Derm: Peutz-Jeghers Syndrome: Free MSRA Podcast

⚕️ FREE MSRA PODCAST – Peutz-Jeghers Syndrome🎧 A clear, high-yield breakdown of this rare genetic polyposis syndrome – perfect for exam prep and real-life clinical scenarios.🧠 Key Learning Points📌 Definition• Peutz-Jeghers Syndrome (PJS) is a rare inherited condition marked by hamartomatous GI polyps and mucocutaneous pigmentation.• Strongly associated with increased cancer risk (GI and extra-GI).📌 Causes & Risk Factors• Mutation in the STK11 (LKB1) gene on chromosome 19• Inherited in an autosomal dominant pattern• ~50% of cases are de novo mutations• Strongest risk factor: positive family history📌 Pathophysiology• STK11 gene regulates cell growth; acts as a tumour suppressor• Mutation → disorganised cell proliferation → hamartomas in GI tract• Also disrupts melanin regulation → pigmented macules on lips, mucosa📌 Symptoms• Dark freckles on lips, oral mucosa, perianal/genital areas• GI polyps → colicky abdominal pain, bleeding, anaemia• Intussusception is a common first presentation• Other signs: rectal prolapse, early puberty (rare)📌 Differential Diagnosis• Familial Adenomatous Polyposis (FAP)• Juvenile Polyposis Syndrome (JPS)• Cowden Syndrome, Cronkhite-Canada Syndrome📌 Diagnosis• WHO criteria (only one required): 1. ≥3 histologically confirmed PJS polyps 2. Any PJS polyp + family history 3. Typical pigmentation + family history• Confirm via genetic testing for STK11 mutation📌 Management• Lifelong surveillance is essential• Regular: – Upper GI endoscopy + colonoscopy (start age 12) – Capsule endoscopy for small bowel – Colonoscopy every 2 years from age 25• Polyp removal: endoscopic, balloon enteroscopy, or surgery• Monitor for extra-GI cancers: – Breast, pancreas, ovary, testicle, lung• Genetic counselling for family• Cosmetic pigmentation can be treated with laser/light therapy📌 Complications• GI obstruction (often intussusception)• GI bleeding → iron deficiency anaemia• High lifetime risk of multiple cancers• Scarring or recurrence if polyps not fully removed📌 Prognosis• Lifelong condition but good outcomes with surveillance• Early detection and proactive polyp removal = ↓ cancer risk• Requires multidisciplinary care and family testing📎 More MSRA Resources for Peutz-Jeghers Syndrome📝 Revision Notes:https://www.passthemsra.com/topic/peutz-jeghers-syndrome-revision-notes-2/🧠 Flashcards:https://www.passthemsra.com/topic/peutz-jeghers-syndrome-flashcards/💬 Accordion Q&A Notes:https://www.passthemsra.com/topic/peutz-jeghers-syndrome-accordion-qa-notes/🚀 Rapid Quiz:https://www.passthemsra.com/topic/peutz-jeghers-syndrome-rapid-quiz/🧪 Topic Quiz:https://www.passthemsra.com/quizzes/peutz-jeghers-syndrome/🎓 Full Course:https://www.passthemsra.com/courses/dermatology-for-the-msra/Hashtags#MSRA #MSRARevision #MSRATextbook #MSRAQuiz #MSRAQuestionBank #MSRAFlashcards #MSRAQ&ANotes #MSRAAccordions #MultiSpecialityRecruitmentAssessment #MSRAOnlineRevision #MSRARevisionWebsite #PeutzJeghersSyndrome #PJS #Dermatology