Makindo Medical Notes

Related Subjects: |Lhermitte Duclos Disease |Cowden Syndrome

🧬 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. ⚠️

ℹ️ About

• Also called multiple hamartoma syndrome.
• Autosomal dominant condition caused by PTEN mutations.

🧬 Aetiology

• Part of the PTEN Hamartoma Tumour Syndrome spectrum.

👩‍⚕️ Clinical Features

• 🧠 Macrocephaly (large head).
• 🧴 Trichilemmomas (hair follicle tumours).
• 👄 Oral papillomas (white papules in the mouth).
• 🎀 ↑ Risk of breast, thyroid, and endometrial cancers.

🔎 Investigations

• As needed for tumour localisation (imaging, biopsy) and genetic testing. 🧪

📑 Diagnostic Criteria

• 🩺 Pathognomonic: • Mucocutaneous lesions (facial trichilemmomas, acral keratoses, oral papillomas). • ≥3 facial trichilemmomas, multiple oral papillomas, or ≥3 acral/palmoplantar keratoses.
• 🎗️ Major: • Breast cancer • Thyroid cancer (esp. follicular) • Macrocephaly (OFC ≥97th percentile) • Lhermitte-Duclos disease (cerebellar gangliocytoma) • Endometrial cancer
• 📌 Minor: • Other thyroid lesions (adenoma, multinodular goitre) • Intellectual disability (IQ ≤75) 🧩 • GI hamartomas or ganglioneuromas 🍽️ • Fibrocystic breast disease • Lipomas / fibromas • Renal cell carcinoma / GU malformations • Ovarian cysts, fibromas, uterine fibroids
• 🧾 Operational diagnosis: • Pathognomonic mucocutaneous lesions, OR • 2 major criteria, OR • 1 major + ≥3 minor, OR • ≥4 minor criteria. • Genetic confirmation of PTEN mutation ✅

💊 Management

• 👩 Women: • Breast self-exam from 18. • Clinical breast exam from 25 (or 5–10 yrs before earliest family case). • Awareness + screening for endometrial cancer. • Consider prophylactic mastectomy ± hysterectomy.
• 👨‍👩‍👧‍👦 Men & Women: • Annual physical from 18. • Yearly thyroid US from 18. • Colonoscopy from 35 → every 5–10 yrs. • Annual dermatology review. 👩‍⚕️
• 👪 Relatives: • Explain inherited cancer risks. • Offer genetic counselling & testing 🧬.

📚 References

• Cowden Syndrome – NCBI

💡 Exam Tip: Think Cowden Syndrome when you see the triad: 🧠 Macrocephaly + 👄 Oral papillomas + 🎀 Breast/thyroid/endometrial cancer risk.