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Cowden Syndrome

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https://www.readbyqxmd.com/read/28401059/bannayan-riley-ruvalcaba-syndrome-in-a-patient-with-a-pten-mutation-identified-by-chromosomal-microarray-analysis-a-case-report
#1
Sun Hwa Lee, Eell Ryoo, Hann Tchah
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the phosphatase and tensin homolog hamartoma tumor syndrome with a PTEN gene mutation. It is a rare dominant autosomal disorder characterized by cutaneous lipomas, macrocephaly, intestinal polyps, and developmental delay. Diagnosing this syndrome is important, because it may represent the pediatric phenotype of Cowden syndrome, in which there is an increased risk for malignant tumors in children. Until now, the prevalence of BRRS is unknown. Several dozen cases have been reported in the medical literature, but no case has been reported in Korea...
March 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28396890/cowden-syndrome-%C3%A2-oral-presentations-of-a-paraneoplastic-syndrome-%C3%A2-case-report-and-review-of-the-literature
#2
Snober Tariq, Joseph Katz
Cowden syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors with unique oral manifestations. We present a case of Cowden syndrome in a patient diagnosed with breast cancer, traumatic fibromas, bronchial asthma, and multiple papillomatous fibromatosis of the oral cavity. Close association between oral papillomatosis associated with Cowden syndrome and PTEN gene mutation may increase the risk for malignant transformation. Therefore, patients of Cowden syndrome should be monitored carefully for all kinds of cancers...
2017: Quintessence International
https://www.readbyqxmd.com/read/28387096/-a-familial-non-medullary-thyroid-carcinoma-fnmtc-a-clinical-and-genetic-update
#3
REVIEW
H Valdes-Socin, L Palmeira, M-C Burlacu, A-F Daly, V Bours, A Beckers
The syndrome of Familial Non Medullary Thyroid Carcinoma (FNMTC) includes two or more patients with an isolated non-medullary thyroid cancer (papillary, follicular, anaplastic) within the same family. To diagnose FNMTC, the clinician must exclude a syndromic presentation such as the syndromes of Cowden, Gardner or Werner, and the Carney Complex. Up to now, a hundred families with FNMTC have been genetically studied, including forms with (Ch19p13.2) or without oxyphilia (Ch2q21), in association with a multinodular goiter (Ch14q32), or with a renal cancer (Ch1q21)...
December 2016: Revue Médicale de Liège
https://www.readbyqxmd.com/read/28372663/anesthetic-management-of-a-patient-with-cowden-syndrome-and-review-of-anesthetic-concerns
#4
Lalwani Parin, Gupta Madhu, Thakur Anil, Banwait Sonali
No abstract text is available yet for this article.
May 2017: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/28329552/diffuse-sebaceous-gland-hyperplasia
#5
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
#6
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
#7
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
#8
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 2017: Cancer Metastasis Reviews
https://www.readbyqxmd.com/read/28251007/a-pediatric-case-of-cowden-syndrome-with-graves-disease
#9
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
#10
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
#11
Wanfeng Yu, Ying Ni, Motoyasu Saji, Matthew D Ringel, Ritika Jaini, Charis Eng
Thyroid cancer is a major component cancer of Cowden syndrome (CS), a disorder typically associated with germline mutations in PTEN. Germline variants in succinate dehydrogenase genes (SDHx) co-occurring with PTEN germline mutations confer a 2-fold increased prevalence (OR 2.7) of thyroid cancer compared to PTEN-associated CS but 50% decreased prevalence (OR 0.54) of thyroid cancer compared to SDHx-associated CS. We have previously shown that CS-associated SDHD variants G12S and H50R induce PTEN oxidation and nuclear accumulation in thyroid cancer...
April 1, 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
#12
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
#13
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
#14
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
#15
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
#16
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...
January 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/27990388/mucocutaneous-manifestations-of-cowden-s-syndrome
#17
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
#18
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
#19
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
#20
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
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