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      Alternative Method for Full Oral Rehabilitation in Patients with Pycnodysostosis Syndrome: A Case Report

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          Abstract

          Pycnodysostosis (PYCD) is a rare autosomal recessive skeletal dysplasia arising from a change in the production of the cathepsin K enzyme and it is also known as Maroteaux-Lamy Syndrome. The main changes in the buccal and maxillofacial region are modifications of the facial bones (leading to the loss of the mandibular angle due to micrognathia), deep palate, premature and/or delayed tooth eruption, hypopneumatization of the maxillary sinuses, chin hypoplasia, hypercementosis, enamel hypoplasia, hyperdontia, incomplete dentin calcification, root hypoplasia, pulp chamber obliteration, and increased free functional space. This paper aims to report a case of a patient with PYCD, in which are highlighted the oral manifestations of this syndrome and present an option of oral rehabilitative treatment through a removable overdenture made on natural tooth of the patient. The technique of dental coating through overdenture is a simple, viable and conservative alternative for oral rehabilitation of patients with large maxillomandibular discrepancies, as in cases of pycnodysostosis, especially in the presence of increased free space – characteristic of patients with this syndrome. The result was quite satisfactory both aesthetically and functionally and provided a better life quality for the patient.

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          Most cited references 23

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          Promoção da saúde e qualidade de vida

           Paulo Buss (2000)
          Existem evidências científicas abundantes que mostram a contribuição da saúde para a qualidade de vida de indivíduos ou populações. Da mesma forma, é sabido que muitos componentes da vida social que contribuem para uma vida com qualidade são também fundamentais para que indivíduos e populações alcancem um perfil elevado de saúde. É necessário mais do que o acesso a serviços médico-assistenciais de qualidade, é preciso enfrentar os determinantes da saúde em toda a sua amplitude, o que requer políticas públicas saudáveis, uma efetiva articulação intersetorial do poder público e a mobilização da população. No presente artigo, o autor faz uma revisão da emergência e desenvolvimento da promoção da saúde, centrando sua análise justamente nas estratégias promocionais acima apontadas, que seriam aquelas que, a partir de proposições do setor saúde, apresentam-se como mais promissoras para o incremento da qualidade de vida, sobretudo em formações sociais com alta desigualdade sócio-sanitária, como é o caso do Brasil. É no movimento dos municípios saudáveis que tais estratégias se concretizam, através de seus próprios fundamentos e práticas, que estão estreitamente relacionados com as inovações na gestão pública para o desenvolvimento local integrado e sustentável e as Agendas 21 locais.
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            Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011

            Cathepsin K (CTSK) is a member of the papain-like cysteine protease family. Mutations in the CTSK gene cause a rare autosomal recessive bone disorder called pycnodysostosis (OMIM 265800). In order to follow the advances in the research about CTSK and pycnodysostosis, we performed a literature retrospective study of 159 pycnodysostosis patients reported since 1996 and focused on the genetic characteristics of CTSK mutations and/or the clinical phenotypes of pycnodysostosis. Thirty three different CTSK mutations have been found in 59 unrelated pycnodysostosis families. Of the 59 families, 37.29% are from Europe and 30.51% are from Asia. A total of 69.70% of the mutations were identified in the mature domain of CTSK, 24.24% in the proregion, and 6.06% in the preregion. The hot mutation spots are found in exons 6 and 7. CTSK mutations result in total loss or inactivity of the CTSK protein, which causes abnormal degradation of bone matrix proteins such as type I collagen. Skeletal abnormalities, including short stature, an increase in bone density with pathologic fractures, and open fontanels and sutures, are the typical phenotypes of pycnodysostosis. Research on Ctsk -/- mouse models was also reviewed here to elucidate the biological function of Ctsk and the mechanism of pycnodysostosis. New evidence suggests that Ctsk plays an important role in the immune system and may serve as a valid therapeutic target in the future treatment of pycnodysostosis.
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              Pycnodysostosis with unusual findings: a case report

              Pycnodysostosis is a rare clinical entity, first described in 1962 by Maroteaux and Lamy. The disease has also been named Toulouse-Lautrec syndrome, after the French artist Henri de Toulouse-Lautrec, who (it has been surmised) suffered from the disease. In 1996, the defective gene responsible for Pycnodysostosis was located, offering accurate diagnosis, carrier testing and a more thorough understanding of this disorder. It is an autosomal recessive osteochondrodysplasia, usually diagnosed at an early age with incidence estimated to be 1.7 per 1 million births. Pycnodysostosis is a lysosomal storage disease of the bone caused by a mutation in the gene that codes the enzyme cathepsin K. The syndrome has been frequently reported in history. This article reports unusual ophthalmologic findings, conductive hearing loss due to suspected otosclerosis and sandal gap deformity in a Pycnodysostosis patient.
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                Author and article information

                Journal
                Clin Cosmet Investig Dent
                Clin Cosmet Investig Dent
                CCIDE
                ccident
                Clinical, Cosmetic and Investigational Dentistry
                Dove
                1179-1357
                15 April 2020
                2020
                : 12
                : 131-139
                Affiliations
                [1 ]Federal University of Uberlândia, School of Dentistry , Uberlândia, MG, Brazil
                [2 ]Private Clinic , Uberlândia, Brazil
                [3 ]Federal University of Uberlândia, School of Mechanical Engineering , Uberlândia, MG, Brazil
                [4 ]University Center - UNIFAE, School of Dentistry , São João da Boa Vista, SP, Brazil
                Author notes
                Correspondence: Luiz Renato ParanhosFederal University of Uberlândia , Uberlândia, MG, BrazilTel +55 34 32258145 Email paranhos.lrp@gmail.com
                Article
                247614
                10.2147/CCIDE.S247614
                7167261
                08bef32f-0d16-44e7-8fc6-27846eced94f
                © 2020 Costa et al.

                This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License ( http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms ( https://www.dovepress.com/terms.php).

                Page count
                Figures: 12, Tables: 1, References: 26, Pages: 9
                Categories
                Case Report

                malocclusion, pycnodysostosis, oral rehabilitation

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