INTRODUCTION Peutz-Jeghers syndrome is an autosomal dominant disease with incomplete penetrance and variable expression caused by germline mutation of serine threonine kinase 11/liver kinase B1; it is characterized by hamartomatous polyps in the gastrointestinal tract, mucocutaneous melanin pigmentation, and increased predisposition to neoplasms. In Peutz-Jeghers syndrome, bilateral Sertoli cel...

Introduction Peutz-Jeghers syndrome (PJS) is characterized by: (i) autosomal dominant inheritance; (ii) cutaneous pigmentation; (iii) gastro-intestinal polyposis. In all, more than 300 cases have been described with a world-wide distribution and no racial predilection. In 1921 Peutz described 7 cases of multiple intestinal polyps associated with melanin spots on the lips, buccal mucosa and digi...

1402 CMAJ, September 6, 2011, 183(12) © 2011 Canadian Medical Association or its licensors A60-year-old nonsmoking Chinese woman presented with a 40-year history of progressive blackish pigmentation of her tongue, oral mucosa and lips (Figure 1A; Appendix 1, available at www.cmaj.ca /lookup /suppl/doi:10.1503/cmaj.110211/-/DC1). In addition, she had a 10-year history of longitudinal pigmented b...

Research on the LKB1 tumor suppressor protein mutated in cancer-prone Peutz-Jeghers patients has continued at a feverish pace following exciting developments linking energy metabolism and cancer development. This review summarizes the current state of research on the LKB1 tumor suppressor. The weight of the evidence currently indicates an evolutionary conserved role for the protein in the regul...

INTRODUCTION AND AIMS Peutz-Jeghers syndrome is an autosomal dominant inherited pathology characterized by gastrointestinal hamartomatous polyps, predominantly in the small bowel, and pigmented mucocutaneous lesions. Guidelines suggest polypectomy with a balloon-assisted enteroscope when polyps are larger than 10mm. Complications in adults can be as high as 6.8%, but there is little information...

Laugier-Hunziker syndrome is characterized by idiopathic mucocutaneous pigmentation that may be associated with longitudinal melanonychia. The significance of this condition is due to its inclusion in differential diagnoses of pigmentary disorders of the oral mucosa, especially Peutz-Jeghers syndrome.

The Peutz Jeghers syndrome (PJS) is an autosomal dominant disorder which is characterised by hamartomatous polyposes of the gastrointestinal tract, melanin pigmentation of the skin and mucous membranes, and an increased risk for cancer. We are reporting a case of a 15-year-old male with Peutz Jeghers syndrome, who presented to us with features of chronic intestinal obstruction and anaemia. Init...