Y. Т.

المصدر: Žurnal Grodnenskogo Gosudarstvennogo Medicinskogo Universiteta, Vol 16, Iss 4, Pp 493-496 (2018)

مصطلحات موضوعية: Krist-Seimens-Turen syndrome, anhidrotic ectodermal dysplasia, atopic dermatitis, Medicine

الوصف: The article presents observation of a child aged 4 years with hereditary Krist-Seimens-Turen syndrome combined with atopic dermatitis. The clinical description of the syndrome and modern approaches to treatment have been analyzed.

وصف الملف: electronic resource

العلاقة: http://journal-grsmu.by/index.php/ojs/article/view/2308/2108Test; https://doaj.org/toc/2221-8785Test; https://doaj.org/toc/2413-0109Test

الوصول الحر: https://doaj.org/article/d6e0a22bebe94f33b4d66403825aefacTest