Lozano A, Valencia V, Zevallos M, Contreras R, Vargas G, Verona R
Hospital A. Loayza.
Rev Gastroenterol Peru. 1996 Jan-Apr;16(1):72-6.
The Peutz-Jeghers syndrome is a rare dominant autosomic, entity characterized by hyperpigmented lesions on the lips, hands and feet; with presence of gastrointestinal polyps producing acute or chronic anemia, intestinal obstruction, and/or abdominal pain. This polyps histologically are hamartomas; recent studies indicate a real risk for transformations in the malignant neoplasia. The high and low endoscopies and the intraoperative enteroscopy with polypectomy are the election treatment, improving prognosis quality on these patients. We describe a familiar case of a female patient 24 years old showing a repeated picture of intestinal subocclusion; her brother presented a similar clinical picture, and her mother presented the same syndrome, dying of carcinoma in the colon; also her child, at one and a half year old presented hyperpigmented lesions on the lips.
黑斑息肉综合征是一种罕见的常染色体显性遗传病,其特征为嘴唇、手部和足部出现色素沉着病变;伴有胃肠道息肉,可导致急性或慢性贫血、肠梗阻和/或腹痛。这些息肉在组织学上为错构瘤;最近的研究表明,它们有恶变的真正风险。高位和低位内镜检查以及术中肠镜息肉切除术是首选治疗方法,可改善这些患者的预后质量。我们描述了一个24岁女性患者的家族病例,该患者反复出现肠道不完全梗阻;她的哥哥有类似的临床表现,她的母亲也患有相同的综合征,死于结肠癌;她一岁半的孩子嘴唇上也有色素沉着病变。