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Cowdens syndrome

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https://www.readbyqxmd.com/read/28329552/diffuse-sebaceous-gland-hyperplasia
#1
Julia Gittler, Lauren Penn, Vitaly Terushkin, Nooshin Brinster
Diffuse sebaceous-gland hyperplasia is a rarevariant of sebaceous-gland hyperplasia that isdistinct from the well-known circumscribed type.The term presenile sebaceous hyperplasia has beenutilized to describe this entity that is distinguishedby specific features, which include confluence oflesions that results in the formation of large plaqueson the face, the sparing of periorificial regions, andhighly functional glandular hyperplasia that resultsin excessive sebaceous secretion. We present a43-year-old woman with monomorphous, skincoloredand yellow, smooth 1- to-3-mm papules,some with central umbilication, that spare theperiorificial zones...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329541/cowden-syndrome-presenting-with-trichilemmomas
#2
Elise Ng, Vitaly Terushkin, Shane A Meehan, Roger Ho, Miriam Keltz Pomeranz
Cowden syndrome (CS) is a genetic cancerpredisposition syndrome that is associated withgermline mutations in the phosphate and tensinhomologue deleted on chromosome ten (PTEN)tumor suppressor gene. It is characterizedby the formation of benign and malignanttumors. Characteristic benign tumors includetrichilemmommas, acral keratoses, mucocutaneousneuromas, and oral papillomas. The most commonmalignant condition include breast, thyroid, andendometrial cancers. We present a case of a30-year-old woman with CS, who initially presentedwith trichilemmomas that were misdiagnosed ascomedonal acne...
December 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28315423/intranodal-meningothelial-proliferation-in-a-patient-with-cowden-syndrome-a-case-report
#3
Andrea Olofson, Jonathan Marotti, Laura J Tafe, Konstantinos Linos
Ectopic meningothelial proliferations are rare and can occur in a multitude of extracranial/spinal anatomic locations. Perineurioma is another uncommon entity that shares similar histological characteristics to those found in meningothelial proliferations. These include bland spindle cells with thin, bipolar nuclei, eosinophilic cytoplasm, and indistinct cell borders, arranged in short fascicles with whorl formation. Given their uncommon occurrence and shared histological and immunohistochemical features, their distinction can present a diagnostic challenge...
March 14, 2017: Human Pathology
https://www.readbyqxmd.com/read/28283772/identification-genetic-testing-and-management-of-hereditary-melanoma
#4
Sancy A Leachman, Olivia M Lucero, Jone E Sampson, Pamela Cassidy, William Bruno, Paola Queirolo, Paola Ghiorzo
Several distinct melanoma syndromes have been defined, and genetic tests are available for the associated causative genes. Guidelines for melanoma genetic testing have been published as an informal "rule of twos and threes," but these guidelines apply to CDKN2A testing and are not intended for the more recently described non-CDKN2A melanoma syndromes. In order to develop an approach for the full spectrum of hereditary melanoma patients, we have separated melanoma syndromes into two types: "melanoma dominant" and "melanoma subordinate...
March 10, 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28251007/a-pediatric-case-of-cowden-syndrome-with-graves-disease
#5
Cláudia Patraquim, Vera Fernandes, Sofia Martins, Ana Antunes, Olinda Marques, José Luís Carvalho, Jorge Correia-Pinto, Carla Meireles, Ana Margarida Ferreira
Cowden syndrome (CS) is a rare dominantly inherited multisystem disorder, characterized by an extraordinary malignant potential. In 80% of cases, the human tumor suppressor gene phosphatase and tensin homolog (PTEN) is mutated. We present a case of a 17-year-old boy with genetically confirmed CS and Graves' disease (GD). At the age of 15, he presented with intention tremor, palpitations, and marked anxiety. On examination, he had macrocephaly, coarse facies, slight prognathism, facial trichilemmomas, abdominal keratoses, leg hemangioma, and a diffusely enlarged thyroid gland...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28185467/appendicopathy-a-report-of-eight-cases
#6
José Ruiz, Antonio Ríos, María Isabel Oviedo, Jose Manuel Rodríguez, Pascual Parrilla
INTRODUCTION: Neurogenic appendicopathy is not a very well-known disease. OBJECTIVE: To analyze the experience in the management of neurogenic appendicopathy in a tertiary hospital, assessing its clinical presentation, histological staging, the treatment carried out and its clinical evolution. METHOD: The study population included patients with histopathological criteria for neurogenic appendicopathy who did not present with MEN 2B syndrome, neurofibromatosis type I or Cowden syndrome...
