1,958 results match your criteria Cowden Disease Multiple Hamartoma Syndrome

[Pyogenic granuloma in small intestine associated with Cowden's disease in a patient with gastrointestinal bleeding:a case report].

Nihon Shokakibyo Gakkai Zasshi 2021 ;118(5):462-472

Department of Internal Medicine II, Shimane University.

A 57-year-old female with a history of Cowden's disease was referred to our hospital because of black stool, loss of consciousness, and severe anemia. Upper and lower gastrointestinal endoscopy findings could not confirm the source of hemorrhage. Capsule endoscopy (CE) of the small intestine showed an active exudative hemorrhagic site near the ileum, although a definitive diagnosis was difficult. Read More

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Small Bowel Epithelial Precursor Lesions: A Focus on Molecular Alterations.

Int J Mol Sci 2021 Apr 22;22(9). Epub 2021 Apr 22.

Department of Internal Medicine, University of Pavia and Fondazione IRCCS San Matteo Hospital, 27100 Pavia, Lombardy, Italy.

The wider use of gastrointestinal endoscopic procedures has led to an increased detection of small intestinal preneoplastic and neoplastic epithelial lesions, most of which are identified in the duodenum and ampullary region. Like their malignant counterparts, small intestinal glandular precursor lesions, which include adenomas and hamartomas, may arise sporadically or be associated with hereditary tumor syndromes, such as familial adenomatous polyposis, -associated polyposis, Lynch syndrome, Peutz-Jeghers syndrome, juvenile polyposis syndrome, and Cowden syndrome. In addition, dysplastic, preinvasive lesions have been observed adjacent to small bowel adenocarcinomas complicating immune-related disorders, such as celiac or Crohn's disease. Read More

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Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature.

Hormones (Athens) 2021 Apr 20. Epub 2021 Apr 20.

Division of Pediatrics, S. Chiara General Hospital, Largo Medaglie d'oro, 9, 38122, Trento, Italy.

Introduction: The PI3K/AKT/mTOR signaling pathway is important for the regulation of multiple biological processes, including cellular growth and glucose metabolism. Defects of the PI3K/AKT/mTOR signaling pathway are not usually considered among the genetic causes of recurrent hypoglycemia in childhood. However, accumulating evidence links hypoglycemia with defects of this pathway. Read More

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A systematic review of stereotactic radiofrequency ablation for hypothalamic hamartomas.

J Neurol Sci 2021 May 27;424:117428. Epub 2021 Mar 27.

Departments of Neurosurgery, Los Angeles (UCLA), Los Angeles, CA, United States; Departments of Radiation Oncology, Los Angeles (UCLA), Los Angeles, CA, United States; Departments of Head and Neck Surgery, Los Angeles (UCLA), Los Angeles, CA, United States; Jonsson Comprehensive Cancer Center, Los Angeles (UCLA), Los Angeles, CA, United States; Los Angeles Biomedical Research Institute, Los Angeles (UCLA), Los Angeles, CA, United States; Harbor-UCLA Medical Center, Los Angeles (UCLA), Los Angeles, CA, United States; David Geffen School of Medicine, Los Angeles (UCLA), Los Angeles, CA, United States. Electronic address:

Background: The seizure activity associated with hypothalamic hamartomas (HHs) is refractory to medical management and surgical intervention is often required. Stereotactic Radiofrequency Ablation (SRFA) is a minimally invasive technique offering targeted lesion ablation with a reduced risk of complications.

Objective: Here, we review the current literature on the use of SRFA for HHs. Read More

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Cowden syndrome.

Reena Wadia

Br Dent J 2021 03;230(6):362

Specialist Periodontist at RW Perio and Associate Specialist at King's College Dental Hospital, London, UK.

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[Dysplastic Cerebellar Gangliocytoma(Lhermitte-Duclos Disease)].

No Shinkei Geka 2021 Mar;49(2):395-399

Department of Translational Research, Brain Research Institute, Niigata University.

Dysplastic cerebellar gangliocytoma or Lhermitte-Duclos disease(LDD)is a rare benign cerebellar lesion composed of dysplastic ganglion cells that conform to the existing cortical architecture. In this disease, the enlarged ganglion cells are predominantly located within the internal granular layer, and they thicken the cerebellar folia. The architecture of the affected cerebellar hemisphere with the enlarged cerebellar folia and the cystic changes, in some cases, present as "tiger-striped striations," a characteristic imaging finding that is not specific to LDD. Read More

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Cronkhite-Canada syndrome associated with perianal condyloma acuminatum with malignant transformation: A case report.

