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NBME 16 Answers

nbme16/Block 3/Question#49 (reveal difficulty score)
A 25-year-old man is brought to the emergency ...
Peutz-Jeghers ๐Ÿ” / ๐Ÿ“บ / ๐ŸŒณ / ๐Ÿ“–
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submitted by โˆ—cassdawg(1779)
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Peutz-Jeghers syndrome is an autosomal dominant syndrome associated with hyperpigmented macules on the mouth, lips, hands, and genetalia as well as increased risk of breast and GI cancers. [FA2020 p387]

This patient presents with the characteristic hyperpigmented macules as well as positive occult blood test which could be indicative of an underlying GI malignancy. Peutz-Jeghers is also associated with numerous hamartomas throughout the GI tract which could be associated with the patient's general GI symptoms due to their ability to cause blockage.

Other answers:

  • Cowden disease - multiple hamartoma syndrome that increases risk of breast, thyroid, uterine, and other cancers; it is not associated with the hyperpigmented macules
  • Gardner syndrome - familial adenomatous polyposis + osseous and soft tissue tumors
  • Muir-Torre syndrome - rare hereditary autosomal dominant cancer syndrome thought to be a subtype of HNPCC (Lynch syndrome)
  • Neurofibromatosis - not associated with GI issues and typically have a very different presentation (FA2020 p525) - NF1 = cafe-au-lait spots, lisch nodules, pheochromocytoma, seizures, cutaneous neurofibromas, etc.; NF2 = bilateral vestibular schwannomas, juvenille cateracts, meningiomas, ependymomas
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cheesetouch  FA18 p 381. Great answer cassdawg! +



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