Literature DB >> 23638235

Peutz-Jeghers syndrome and family survey: a case report.

Yongjian Li1, Qinghai Zeng, Zhiling Liao, Guiying Zhang, Rong Xiao, Haiquan Wen.   

Abstract

Peutz-Jeghers syndrome (PJS) is a rare inherited autosomal dominant disease characterized by mucocutaneous pigmentation and multiple polyps in the gastrointestinal tract. We report on an 18-year-old Chinese male who complained with pigmentation on face and extremities for over 10 years. Colonoscopy revealed more than ten polyps from transverse colon to rectum. The family survey included 15 family members from three generations, and 6 PJSs (4 males and 2 females) were found. This case is reported because of its rarity of Peutz-Jeghers syndrome and the survey of family history.

Entities:  

Keywords:  Peutz-Jeghers syndrome; family survey

Mesh：

Year:  2013        PMID： 23638235      PMCID： PMC3638114     

Source DB:  PubMed          Journal:  Int J Clin Exp Pathol        ISSN： 1936-2625


  6 in total

1.  Jejunal carcinoma in a patient with Peutz-Jeghers syndrome.

Authors:  Namita Sinha; Uttara Chatterjee; Shanti Sarkar
Journal:  Can J Surg       Date:  2009-12       Impact factor: 2.089

2.  Peutz-Jeghers syndrome: a systematic review and recommendations for management.

Authors:  A D Beggs; A R Latchford; H F A Vasen; G Moslein; A Alonso; S Aretz; L Bertario; I Blanco; S Bülow; J Burn; G Capella; C Colas; W Friedl; P Møller; F J Hes; H Järvinen; J-P Mecklin; F M Nagengast; Y Parc; R K S Phillips; W Hyer; M Ponz de Leon; L Renkonen-Sinisalo; J R Sampson; A Stormorken; S Tejpar; H J W Thomas; J T Wijnen; S K Clark; S V Hodgson
Journal:  Gut       Date:  2010-07       Impact factor: 23.059

3.  A serine/threonine kinase gene defective in Peutz-Jeghers syndrome.

Authors:  A Hemminki; D Markie; I Tomlinson; E Avizienyte; S Roth; A Loukola; G Bignell; W Warren; M Aminoff; P Höglund; H Järvinen; P Kristo; K Pelin; M Ridanpää; R Salovaara; T Toro; W Bodmer; S Olschwang; A S Olsen; M R Stratton; A de la Chapelle; L A Aaltonen
Journal:  Nature       Date:  1998-01-08       Impact factor: 49.962

4.  Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase.

Authors:  D E Jenne; H Reimann; J Nezu; W Friedel; S Loff; R Jeschke; O Müller; W Back; M Zimmer
Journal:  Nat Genet       Date:  1998-01       Impact factor: 38.330

Review 5.  Peutz-Jeghers syndrome: diagnostic and therapeutic approach.

Authors:  Marcela Kopacova; Ilja Tacheci; Stanislav Rejchrt; Jan Bures
Journal:  World J Gastroenterol       Date:  2009-11-21       Impact factor: 5.742

6.  High prevalence of germline STK11 mutations in Hungarian Peutz-Jeghers Syndrome patients.

Authors:  Janos Papp; Marietta Eva Kovacs; Szilvia Solyom; Miklos Kasler; Anne-Lise Børresen-Dale; Edith Olah
Journal:  BMC Med Genet       Date:  2010-11-30       Impact factor: 2.103
  6 in total
  2 in total

1.  P16-positive continuous minimal deviation adenocarcinoma and gastric type adenocarcinoma in a patient with Peutz-Jeghers syndrome.

Authors:  Wei-Xia Peng; Shoko Kure; Kousuke Ishino; Keisuke Kurose; Koichi Yoneyama; Ryuichi Wada; Zenya Naito
Journal:  Int J Clin Exp Pathol       Date:  2015-05-01

2.  Seven-Year Follow-Up of Peutz-Jeghers Syndrome.

Authors:  Hamid Reza Mozaffari; Fetemeh Rezaei; Roohollah Sharifi; S Ghasem Mirbahari
Journal:  Case Rep Dent       Date:  2016-04-18
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.