February 10, 2017: Revista Española de Enfermedades Digestivas
https://www.readbyqxmd.com/read/28164237/cowden-syndrome-associated-germline-succinate-dehydrogenase-complex-subunit-d-sdhd-variants-cause-pten-mediated-down-regulation-of-autophagy-in-thyroid-cancer-cells
#7
Wanfeng Yu, Ying Ni, Motoyasu Saji, Matthew D Ringel, Ritika Jaini, Charis Eng
No abstract text is available yet for this article.
February 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28137902/lhermitte-duclos-disease-associated-to-cowden-syndrome-de-novo-diagnosis-and-management-of-these-extremely-rare-syndromes-in-a-patient
#8
Ivo Gama, Leonor Almeida
A 36-year-old woman, with history of cutaneous papilomatosis and thyroid carcinoma presented with headache, transitory visual blurring and nausea. Funduscopy showed papilloedema. MRI showed a tumour of the right cerebellar hemisphere with a striated, tigroid pattern, typical of Lhermitte-Duclos disease (LDD). Significant clinical and perimetric improvements were noted after surgery and the follow-up did not reveal recurrences of the tumour. LDD is an extremely rare differential diagnosis of posterior fossa tumours...
January 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28110467/an-overview-of-autosomal-dominant-tumour-syndromes-with-prominent-features-in-the-oral-and-maxillofacial-region
#9
REVIEW
Robert A Kennedy, Selvam Thavaraj, Salvador Diaz-Cano
Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome)...
January 21, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28074344/multiple-oral-mucosal-hamartomas-in-a-34-year-old-female
#10
Jeffrey A Elo, Ho-Hyun Sun, Joel M Laudenbach, Hardev M Singh
A case of Cowden syndrome (CS) is described in a 34-year-old African American female who reported a history of breast and thyroid malignancies. Clinical examination demonstrated multiple soft, white-pink papules across multiple mucosal surfaces of the oral cavity. Microscopy of the lesions revealed hyperkeratotic surface squamous epithelium with papillomatosis and acanthosis along with elongated rete processes. A genomic polymerase chain reaction direct sequencing using the patient's blood was positive for mutations of the PTEN gene typical of CS...
January 10, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28013114/diffuse-esophageal-glycogenic-acanthosis-and-colon-polyposis-in-a-patient-with-cowden-syndrome
#11
Rohan M Modi, Christina A Arnold, Peter P Stanich
No abstract text is available yet for this article.
December 21, 2016: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28011713/germline-compound-heterozygous-poly-glutamine-deletion-in-usf3-may-be-involved-in-predisposition-to-heritable-and-sporadic-epithelial-thyroid-carcinoma
#12
Ying Ni, Spencer Seballos, Benjamin Fletcher, Todd Romigh, Lamis Yehia, Jessica Mester, Leigha Senter, Farshad Niazi, Motoyasu Saji, Matthew D Ringel, Thomas LaFramboise, Charis Eng
Cowden syndrome (CS) is an autosomal dominant disorder that predisposes to breast, thyroid, and other epithelial cancers. Differentiated thyroid carcinoma (DTC), as one of the major component cancers of CS, is the fastest rising incident cancer in the USA, and the most familial of all solid tumours. To identify additional candidate genes of CS and potentially DTC, we analysed a multi-generation CS-like family with papillary thyroid cancer (PTC), applying a combined linkage-based and whole-genome sequencing strategy and identified an in-frame germline compound heterozygous deletion, p...
December 22, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27990388/mucocutaneous-manifestations-of-cowden-s-syndrome
#13
Kundoor Vinay Kumar Reddy, Amarthuluri Anusha, Kotya Naik Maloth, Kesidi Sunitha, Moni Thakur
Cowden's syndrome is an autosomal dominant genodermatosis with variable orofacial and systemic manifestations. Here we present one such classical case of Cowden's syndrome in a 45-year-old female patient with features such as multiple cutaneous papillomatosis, oral fibromas, and fibromas involving multiple organs such as gastrointestinal tract (multiple polyps), thyroid disorders, and breast cancer.
