Shah Jamil, Sunkara Tagore, Xiao Philip, Gaduputi Vinaya, Reddy Madhavi, Razia Sultana
Division of Gastroenterology & Hepatology, The Brooklyn Hospital Center, 121 Dekalb Ave, Brooklyn, NY 11201, USA.
Division of Pathiology, The Brooklyn Hospital Center, 121 Dekalb Ave, Brooklyn, NY 11201, USA.
Gastroenterology Res. 2018 Apr;11(2):150-153. doi: 10.14740/gr964e. Epub 2018 Apr 7.
Peutz-Jeghers syndrome is an autosomal dominant inherited medical condition characterized by hyperpigmented mucocutaneous macules, hamartomatous polyps in the digestive tract, and with a greater risk of gastrointestinal and non-gastrointestinal cancers. In fact, without appropriate medical surveillance, the lifetime risk for all cancers combined may be as high as 93%. The syndrome is rare, with estimates of incidence varying between 1 in 8,300 and 1 in 280,000 live births. Infrequently, individuals present for the first time with bowel obstruction secondary to intussusception. Here, we present an interesting case of a young Burmese man who, early on, showed traits of Peutz-Jeghers syndrome, including the characteristic hyperpigmented areas on the fingers and lips. Unfortunately, the diagnosis was not made until he later developed bowel obstruction caused by an intussusception, requiring exploratory laparoscopic bowel resection. A high index of suspicion is needed to diagnose accurately. However, early identification and close surveillance can lead to excellent prognosis in these individuals.
黑斑息肉综合征是一种常染色体显性遗传疾病，其特征为皮肤黏膜色素沉着斑、消化道错构瘤性息肉，且患胃肠道和非胃肠道癌症的风险更高。事实上，若没有适当的医学监测，所有癌症的终生综合风险可能高达93%。该综合征较为罕见，估计发病率在每8300例活产儿中有1例至每280000例活产儿中有1例之间。很少有患者首次就诊时因肠套叠继发肠梗阻。在此，我们介绍一例有趣的年轻缅甸男性病例，他早期表现出黑斑息肉综合征的特征，包括手指和嘴唇上的特征性色素沉着区域。不幸的是，直到他后来因肠套叠导致肠梗阻，需要进行腹腔镜探查性肠切除时才得以确诊。准确诊断需要高度的怀疑指数。然而，早期识别和密切监测可使这些患者获得良好的预后。
