|Lhermitte Duclos Disease
The phosphatase and tensin homolog (PTEN) gene negatively regulates cell proliferation and cell cycle progression. Loss of PTEN function contributes to an increased risk of cancer.
- Also called multiple hamartoma syndrome
- Inherited condition Autosomal dominant of PTEN gene
- Part of PTEN Hamartoma Tumor Syndrome spectrum
- Large head (macrocephaly)
- Hair follicle: trichilemmomas
- Mouth: white papules papillomatous papules
- Breast, thyroid, and endometrial cancers
- Breast self-examination starting at age 18.
- Clinical breast exam starting at age 25 or 5-10 years before the earliest breast cancer in the family occurred.
- Patient education about endometrial cancer symptoms and clinical screening.
- Discussion of prophylactic mastectomy and hysterectomy.
- Men and women
- Annual physical examination starting at age 18 or 5 years before the youngest age of cancer in family history.
- Thyroid ultrasound at age 18, then once a year.
- Colonoscopy, starting at the age of 35, then every 5 to 10 years.
- Annual dermatologic exam.
- Risk to relatives
- Explain possible inherited cancer risks to relatives, options for risk assessment and management.
- Provide genetic counseling.