Peutz Jeghers syndrome-all are true EXCEPT: March 2013
**Question:** Peutz Jeghers syndrome-all are true EXCEPT: March 2013
**Core Concept:** Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant disorder characterized by the presence of mucocutaneous pigmentation (stigmata) and hamartomatous polyps in the gastrointestinal tract, predisposing to gastrointestinal malignancies.
**Why the Correct Answer is Right:** March 2013 is not mentioned as one of the core features or complications of PJS. The correct answer focuses on the key aspects of the syndrome: mucocutaneous pigmentation, gastrointestinal polyps, and the increased risk of gastrointestinal malignancies.
**Why Each Wrong Option is Incorrect:**
A. **Option A:** This option is incorrect because gastrointestinal bleeding is a common complication of Peutz-Jeghers syndrome due to the presence of hamartomatous polyps.
B. **Option B:** While mucocutaneous pigmentation is a key feature of PJS, "malabsorption" is not specifically mentioned as a hallmark of the syndrome.
C. **Option C:** Peutz-Jeghers syndrome is associated with an increased risk of gastrointestinal malignancies, including gastrointestinal stromal tumors (GISTs), but the specific mention of "colorectal cancer" is not a core feature or complication of the syndrome.
D. **Option D:** Peutz-Jeghers syndrome is characterized by the presence of hamartomatous polyps in the gastrointestinal tract, which can lead to gastrointestinal bleeding, malabsorption, and gastrointestinal malignancies.
**Clinical Pearl / High-Yield Fact:** Peutz-Jeghers syndrome is an important diagnosis to consider in patients with mucocutaneous pigmentation, gastrointestinal bleeding, or gastrointestinal malignancies, particularly in the context of a family history or suggestive physical findings. Gastrointestinal polyps are a key finding in this syndrome, and patients may experience complications such as gastrointestinal bleeding, malabsorption, and an increased risk of gastrointestinal malignancies, including GISTs.
**Correct Answer:** March 2013 is not a core feature or complication of Peutz-Jeghers syndrome. The correct answer focuses on the key aspects of the syndrome: mucocutaneous pigmentation, gastrointestinal polyps, gastrointestinal bleeding, malabsorption, and an increased risk of gastrointestinal malignancies, including gastrointestinal stromal tumors (GISTs).