November 2016: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/27943006/hereditary-syndromes-predisposing-to-endocrine-tumors-and-their-skin-manifestations
#14
REVIEW
Constantine A Stratakis
We often think of the lentiginoses, phacomatoses and other neurocutaneous syndromes as conditions that affect the skin and also predispose to a variety of tumors. However, we rarely think of Peutz-Jeghers syndrome (PJS), Carney complex (CNC), Cowden disease (CD), neurofibromatosis type-1 (NF-1) or tuberous sclerosis (TSC) as conditions that are multiple endocrine neoplasias (MEN). Indeed, all of these conditions predispose to a variety of endocrine tumors, in addition to many other neoplasms. On the other hand, the classic MENs, type 1 and 2 (MEN-1 and MEN-2, respectively) are almost never thought in terms of their skin manifestations...
September 2016: Reviews in Endocrine & Metabolic Disorders
https://www.readbyqxmd.com/read/27941184/should-we-be-more-aware-of-endometrial-cancer-in-adolescents
#15
Krzysztof Gałczyński, Łukasz Nowakowski, Tomasz Rechberger, Andrzej Semczuk
Although endometrial cancer is generally diagnosed in women after menopause, it may incidentally develop in young women or even in adolescents. Diagnostic tools should be applied in young teenage girls complaining of abnormal genital bleeding, particularly those with hereditary cancer syndromes (such as Cowden or Lynch syndromes). Adolescents affected by polycystic ovary syndrome and obesity may also be at increased risk for the development of atypical endometrial hyperplasia and endometrial cancer, and should be carefully managed when the distressing symptoms occur...
2016: Developmental Period Medicine
https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#16
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27900366/exome-sequencing-reveals-germline-gain-of-function-egfr-mutation-in-an-adult-with-lhermitte-duclos-disease
#17
Samantha Colby, Lamis Yehia, Farshad Niazi, JinLian Chen, Ying Ni, Jessica L Mester, Charis Eng
Lhermitte-Duclos disease (LDD) is a rare cerebellar disorder believed to be pathognomonic for Cowden syndrome. Presently, the only known etiology is germline PTEN mutation. We report a 41-yr-old white female diagnosed with LDD and wild-type for PTEN. Exome sequencing revealed a germline heterozygous EGFR mutation that breaks a disulfide bond in the receptor's extracellular domain, resulting in constitutive activation. Functional studies demonstrate activation of ERK/AKT signaling pathways, mimicking PTEN loss-of-function downstream effects...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27889943/a-clinicopathological-study-of-the-oral-lesions-of-cowden-disease
#18
Mariana Hammerschmidt, Silvia Vanessa Lourenço, Marcello Menta Simonsen Nico
BACKGROUND: Cowden disease is a multisystemic cancer predisposition disorder, inherited in an autosomal dominant pattern. Cutaneous and visceral lesions are either malignant tumours or are believed to represent hamartomatous growths. Mucocutaneous lesions are present on almost 100% of affected individuals. Nonetheless, some authors consider that the mucocutaneous manifestations of Cowden disease are, in reality, viral warts at distinct steps of evolution. There are only a few studies regarding the oral manifestations of Cowden disease...
November 7, 2016: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/27886412/cowden-syndrome-serendipitous-diagnosis-in-patients-with-significant-breast-disease-case-series-and-literature-review
#19
Roisin M Heaney, Michael Farrell, Maurice Stokes, Tom Gorey, Dylan Murray
Cowden syndrome (CS) is a multi-system disease that carries an increased lifetime risk of developing certain cancers as well as benign neoplasms. The presence of features of CS in the general unaffected population results in difficulties in the recognition and diagnosis of this condition. Early diagnosis is essential to prevent the development of malignant neoplasms, yet despite the introduction of diagnostic criteria and risk calculators, accurate diagnosis remains a challenge. We identified three patients who presented to the symptomatic breast unit of a University Teaching Hospital over a period of 12 weeks who subsequently were diagnosed with CS...
January 2017: Breast Journal
https://www.readbyqxmd.com/read/27807061/familial-non-medullary-thyroid-cancer-unraveling-the-genetic-maze
#20
REVIEW
Samantha Peiling Yang, Joanne Ngeow
Familial non-medullary thyroid cancer (FNMTC) constitutes 3-9% of all thyroid cancers. Out of all FNMTC cases, only 5% in the syndromic form has well-studied driver germline mutations. These associated syndromes include Cowden syndrome, familial adenomatous polyposis, Gardner syndrome, Carney complex type 1, Werner syndrome and DICER1 syndrome. It is important for the clinician to recognize these phenotypes so that genetic counseling and testing can be initiated to enable surveillance for associated malignancies and genetic testing of family members...
December 2016: Endocrine-related Cancer
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