Medicine (Baltimore) 2021 Mar;100(10):e25067

Binzhou Medical University Hospital, The Yellow Rive Second Road, Binzhou City, Shandong Province, China.

Rationale: Cronkhite-Canada syndrome (CCS) is a rare non-familial polyposis syndrome characterized by multiple gastrointestinal polyps with the ectodermal triad. To date, many complications of CCS have been reported in the literature, but perianal condyloma acuminatum with malignant transformation has not been included.

Patient Concerns: This report presents the case of a 52-year-old Chinese man who presented with diarrhea, loss of appetite, and weight loss. Read More

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Cowden syndrome: new clinical features in a large family; joint hyperextensibility, dental abnormalities and gingival enlargement.

BMJ Case Rep 2021 Mar 10;14(3). Epub 2021 Mar 10.

Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.

A 4-year-old boy presented with his mother to genetics in the 1980s, with a family history (FH) of macrocephaly and intellectual disability (ID). He remained undiagnosed until his mother developed multiple cancers and was diagnosed with Cowden syndrome (CS) in 2017, a rare, multisystem cancer predisposition syndrome. CS was then confirmed in multiple family members. Read More

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Lhermitte-Duclos disease: A case report and literature review.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2021 Feb;46(2):195-199

Department of Neurosurgery, Xiangya Hospital, Central South University, Changsha 410008.

Lhermitte-Duclos disease (LDD) is a type of rare brain tumor located in posterior fossa. A patient with LDD located in the left cerebellum and vermis was admitted by the Department of Neurosurgery, Xiangya Hospital, Central South University. MRI scan showed slightly heterogeneous enhancement at the region close to vermis. Read More

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February 2021

Miliary fibromas in tuberous sclerosis complex.

J Eur Acad Dermatol Venereol 2021 May 23;35(5):1226-1229. Epub 2021 Feb 23.

Department of Dermatology, Uniformed Services University of the Health Sciences, Bethesda, MD, USA.

Background: Tuberous sclerosis complex (TSC) is a hamartoma syndrome characterized by multiple skin lesions, such as angiofibromas, shagreen patch and miliary fibromas (MiF).

Objective: To determine the clinical and histological features of MiF.

Methods: A retrospective analysis was conducted on 133 adults with TSC. Read More

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Peutz-Jeghers syndrome in a woman presenting as intussusception: A case report.

Int J Surg Case Rep 2021 Feb 18;79:286-290. Epub 2021 Jan 18.

Department of Surgery, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia. Electronic address:

Introduction: Peutz-Jeghers syndrome (PJS) is an uncommon autosomal dominant syndrome with a variable to high penetrance that leads to the development of polyps within the gastrointestinal mucosa. Here we report a case of an adult female suffering jejunoileal intussusception due to PJS.

Presentation Of Case: A 30-year-old woman came to an emergency department with a small bowel obstruction caused by intussusception. Read More

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February 2021

Colorectal polyposis as a clue to the diagnosis of Cowden syndrome: Report of two cases and literature review.

Pathol Res Pract 2021 Feb 8;218:153339. Epub 2021 Jan 8.

Dipartimento di Scienze Mediche e Chirurgiche: Centro di Ricerca sui Tumori Ereditari, Università di Bologna, Italy; UO Genetica Medica, Azienda Ospedaliero-Universitaria di Bologna Policlinico S.Orsola-Malpighi, Bologna, Italy. Electronic address:

Cowden Syndrome (CS) is an autosomal dominant disorder characterized by hamartomatous growth in several organs and by an increased risk of malignancies, which makes its recognition essential to undertake risk reduction measures. Although the involvement of gastrointestinal tract is extremely common, awareness of this entity among gastroenterologists appears limited. We report on two unrelated patients: a 46-year-old male and a 38-year-old woman, who were referred to the Genetic Clinic because of the endoscopic finding of multiple colorectal polyps. Read More

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February 2021

Bariatric Surgery for Cowden Syndrome with PTEN Mutation: a Case Report.

Obes Surg 2021 May 22;31(5):2316-2318. Epub 2021 Jan 22.

Department of Surgery, Seoul National University College of Medicine, Seoul, Republic of Korea.

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Lhermitte-duclos disease (dysplastic cerebellar gangliocytoma): A case report.

J Pak Med Assoc 2020 Dec;70(12(B)):2464-2466

Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore.

