Abstract | INTRODUCTION: CASE PRESENTATION: A 28-year-old African-American female presented with generalized gingival overgrowth that involved the palate, gingival margins, and retromolar areas. The dorsal tongue also exhibited a generalized tissue hyperplasia. Based on clinical presentation, biopsies were performed for histology and genetic testing. Although histology revealed non-specific fibroepithelial hyperplasia, genetic testing revealed a novel heterozygous mutation of the PTEN gene (c.158_164dupTAGTAAG), believed to result in premature termination of the protein. The patient did not exhibit macrocephaly or extraoral skin lesions and did not have any obvious cognitive deficit. CONCLUSIONS: This presentation of a Cowden syndrome-like scenario demonstrates that intraoral lesions may be the first symptom leading to a diagnosis of PHTS. Furthermore, the case shows that communication with and referral from the general dentist to specialists (e.g., oral pathologist, oral surgeon, or periodontist) can facilitate the establishment of a definitive diagnosis and allow for preventive screening and genetic counseling to aid in the treatment of secondary diseases, most notably associated cancers.
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Authors | Amon E Holt 3rd, Brett L Ferguson, Tanya M Gibson, Keerthana M Satheesh, Charles M Cobb |
Journal | Clinical advances in periodontics
(Clin Adv Periodontics)
Vol. 6
Issue 1
Pg. 21-26
(Feb 2016)
ISSN: 2163-0097 [Electronic] United States |
PMID | 32689721
(Publication Type: Case Reports)
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Copyright | © 2016 American Academy of Periodontology. |