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.

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