Sökmen Haci Mehmet, Ince Ali Tüzün, Bölükbaş Cengiz, Kiliç Güray, Dalay Remzi, Kurdaş Oya Ovünç
Gastroenterology Clinic, Haydarpasa Numune Education and Training Hospital, Istanbul, Turkey.
Turk J Gastroenterol. 2003 Mar;14(1):78-82.
Peutz-Jeghers syndrome is an autosomal dominantly inherited rare syndrome characterized by mucocutaneous pigmentations, with intestinal and extraintestinal polyps. It is accepted to be a precancerous syndrome. The polyps can cause anemia and intestinal obstruction and intussuception. We present a young patient admitted to our clinic with a history of recent gastrointestinal bleeding. Upper and lower gastrointestinal endoscopic examinations revealed multiple polyps located in the stomach, jejunum, rectum and terminal ileum. In addition, there were many mucocutaneous pigmentations on the lips, buccal mucosa and finger and toe nails. Jejunal polyps were found to be the cause of jejuno-jejunal invagination and iron deficiency anemia. Histopathological evaluation of the polyps revealed hamartomatous polyps of Peutz-Jeghers syndrome and this diagnosis was supported by a dermatology specialist. It is suggested that any patient presenting with ileus attacks and findings of anemia should be investigated for polyps and mucocutaneous pigmentations of the precancerous Peutz-Jeghers syndrome.
黑斑息肉综合征是一种常染色体显性遗传的罕见综合征,其特征为黏膜皮肤色素沉着以及肠道和肠道外息肉。它被认为是一种癌前综合征。息肉可导致贫血、肠梗阻和肠套叠。我们报告一名年轻患者,因近期有胃肠道出血病史入住我院。上消化道和下消化道内镜检查发现胃、空肠、直肠和回肠末端有多个息肉。此外,嘴唇、颊黏膜以及手指和脚趾甲上有许多黏膜皮肤色素沉着。发现空肠息肉是空肠-空肠套叠和缺铁性贫血的病因。息肉的组织病理学评估显示为黑斑息肉综合征的错构瘤性息肉,这一诊断得到了皮肤科专家的支持。建议对任何出现肠梗阻发作和贫血症状的患者进行检查,以排查癌前黑斑息肉综合征的息肉和黏膜皮肤色素沉着情况。