Literature DB >> 12374924

Rothmund-Thomson syndrome: a case report.

M Cenk Haytaç1, Haluk Oztunç, Ufuk O Mete, Mehmet Kaya.   

Abstract

Rothmund-Thomson syndrome (RTS) is an extremely rare genetic disorder characterized by poikilodermatous skin changes, photosensitivity, and an increased risk of developing skin and bone malignancies. In this case report, the dental and periodontal features of RTS in a 16-year-old female patient are presented. The transmission electron microscopy performed on a gingival biopsy specimen showed structural defects of connective tissue. If the unusual ultrastructural findings of this case are confirmed as being consistent with other RTS patients, it is our opinion that this syndrome can be considered among the systemic diseases associated with early-onset periodontitis.

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Year:  2002        PMID: 12374924     DOI: 10.1067/moe.2002.127584

Source DB:  PubMed          Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol Endod        ISSN: 1079-2104


  8 in total

1.  CANDLE Syndrome: orodfacial manifestations and dental implications.

Authors:  T Roberts; L Stephen; C Scott; T di Pasquale; A Naser-Eldin; M Chetty; S Shaik; L Lewandowski; P Beighton
Journal:  Head Face Med       Date:  2015-12-28       Impact factor: 2.151

2.  Clinical findings, dental treatment, and improvement in quality of life for a child with Rothmund-Thomson syndrome.

Authors:  Katharina Morant Holanda De Oliveira; Raquel Assed Bezerra Silva; Fabricio Kitazono Carvalho; Lea Assed Bezerra Silva; Paulo Nelson-Filho; Alexandra Mussolino Queiroz
Journal:  Contemp Clin Dent       Date:  2016 Apr-Jun

Review 3.  Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.

Authors:  Michael F Walsh; Vivian Y Chang; Wendy K Kohlmann; Hamish S Scott; Christopher Cunniff; Franck Bourdeaut; Jan J Molenaar; Christopher C Porter; John T Sandlund; Sharon E Plon; Lisa L Wang; Sharon A Savage
Journal:  Clin Cancer Res       Date:  2017-06-01       Impact factor: 12.531

Review 4.  Rothmund-Thomson syndrome.

Authors:  Lidia Larizza; Gaia Roversi; Ludovica Volpi
Journal:  Orphanet J Rare Dis       Date:  2010-01-29       Impact factor: 4.123

5.  Atypical meningioma as a solitary malignancy in a patient with Rothmund-Thompson syndrome.

Authors:  Niv Pencovich; Nevo Margalit; Shlomi Constantini
Journal:  Surg Neurol Int       Date:  2012-12-14

6.  Oral findings of rothmund-thomson syndrome.

Authors:  Emin Murat Canger; Peruze Celenk; Inci Devrim; Aysun Avşar
Journal:  Case Rep Dent       Date:  2013-11-30

7.  Multiple Low Energy Long Bone Fractures in the Setting of Rothmund-Thomson Syndrome.

Authors:  Nicholas Beckmann
Journal:  Case Rep Med       Date:  2015-11-05

Review 8.  DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.

Authors:  Richa Sharma; Sara Lewis; Marcin W Wlodarski
Journal:  Front Pediatr       Date:  2020-10-23       Impact factor: 3.418

  8 in total

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