The paper describes a case of a 21-year-old woman admitted to the Department of Internal Medicine with signs and symptoms of microcytic anemia. The presence of characteristic skin lesions, results of laboratory tests and positive family history led to the diagnosis of a rare colonic polyposis, Peutz-Jeghers syndrome. The article presents also history, symptomatology, recommended tests and treat...

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.

▼ BENIGN “VIRUS-INDUCED” TUMORS (ORAL SQUAMOUS PAPILLOMAS AND WARTS) ▼ SYNDROMES WITH BENIGN ORAL NEOPLASTIC OR HAMARTOMATOUS COMPONENTS Von Recklinghausen’s Neurofibromatosis Gardner’s Syndrome Peutz-Jeghers Syndrome Nevoid Basal Cell Carcinoma Syndrome Multiple Endocrine Neoplasia Type III (Multiple Mucosal Neuroma Syndrome) Tuberous Sclerosis Acanthosis Nigricans Albright’s Syndrome Paget’s ...

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...

Studies of hereditary cancer syndromes have contributed greatly to our understanding of molecular events involved in tumor genesis. One such syndrome of our interest is Peutz-Jeghers Syndrome, a hereditary disease, in which there is predisposition to benign and malignant tumors of many organ systems. Here, we investigate the genes responsible for the Peutz-Jeghers syndrome (PJS) and the pathway...

Peutz-Jeghers syndrome (PJS, MIM 175,2000) is a disease of autosomal dominant inheritance that is characterised by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. In addition to problems such as intussusception, PJS predisposes to cancers of several sites. The unusual combination of clinical features makes the identification of the defect underlying PJS particularly intere...

the peutz-jeghers syndrome is characterized by an association of gastrointestinal polyposis with rnelain spots on oral mucosa, lips, and skin. this symdrorne is inherited as a simple mendelian autosomal dominant trait. intussusception is by far the most common complication. although these polyps are widely regarded as hamartomas and rarely undergo malignant change, they have been reported to be...

Peutz-Jeghers syndrome is a rare, autosomal dominant inherited disorder, which is characterized by mucocutaneous pigmentations, gastrointestinal polyposis and an increased risk of cancer. It is caused by germline mutations in the LKB1 tumour suppressor gene, as a result of which hamartomatous polyps can develop already at an early age, which may cause various complications, including abdominal ...