نتایج جستجو برای: hamartomatous

تعداد نتایج: 561  

2014
Xinying Shen Michael Husson William Lipshutz

Cronkhite-Canada syndrome (CCS) is a rare, non-inherited polyposis syndrome, characterized by diffuse gastrointestinal (GI) hamartomatous polyposis with unique dermatologic changes including alopecia, skin hyperpigmentation, and nail dystrophy. Patients can typically present with diarrhea, weight loss, protein-losing enteropathy, and nutritional deficiency. However, it can demonstrate diverse o...

2016
Rajesh Parameshwaran Nair Vinod Kumar Bhavna Nayal

Background: Lhermitte-Duclos is a rare hamartomatous lesion of the cerebellar cortex with both neoplastic and hamartomatous features. Also known as dysplastic cerebellar gangliocytoma, they usually occur in the setting of Cowden’s syndrome, an autosomal dominant condition characterized by multiple hamartomas and neoplastic lesions in skin and internal organs. Although enlargement of the interna...

Journal: :Cancer research 2007
Kristine D Scott Suchita Nath-Sain Meghan D Agnew Paola A Marignani

Mutations in the serine-threonine tumor-suppressor kinase LKB1 are responsible for Peutz-Jeghers syndrome, characterized by hamartomatous proliferation and an increased risk of developing cancer. Mutations in lkb1 have also been identified in sporadic cancers, suggesting a wider role for LKB1 in cancer that is not limited to hamartomatous polyposis syndromes. Here, we show that LKB1 catalytical...

Journal: :Indian Journal of Otolaryngology and Head & Neck Surgery 2017

Introduction: Hamartomatous Polyposis Syndromes (HPS) are a rare group of dominant autosomal inheritance, which is characterized by the development of hamartomatous polyps in the gastrointestinal tract.  This syndrome included Juvenile Polyposis syndrome (JPS), Peutz-Jeghers syndrome (PJS), and PTEN Hamartoma Tumour Syndrome (PHTS). PTEN Hamartoma Tumour Syndrome (PHTS) itself includes Cowden ...

Journal: :Koloproktologiâ 2021

Peutz-Jeghers syndrome (PJS) is an extremely rare autosomal dominant hereditary disease characterized by the growth of hamartomatous polyps in gastrointestinal tract, mucocutaneous pigmented macules and increased risk malignant neoplasms various localizations. In most cases development PJS associated with presence a mutation STK11 gene, but not all patients have this mutation. This review prese...

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