Peutz-Jeghers syndromeSTK11Peutz-Jeghers syndrome is an autosomal dominant condition leading to gastrointestinal polyps which often causes bowel obstruction. This syndrome also predisposes to gastrointestinal, pancreatic, breast, uterine and other malignancies. Prognosis is likely to be improved by the ...
The meaning of PEUTZ-JEGHERS SYNDROME is a familial polyposis inherited as an autosomal dominant trait and characterized by numerous polyps in the stomach, small intestine, and colon and by melanin-containing spots on the skin and mucous membranes especi
Peutz-Jeghers syndrome is autosomal dominant, meaning that the mutation that causes it is not on one of the sex-linked chromosomes (X and Y) and that one copy of the defective gene, received from either parent, is enough to cause the disorder. The genetic defect can also arise in someone...
Peutz-Jeghers综合征(Peutz-Jeghers syndrome, PJS)是一种由LKB1/STK11胚系突变引起的、以皮肤黏膜黑斑和胃肠道错构瘤息肉为特征的常染色体显性遗传病[1-3]. 黑斑一般无需特殊治疗; 而胃肠道息肉可继发出血、梗阻、肠套叠、恶变等多种严重并发症, 且具有发病年龄早、诊治困难、病程迁延的特点[4-6]. 对患者及其...
Peutz-Jeghers syndrome(PJS) is an autosomal dominant disease which is characterized by melanin spots on lips and buccal mucosa, and multiple gastrointestinal hamartomatous polyps. Patients are at risk of forming carcinomas in the gastrointestinal tract, uterus, ovary, breast and other organs. The LK...
Peutz-Jeghers Syndrome - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the Merck Manuals - Medical Professional Version.
Peutz-Jeghers (PJ) syndrome is an autosomal-dominant disorder characterized by melanocytic macules of the lips, multiple gastrointestinal hamartomatous pol... DE Jenne - 《Nature Genetics》 被引量: 3179发表: 1998年 Very high risk of cancer in familial Peutz-Jeghers syndrome. Background & Aims:...
Peutz-Jeghers Syndrome is an autosomal dominant syndrome characterized by hamartomatous gastrointestinal polyps and mucocutaneous melanin pigmentation. Patients are also at risk for extraintestinal neoplasms. In this chapter, the clinicopathologic characteristics of the syndrome, its management and surveillance ...
Peutz–Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by hamartomatous gastrointestinal polyps along with the characteristic mucocutaneous freckling. Multiple surgeries for recurrent intussusception in these children may lead to short bowel syndrome. Here we present our experience of ...
Synonym(s) None Definition Hereditary syndrome characterized by multiple gastrointestinal polyps and mucocutaneous pigmentation Pathogenesis Autosomal dominant trait; germline mutation of STK11 (serine threonine kinase 11) gene; protein likely regulated by phosphorylation by cAMP -dependent protein kinase A ...