【蝦皮:教育學程考題彙編】評論

黑斑息肉症候群(Peutz-Jeghers Syndrome)是一種體染色體顯性遺傳病，以口周圍皮膚、唇頰黏膜和指趾末端存在黑色素沉著和消化道存在多發性息肉為特徵，常伴發胃腸道、生殖系統和其他器官的良性或惡性腫瘤。息肉以空腸和回腸為主，容易發生腸套疊而致腸阻塞。患者發生癌變的危險性比普通人群高出12倍，必須注意有無家族史。通常不建議做預防性切除大腸治療。概述

【施隆富】評論

特徵Hamartomas throughout the GI tract (jejunum/ileum > colon > stomach相關癌症風險增加女性 Peutz-Jeghers'，Ovarian cancer (granulosa cell tumor is most common)AD 遺傳其他表徵Melanotic pigmentation (black/brown) of buccal mucosa (mouth), lips, digits, palms, feet (soles) (Think: Peutz = Pigmented)治療Removal of polyps, if symptomatic (i.e., bleeding, intussusception, or obstruction) or large (>1.5 cm)Juvenile polypsBenign hamartomas in the small bowel and colon; not premalignant (a.k.a. "retention polyps")Cronkhite-Canada syndromeDiffuse GI hamartoma polyps (i.e., no cancer potential) associated with malabsorption/weight loss, diarrhea, and loss of electrolytes/protein; signs include alopecia, nail atrophy, skin pigmentationTurcot's syndromeColon polyps with malignant CNS tumors (glioblastoma multiforme)stomach)