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Cowden's disease in three siblings: electron-microscope and immunological studies
Acta Dermato-Venereologica
|January 1, 1985
Summary
Cowden disease, a rare genetic disorder, was identified in three siblings. This study details their mucocutaneous lesions, hamartomas, and immunological findings, contributing to understanding this condition.
Area of Science:
- Genetics
- Dermatology
- Immunology
Background:
- Cowden disease is a rare autosomal dominant disorder characterized by a high risk of developing benign and malignant tumors.
- It is associated with germline mutations in the PTEN gene, a tumor suppressor gene.
- Clinical manifestations include mucocutaneous lesions, hamartomas in various organs, and an increased risk of cancer.