Cowden syndrome complicated by schizophrenia: A first clinical report

Yusuke Kobayashi, Takashi Takeda, Haruko Kunitomi, Arisa Ueki, Kumiko Misu, Ayari Kowashi, Takayuki Takahashi, Mayuka Anko, Keiko Watanabe, Kenta Masuda, Takahito Uchida, Eiichiro Tominaga, Kouji Banno, Kenjiro Kosaki, Daisuke Aoki

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)


Patients with Cowden syndrome exhibit mucocutaneous lesions, hamartomatous polyposis of the gastrointestinal tract, and macrocephaly, often complicated by malignant tumors, such as breast, thyroid, and uterine cancers. Autism spectrum and epilepsy have been known as neuropsychiatric symptoms associated with Cowden syndrome; however, to the best of our knowledge, there is no report on cases complicated by schizophrenia. Here, we report a first case of Cowden syndrome complicated by schizophrenia. A 49-year-old Japanese woman started experiencing auditory hallucinations in her teens. She had left breast cancer at the age of 34 years, and right breast cancer at the age of 37 years, all of which were surgically treated. She was also being treated by oral medications for Hashimoto's disease. On consulting her previous doctor for abnormal uterine bleeding that lasted for a year, she was diagnosed with endometrial cancer. However, immediately before surgery, her auditory hallucinations and paranoid delusions became severe, and she was referred to our hospital for detailed examination and treatment. No abnormalities were found on head MRI, and she was diagnosed with schizophrenia on the basis of neuropsychiatric examination findings. After her psychiatric symptoms were controlled by 2 mg of risperidone, she underwent surgery for endometrial cancer. Although there was no apparent family history, physical findings including macrocephaly and papillomatous skin lesions together with her past medical history of multiple malignant tumors suggested Cowden syndrome. Postoperatively, genetic testing revealed a pathogenic variant c.655C > T; p. Gln219* (NM_000314.4) in PTEN, leading to the confirmation of the diagnosis of Cowden syndrome.

Original languageEnglish
Article number103959
JournalEuropean Journal of Medical Genetics
Issue number8
Publication statusPublished - 2020 Aug


  • Cowden syndrome
  • Endometrial cancer
  • Schizophrenia

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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