Rothmund-Thomson syndrome: A case report

• Published in: Oral surgery, oral medicine, oral pathology, oral radiology and endodontics Vol. 94; no. 4; pp. 479 - 484
• Main Authors: Haytaç, M.Cenk, Öztunç, Haluk, Mete, Ufuk Ö., Kaya, Mehmet
• Format: Journal Article
• Language: English
• Published: St. Louis, MO Mosby, Inc 01-10-2002; Elsevier
• Subjects: Adolescent; Anodontia - etiology; Biological and medical sciences; Connective Tissue - ultrastructure; Dental Enamel Hypoplasia - etiology; Dentistry; Facial bones, jaws, teeth, parodontium: diseases, semeiology; Female; Follow-Up Studies; Furcation Defects - etiology; Gingiva - ultrastructure; Gingival Hemorrhage - etiology; Head and neck surgery. Maxillofacial surgery. Dental surgery. Orthodontics; Humans; Incisor - abnormalities; Maxillofacial surgery. Dental surgery. Orthodontics; Medical sciences; Microscopy, Electron; Non tumoral diseases; Otorhinolaryngology. Stomatology; Periodontal Attachment Loss - etiology; Periodontal Diseases - etiology; Periodontal Pocket - etiology; Rothmund-Thomson Syndrome - complications; Rothmund-Thomson Syndrome - pathology; Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases; Tooth Abnormalities - etiology; Tooth Root - abnormalities; Skin disease; Parodontium; Molar tooth; Endodontic procedures; Histopathology; Surgery; Female; Extraction; Diagnosis; Human; Pigmentation disorder; Radiodiagnosis; Stomatology; Dental disease; Rothmund congenital poikiloderma; Genetic disease; Case study; Pathology; Periodontal disease; Treatment; Adolescent; Clinical investigation; Tooth; Lesion; Panoramic radiography
• ISSN: 1079-2104; 1528-395X
• DOI: 10.1067/moe.2002.127584

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. (Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2002;94:479-84)