Rothmund-Thomson Syndrome: a Case Report
Overview
Affiliations
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.
Rothmund-Thomson syndrome, a disorder far from solved.
Martins D, di Lazzaro Filho R, Bertola D, Hoch N Front Aging. 2023; 4:1296409.
PMID: 38021400 PMC: 10676203. DOI: 10.3389/fragi.2023.1296409.
DNA Repair Syndromes and Cancer: Insights Into Genetics and Phenotype Patterns.
Sharma R, Lewis S, Wlodarski M Front Pediatr. 2020; 8:570084.
PMID: 33194896 PMC: 7644847. DOI: 10.3389/fped.2020.570084.
Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Walsh M, Chang V, Kohlmann W, Scott H, Cunniff C, Bourdeaut F Clin Cancer Res. 2017; 23(11):e23-e31.
PMID: 28572264 PMC: 5697784. DOI: 10.1158/1078-0432.CCR-17-0465.
de Oliveira K, Silva R, Carvalho F, Silva L, Nelson-Filho P, Queiroz A Contemp Clin Dent. 2016; 7(2):240-2.
PMID: 27307676 PMC: 4906872. DOI: 10.4103/0976-237X.183052.
CANDLE Syndrome: orodfacial manifestations and dental implications.
Roberts T, Stephen L, Scott C, di Pasquale T, Naser-Eldin A, Chetty M Head Face Med. 2015; 11:38.
PMID: 26711936 PMC: 4693439. DOI: 10.1186/s13005-015-0095-4.