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Peutz Jeghers Syndrome-Are you mindful of the key features? Watch now-usmle, neetpg, plab, fmge
Peutz-Jeghers syndrome-This video explains all the salient features of Peutz-Jeghers syndrome including pathogenesis, morphology, clinical features, complications and treatment aspects.
Also watch:
https://www.youtube.com/playli....st?list=PL0-Q_iDcO3a
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#Peutz-Jeghers Syndrome
General Features:
Hamartomatous Polyps throughout intestine. Polyps may also occur in gall bladder, bladder and nasopharynx.
Multiple areas of mucocutaneous melanin pigmentation on the face, hands, feet, buccal mucosa and genitalia.
Almost all cases are linked to a germline mutation in LKB1 / STK11 at 19p13.3
Microscopic features: Hamartomatous mucosal polyps with characteristic central core of branching smooth muscle, smooth muscle, lamina propria, and glands lined by normal-appearing intestinal epithelium
Dysplasia and adenocarcinoma can develop within polyps
Clinical Features:
Mucocutaneous pigmented lesions are common and may be the first clue to an individual having Peutz-Jeghers syndrome; however, this pigmentation may fade over time
Presenting symptoms commonly include GI bleeding, abdominal pain or intussusception
Equal male and female incidence with median age of 11-12 yrs.
High risk of developing sex cord tumors of the testes, gastric , small intestinal cancers, colon, pancreatic, breast, lung, ovarian, and uterine cancers.
Treatment:
After an initial evaluation of endoscopic features of the small and large bowel, repeat evaluation and therapeutic intervention is needed.
More frequent evaluation of the GI tract is suggested after age 50, as most malignancies occur at that time
Associated Intussusception/obstruction, bleeding to be treated promptly.
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