Cowden syndrome | British Dental Journal

Sabir A, Parry G, Heaton T, Ong K R. Cowden syndrome: new clinical features in a large family; joint hyperextensibility, dental abnormalities and gingival enlargement. _BMJ Case Rep_ 2021;

14: DOI: 10.1136/bcr-2020-236768. NOVEL FEATURES OF COWDEN SYNDROME INCLUDE GINGIVAL ENLARGEMENT AND DENTAL ABNORMALITIES. A four-year-old boy presented with his mother to genetics in the

1980s, with a family history (FH) of macrocephaly and intellectual disability (ID). He remained undiagnosed until his mother developed multiple cancers and was diagnosed with Cowden syndrome

(CS) in 2017, a rare, multisystem cancer predisposition syndrome. CS was then confirmed in multiple family members. Clinical examination revealed potentially novel features; gingival

enlargement, dental abnormalities and joint hyperextensibility. These features could contribute to revised _PTEN_ hamartoma tumour syndrome, National Comprehensive Cancer Network, minor

diagnostic criteria. The paediatric CS phenotype is still emerging, and features expressed in this family during childhood could potentially aid paediatric diagnosis. AUTHOR INFORMATION

AUTHORS AND AFFILIATIONS * Specialist Periodontist at RW Perio and Associate Specialist at King’s College Dental Hospital, London, UK Reena Wadia Authors * Reena Wadia View author

publications You can also search for this author inPubMed Google Scholar RIGHTS AND PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Wadia, R. Cowden syndrome. _Br

Dent J_ 230, 362 (2021). https://doi.org/10.1038/s41415-021-2852-z Download citation * Published: 26 March 2021 * Issue Date: March 2021 * DOI: https://doi.org/10.1038/s41415-021-2852-z

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