Article Text

Download PDFPDF
Cowden syndrome: new clinical features in a large family; joint hyperextensibility, dental abnormalities and gingival enlargement
  1. Ataf Sabir1,2,
  2. Gabriella Parry3,
  3. Tricia Heaton2 and
  4. Kai Ren Ong2
  1. 1Clinical Genetics Department, Guy's King’s College and Saint Thomas’ Hospitals’ Medical and Dental School of King’s College London, London, UK
  2. 2Clinical Genetics Department, Birmingham Women’s and Children’s NHS Foundation Trust, Birmingham, UK
  3. 3Department of Medicine, Stepping Hill Hospital, Stockport, UK
  1. Correspondence to Dr Ataf Sabir; ataf.sabir2{at}


A 4-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. This case reminds clinicians to seek genetic input for PTEN testing when macrocephaly is identified alongside, a personal or FH of ID, early-onset tumours (especially breast, bowel or thyroid) or multiple tumours. Thus detailed FH is pivotal to earlier CS diagnosis and improved patient outcomes.

  • genetics
  • dentistry and oral medicine
  • paediatrics
  • genetic screening / counselling
  • oncology

Statistics from


  • AS and GP are joint first authors.

  • Contributors AS and GP are joint first authors and wrote the manuscript. AS, TH and KRO were the consulting clinicians. TH and KRO critiqued and edited the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.