Cowden syndrome
ORPHA:201· ICD-10 Q85.8
Definition
A genodermatosis characterized by the presence of multiple hamartomas in various tissues and an increased risk for malignancies of the breast, thyroid, endometrium, kidney and colorectum. When CS is accompanied by germline PTEN mutations, it belongs to the PTEN hamartoma tumor syndrome (PHTS) group.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- All ages