Lhermitte-Duclos disease (LDD) is a relatively uncommon condition of the cerebellum. It is generally characterised as a hamartomatous lesion of posterior fossa and is common in the third and fourth decades of life. According to the World Health Organisation, it is classified as a grade I tumour with potential for recurrence. Read More

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December 2020

Reconstruction of multiple defects after excision of multiple basal cell carcinomas.

Dermatol Ther 2021 01 22;34(1):e14686. Epub 2020 Dec 22.

Department of Dermatology, Wenzhou Hospital of Integrated Traditional Chinese and Western Medicine, Wenzhou, China.

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January 2021

Renal Neoplasia in Cowden Syndrome.

Mayo Clin Proc 2020 12;95(12):2808-2809

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

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December 2020

PTEN Hamartoma Tumor Syndrome: A Case of Renal Cell Carcinoma in a Young Female.

Urology 2021 Feb 21;148:113-117. Epub 2020 Nov 21.

Glickman Urological and Kidney Institute, Cleveland Clinic, Cleveland, OH. Electronic address:

PTEN Hamartoma-Tumor-Syndrome (PHTS) describes a series of conditions characterized by germline-mutation of the PTEN tumor-suppressor gene. PHTS patients have an increased lifetime risk of multiple malignancies, including thyroid, breast, and endometrial cancers. PHTS patients also have 20-30 fold increased risk of renal cell carcinoma (RCC) compared to age-matched controls. Read More

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February 2021

A review on age-related cancer risks in PTEN hamartoma tumor syndrome.

Clin Genet 2021 Feb 16;99(2):219-225. Epub 2020 Nov 16.

Department of Human Genetics, Radboud university medical center, Nijmegen, The Netherlands.

Patients with PTEN hamartoma tumor syndrome (PHTS, comprising Cowden, Bannayan-Riley-Ruvalcaba, and Proteus-like syndromes) are at increased risk of developing cancer due to pathogenic PTEN germline variants. This review summarizes age-, sex-, and type-specific malignant cancer risks for PHTS patients, which is urgently needed for clinical management. A PubMed literature search for Standardized Incidence Ratios or Cumulative Lifetime cancer risks (CLTRs) resulted in nine cohort studies comprising four independent PHTS cohorts, including mainly index cases and prevalent cancer cases. Read More

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February 2021

Early-onset renal cell carcinoma in harmatoma tumour syndrome.

NPJ Genom Med 2020 29;5:40. Epub 2020 Sep 29.

Center for Personalized Genetic Healthcare, Cleveland Clinic Community Care and Population Health, Cleveland, OH USA.

Individuals with PTEN hamartoma tumour syndrome (PHTS), including Cowden syndrome (CS), are susceptible to multiple benign hamartomas and an increased risk of cancer, particularly breast, endometrial, and thyroid. As a result, individuals undergo enhanced surveillance for early detection of these cancers. However, less commonly occurring cancers, such as colorectal and kidney, have insufficient guidelines for early detection. Read More

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September 2020

Radiographic Findings of Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease) in a Woman with Cowden Syndrome: A Case Study and Literature Review.

J Radiol Case Rep 2020 Mar 31;14(3):1-6. Epub 2020 Mar 31.

Dept of Radiology, Rush Copley Medical Center, 2000 Ogden Ave, Aurora IL 60504, USA.

The following case report features a middle-aged female patient, previously diagnosed with Cowden syndrome, who presented to the hospital with symptoms of headaches and changes in vision that began with no apparent cause and persisted for almost a month. MRI of the head confirmed a diagnosis of dysplastic cerebellar gangliocytoma, also known as Lhermitte-Duclos disease. This cerebellar tumor, while extremely rare in incidence, is classified as the most common type of brain lesion in adult patients with Cowden syndrome. Read More

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Genodermatoses with malignant potential.

Clin Dermatol 2020 Jul - Aug;38(4):432-454. Epub 2020 Mar 30.

Department of Dermatology, University of Missouri School of Medicine, Columbia, Missouri, USA. Electronic address:

The hereditary nature of some forms of cancer was recognized long ago. Over time, recognition of associated findings led to the delineation of numerous hereditary cancer syndromes. Many of these syndromes also have cutaneous manifestations, the recognition of which can lead to their early identification. Read More

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October 2020

Role of Long-Term Vestibular Rehabilitation in a Patient with Posterior Fossa Tumor: A Case Report with 2 Years of Follow-Up.

Am J Case Rep 2020 Sep 11;21:e924262. Epub 2020 Sep 11.

Department of Audiology, Faculty of Health Sciences, Istanbul Medipol University, Istanbul, Turkey.

