Tumor-induced osteomalacia in association with PTEN-negative Cowden syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Osteoporosis International"
DOI: 10.1007/s00198-017-4372-x
Abstract: Tumor-induced osteomalacia (TIO) is a rare paraneoplastic condition in which phosphaturic mesenchymal tumors (PMTs) secrete high levels of fibroblast growth factor 23 (FGF23) into the circulation. This results in renal phosphate wasting, hypophosphatemia, muscle weakness,… read more here.
Keywords: cowden syndrome; tumor induced; tio; induced osteomalacia ... See more keywords
Orofacial Manifestations Assisting the Diagnosis of Cowden Syndrome in a Middle-Aged Patient: Case Report and Literature Overview
Sign Up to like & getrecommendations! Published in 2021 at "Head and Neck Pathology"
DOI: 10.1007/s12105-021-01345-1
Abstract: Middle-aged and old adults (≥ 50 years) diagnosed with Cowden syndrome (CS) with orofacial manifestations are uncommon. We describe a case of CS in a 53-year-old female showing “narrow bird-like” face, macrocephaly, acral keratoses, oral candidiasis,… read more here.
Keywords: orofacial manifestations; diagnosis; cowden syndrome; case ... See more keywords
Revised Danish guidelines for the cancer surveillance of patients with Cowden Syndrome.
Sign Up to like & getrecommendations! Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103873
Abstract: INTRODUCTION Cowden syndrome is a cancer predisposition syndrome caused by pathogenic variants in PTEN. The affected patients possess an increased risk of breast, thyroid, renal, colorectal, endometrial cancers as well as malignant melanoma. Thus prophylactic… read more here.
Keywords: management guidelines; patients cowden; surveillance; cowden syndrome ... See more keywords
COWDEN'S SYNDROME DIAGNOSED BY ORAL LESIONS: CASE REPORT AND REVIEW OF THE LITERATURE
Sign Up to like & getrecommendations! Published in 2019 at "Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology"
DOI: 10.1016/j.oooo.2019.02.095
Abstract: Cowden's syndrome (CS), also known as multiple hamartoma syndrome, is a rare genodermatosis of autosomal dominant inheritance and variable phenotype. Its origin is a PTEN (phosphatase and tensin homologue) gene mutation, resulting in the development… read more here.
Keywords: cowden syndrome; pathology; report; case ... See more keywords
Bilateral Recurrent Dysplastic Cerebellar Gangliocytoma (Lhermitte Duclos Disease) in Cowden Syndrome: A Case Report and Literature Review.
Sign Up to like & getrecommendations! Published in 2019 at "World neurosurgery"
DOI: 10.1016/j.wneu.2019.03.131
Abstract: BACKGROUND Dysplastic gangliocytoma (Lhermitte-Duclos disease, LDD) typically presents as a PTEN-positive, insidious unilateral mass of the cerebellar cortex. Patients may present with symptoms of increased intracranial pressure. MRI reveals a characteristic laminar/tigroid appearance. Surgical management… read more here.
Keywords: duclos disease; lhermitte duclos; cowden syndrome;
Diagnosis and management of an endometrial cancer patient with Cowden syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Gynecologic oncology"
DOI: 10.1016/j.ygyno.2021.08.008
Abstract: Somatic PTEN alterations are common in endometrial carcinoma (EC), but in rare cases PTEN mutations are associated with inherited syndromes. Here, we present a case of Cowden syndrome-associated EC. We discuss clinical, pathologic and molecular… read more here.
Keywords: patient cowden; diagnosis management; cowden syndrome; endometrial cancer ... See more keywords
Clinical and genetic diagnosis of Cowden syndrome: A case report of a rare PTEN germline variant and diverse clinical presentation
Sign Up to like & getrecommendations! Published in 2023 at "Medicine"
DOI: 10.1097/md.0000000000032572
Abstract: Introduction: Cowden syndrome is a rare autosomal dominant disease characterized by the development of hamartomas and increased risks of other tumors, including breast, thyroid, and uterine cancers. Most patients with Cowden syndrome show mutations of… read more here.
Keywords: clinical genetic; syndrome; case; cowden syndrome ... See more keywords
Lhermitte-Duclos Disease Related With Cowden Syndrome Mimicking Metastatic Lung Cancer on FDG PET/CT.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical nuclear medicine"
DOI: 10.1097/rlu.0000000000004382
Abstract: ABSTRACT Cowden syndrome is characterized by multiple hamartomatous and neoplastic lesions including Lhermitte-Duclos disease, which is the main criterion for the diagnosis. Herein, we presented a patient with suspected metastatic disease referred to PET/CT, which… read more here.
Keywords: syndrome; duclos disease; lhermitte duclos; cowden syndrome ... See more keywords
Multiple sclerotic fibromas of the skin: an important clue for the diagnosis of Cowden syndrome
Sign Up to like & getrecommendations! Published in 2017 at "BMJ Case Reports"
DOI: 10.1136/bcr-2017-221695
Abstract: Cowden syndrome is a rare autosomal dominant condition characterised by mucocutaneous hamartomas and, most importantly, predisposition to various extracutaneous benign and malignant tumours. This disorder is associated with a germline mutation in the phosphatase and… read more here.
Keywords: sclerotic fibromas; diagnosis; skin; cowden syndrome ... See more keywords
Left atrial cavernous haemangioma presenting with cardiac tamponade in a patient with Cowden syndrome
Sign Up to like & getrecommendations! Published in 2019 at "BMJ Case Reports"
DOI: 10.1136/bcr-2019-229741
Abstract: Cowden syndrome (CS) is a rare disorder characterised by multiple non-cancerous, tumour-like growths called hamartomas. The syndrome is associated with the development of cancer of the breast, endometrium, kidneys, skin and rarely the brain. We… read more here.
Keywords: cowden syndrome; haemangioma; syndrome; cavernous haemangioma ... See more keywords
Neuroimaging abnormalities in patients with Cowden syndrome: Retrospective single-center study
Sign Up to like & getrecommendations! Published in 2018 at "Neurology: Clinical Practice"
DOI: 10.1212/cpj.0000000000000463
Abstract: Background We retrospectively reviewed the neuroimaging findings of patients with Cowden syndrome and determined their frequency in a single cohort. Methods Electronic medical records were queried from January 1999 to January 2017 to identify patients… read more here.
Keywords: neuroimaging abnormalities; patients cowden; cowden syndrome; retrospective single ... See more keywords