Cowden Syndrome: A Critical Review of the Clinical Literature

@article{Pilarski2008CowdenSA,
  title={Cowden Syndrome: A Critical Review of the Clinical Literature},
  author={R. Pilarski},
  journal={Journal of Genetic Counseling},
  year={2008},
  volume={18},
  pages={13-27}
}
  • R. Pilarski
  • Published 2008
  • Medicine
  • Journal of Genetic Counseling
Cowden syndrome (CS) is a multi-system disease involving hamartomatous overgrowth of tissues of all three embryonic origins and increased risks for thyroid, breast and possibly other cancers. Benign breast, thyroid, uterine and skin lesions are also common. Approximately 80% of patients with CS have an identifiable germline mutation in the PTEN gene. The majority of the existing data on the frequencies of component clinical features have been obtained from compilations of case reports in the… Expand
240 Citations

Paper Mentions

Observational Clinical Trial
The purpose of this study is to gain a better understanding of access to clinical and research resources for families of children affected with a phosphatase and tensin homology… Expand
ConditionsPTEN Gene Mutation
Cowden Syndrome: report of a case and brief review of literature*
  • 13
  • PDF
Occult Breast Cancer due to Multiple Calcified Hamartomas in a Patient with Cowden Syndrome
  • 1
  • PDF
...
1
2
3
4
5
...

References

SHOWING 1-10 OF 128 REFERENCES
Will the real Cowden syndrome please stand up: revised diagnostic criteria.
  • C. Eng
  • Medicine
  • Journal of medical genetics
  • 2000
  • 504
  • Highly Influential
  • PDF
Cowden's disease (multiple hamartoma and neoplasia syndrome). A case report and review of the English literature.
  • 220
  • Highly Influential
Cowden's Disease with Associated Malignant Melanoma
  • 15
The Cowden syndrome: a clinical and genetic study in 21 patients
  • 488
  • Highly Influential
Testicular lipomatosis in Cowden's syndrome
  • 38
  • PDF
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations
  • 250
  • Highly Influential
  • PDF
Multiple hamartoma syndrome (Cowden's disease).
  • 237
Localization of the gene for Cowden disease to chromosome 10q22–23
  • 594
Ganglioneuromatosis of the colon and extensive glygogenic acanthosis in Cowden's disease
  • 35
Cowden disease and Lhermitte-Duclos disease: an update. Case report and review of the literature.
  • 81
  • PDF
...
1
2
3
4
5
...