BACKGROUND Lhermitte-Duclos disease (LDD) is caused by a rare slow-growing mass in the cerebellum. LDD generally is experienced by young adults, but also it has been encountered in the pediatric population. Lhermitte and Duclos first described cerebellar dysplastic gangliocytoma in 1920. Read More

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September 2020

Prophylactic anticoagulation of individuals with Proteus syndrome and COVID-19.

Am J Med Genet A 2020 12 10;182(12):2829-2831. Epub 2020 Sep 10.

Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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December 2020

Hints from a Female Patient with Breast Cancer Who Later Presented with Cowden Syndrome.

J Breast Cancer 2020 Aug 7;23(4):430-437. Epub 2020 Apr 7.

Department of Medical Laboratory and Biotechnology, Chung Shan Medical University, Taichung, Taiwan.

A 51-year-old woman presented with metachronous tumor development in bilateral breasts, thyroid, and endometrium. Additional signs and symptoms fulfilled the National Comprehensive Cancer Network criteria for Cowden syndrome. Immunohistochemistry showed loss of expression in all tumors. Read More

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Cutaneous Leiomyoma Mimicking a Keloid.

Acta Dermatovenerol Croat 2020 Aug;28(2):116

Emine Boyuk, MD, Department of Dermatology, Eskişehir Osmangazi University,, Faculty of Medicine, Eskişehir, , Turkey;

Dear Editor, Cutaneous leiomyomas (CL) are rare, benign smooth muscle tumors of the skin (1). There are 3 subtypes with different origins and histopathologic features: piloleiomyoma, genital leiomyoma, and angioleiomyoma (2). Pilar leiomyoma is the most common subtype originating from arrector pili muscles of pilosebaceous unit. Read More

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5-aminolevulinic acid photodynamic therapy and excision surgery for nevoid basal cell carcinoma syndrome with multiple basal cell carcinomas and PTCH1 mutation.

Photodiagnosis Photodyn Ther 2020 Dec 21;32:101968. Epub 2020 Aug 21.

Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou, Guangdong Provice, 510095, China. Electronic address:

This report describes a PTCH1 c.1804C > T (p.Arg602*) mutation causing a Chinese nevoid basal cell carcinoma syndrome (NBCCS) with multiple basal cell carcinoma (BCC) phenotype. Read More

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December 2020

Cowden syndrome is a risk factor for multiple neoplasm: a case report.

World J Surg Oncol 2020 Aug 17;18(1):211. Epub 2020 Aug 17.

Faculty of Medicine, University of Porto, Porto, Portugal.

Background: Cowden's syndrome is an autosomal dominant disease with variable penetrance, involving the tumor suppressor phosphatase and tension homolog gene, located on chromosome 10q22-23, responsible for cell proliferation, migration, and cellular apoptosis. Its clinical presentation encompasses mucocutaneous lesions, which are present around 99% of the time; macrocephaly; and cognitive impairment, and it precedes the appearance of neoplasms such as thyroid carcinoma, breast cancer, among others. In addition to these malformations, arteriovenous malformations of the brain and spine, endocrine abnormalities, skeletal defects, and cardiopulmonary lesions may also be found. Read More

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De Novo Cavernoma Formation in a Patient With Cowden Syndrome and Lhermitte-Duclos Disease.

World Neurosurg 2020 11 8;143:308-314. Epub 2020 Aug 8.

Department of Neurosurgery, Royal Preston Hospital, United Kingdom.

Background: Cowden syndrome (CS) is an autosomal dominant genodermatosis with a predisposition for the development of multiple cancers, benign hamartomas, and extracranial vascular malformations. Rarely, intracranial lesions like meningiomas and vascular malformations can also be present with CS. These vascular malformations include developmental venous anomalies, arteriovenous fistulae and cavernomas. Read More

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November 2020

Cerebral MRI and Clinical Findings in Children with Hamartoma Tumor Syndrome: Can Cerebral MRI Scan Help to Establish an Earlier Diagnosis of PHTS in Children?

Cells 2020 07 10;9(7). Epub 2020 Jul 10.

Children's Hospital, University of Bonn, Department of Pediatric Endocrinology and Diabetology, Venusberg-Campus 1, 53127 Bonn, Germany.

Background: Hamartoma Tumor Syndrome (PHTS) is caused by germline autosomal-dominant mutations of the tumor suppressor gene . Subjects harbour an increased risk for tumor development, with thyroid carcinoma occurring in young children. Establishing a diagnosis is challenging, since not all children fulfill diagnostic criteria established for adults. Read More

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