Hamartomatous polyposis syndromes

Abstract

Hamartomatous polyposis syndromes are a diverse group of inherited conditions grouped together because they exhibit hamartomatous rather than epithelial polyp histology. Each syndrome exhibits characteristic polyp histology, gastrointestinal polyp distribution, gastrointestinal cancer risks, extraintestinal benign findings and often extra-intestinal cancer risks. Identifying individuals at risk for these syndromes and accurately defining the precise diagnosis is necessary for planning surveillance and management in order to prevent the benign and malignant complications. Characteristic syndrome features including gastrointestinal findings, pathology, genetics, and management options for the three most common hamartomatous polyposis syndromes, Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, and juvenile polyposis will be presented in this review.

Polyposis deserves a perfect physical examination for final diagnosis: Bannayan-Riley-Ruvalcaba syndrome

“…Marsh et al 6 reported that approximately 60% of patients with BRRS are reported to have mutations in PTEN gene, which functions as a tumor suppressor gene and is located on chromosome 10q22-q23 [4][5][6] . Mutations in PTEN gene, controlling cellular proliferation, migration, and apoptosis, result in overgrowth syndrome and malignity (PTEN hamartoma tumor syndromes) in BRRS together with allelic CS.…”

“…Polyps may be seen throughout the gastrointestinal tract but mostly in the distal ileum and colon 8 . Gastrointestinal polyps in BRRS are frequently symptomatic and may present with anemia, chronic diarrhea and small bowel invagination 4,11 . Benign tumors of BRRS may grow rapidly and tend not to show spontaneous resolution 12 .…”

“…The terminology of 'BRRS' was firstly expressed in 1992 to describe three phenotypically similar but previously different denominated syndromes 3,4 . Hallmark manifestations of BRRS are macrocephaly, developmental delay or intellectual disability, subcutaneous and visceral lipomatosis, hemangiomatosis, gastrointestinal polyposis and pigmented macules on glans penis/genitalia [3][4][5] . Herein, a patient with gastrointestinal polyposis who had a genetically confirmed diagnosis of BRRS is presented.…”

Angular cheilitis and oral pigmentation as early detection of Peutz-Jeghers syndrome

“…This causes depapilation of the tongue in patients, a condition often occurring in individuals suffering from a deficiency of vitamin B12, folate, and iron. [12][13][14] The therapy used to treat angular cheilitis consists of the topical application of Miconazole gel four times a day for two weeks. Supplements are administered orally as a maintenance dose once a day for a month.…”

“…The patient was referred to an internist for treatment of digestive disorders. 13,14 Patients with PJS are at greater risk of developing gastrointestinal and non-gastrointestinal malignancies. Other non-gastrointestinal sites of malignancy include: the pancreas, lung, breast, uterus, cervix, ovary, testis and thyroid.…”