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Cowden Syndrome

Romeo Patini, Edoardo Staderini, Patrizia Gallenzi
Cowden's Syndrome (CS) is a rare congenital autosomal dominant disorder that affects around 1/200000 patients with an incomplete penetrance and variable expressivity, characterized by alterations in a tumor suppressor gene. A 14-year-old Caucasian male patient came to the attention of the authors complaining of palm nodules, gingival bleeding and painful pedunculated lesions on the lips and on the labial side of anterior sextants. After genetic investigation the final diagnosis of a Cowden Syndrome was made...
October 2016: Journal of Clinical and Experimental Dentistry
Jessica L Gonzalez, Natalia Plotnikova, Andrew Seymour, Ciaran M Mannion, Richard Danialan, David Rosmarin
Trichilemmomas are benign cutaneous proliferations derived from the outer root sheath of the hair follicle. They most often occur on the head and neck region and show a female predominance. When multiple, they are associated with Cowden syndrome (CS), a rare disorder due to an autosomal dominant germline mutation in PTEN (phosphatase and tensin homolog on chromosome 10), a tumor suppressor gene. Trichilemmomas outside of the head and neck region are rare, and as such, the association with CS is not clear. A 28-year-old healthy female with no significant family history of cancer presented to her dermatologist with multiple erythematous papules on the left anterior ankle, starting at birth...
September 28, 2016: Journal of Cutaneous Pathology
Silvia Potenziani, Danielle Applebaum, Bhuvaneswari Krishnan, Carolina Gutiérrez, A Hafeez Diwan
Cowden Syndrome (CS) is an uncommon autosomal dominant multiorgan/system genodermatosis. It is characterized by the development of multiple hamartomas of endodermal, mesodermal and ectodermal origin, an increased lifetime risk of breast, thyroid, endometrial, and other cancers and an identifiable germline mutation. Mucocutaneous hamartomas are the most common lesions seen and mainly include facial trichilemmomas, oral mucosal papillomas, and benign acral keratoses. Herein, we report a case of a 63-year-old Caucasian male with a long-established diagnosis of CS and history of thyroid cancer, colonic polyps, and innumerable trichilemmomas, seborrheic keratoses, squamous papillomas, and non-melanoma skin cancers excised in the past...
September 28, 2016: Journal of Cutaneous Pathology
Ruthy Shaco-Levy, Kory W Jasperson, Katie Martin, N J Samadder, Randall W Burt, Jian Ying, Mary P Bronner
GOALS: To further characterize the gastrointestinal manifestations of Cowden syndrome in clinically well-annotated patients to improve the diagnosis of this syndrome. BACKGROUND: The gastrointestinal manifestations of Cowden Syndrome, an important heritable and multiorgan cancer syndrome, are not well defined. Proper diagnosis is essential for effective cancer surveillance and prevention in these patients. STUDY: Cowden patients with gastrointestinal polyps were selected for medical record and pathologic slide review...
September 22, 2016: Journal of Clinical Gastroenterology
Colton Nielson, Toria Fischer, Ryan Fischer, Joseph Donald, Anand Rajpara
Cowden syndrome (CS) is a rare genetic disorder with autosomal dominant inheritance, linked to germline mutations in the PTEN tumor suppressor gene on chromosome 10. Cowden syndrome often co-exists with Lhermitte-Duclos disease (LDD), with LDD included as a major criterion in CD diagnosis. This case involves a woman presenting with many of the classic diagnostic criterions and associations of CD, as well as with several comorbidities and unique objective findings.
2016: Dermatology Online Journal
Lubna Suaiti, Ali Al-Haseni, Hyunjoo Lee, Debjani Sahni
No abstract text is available yet for this article.
July 2016: JAAD Case Reports
Margaret Pain, Armine Darbinyan, Mary Fowkes, Raj Shrivastava
BACKGROUND: Cowden syndrome is a rare, multisystem disease manifesting with increased hamartomas and neoplasms. Though meningioma has been documented in patients with Cowden syndrome, the relationship between these two phenomena is still unclear. CASE DESCRIPTION: We report a case of a 43-year-old female patient with a known PTEN mutation and clinical history of Cowden syndrome. A workup of headache demonstrated two skull base meningiomas. At the time of surgery, several additional tiny meningiomas were detected in the same region...
July 2016: Journal of Neurological Surgery Reports
D Rusiecki, B Lach
Lhermitte-Duclos disease (LDD), a disorder first described by French physicians Lhermitte and Duclos in 1920 [25], is a benign, slow growing dysplastic gangliocytoma of the cerebellum, characterized by replacement of the granule cell layer by abnormal granule and Purkinje like cells. The most frequent presenting signs and symptoms are megalocephaly, increased intracranial pressure, nausea, hydrocephalus, ataxia, gait abnormalities, and intermittent headaches, all of which are attributed to the mass effect [6,11,25]...
2016: Folia Neuropathologica
Yun Hee Kang, Hye Kyung Lee, Geon Park
Cowden syndrome (CS) is a rare autosomal dominant disorder characterized by multiple hamartomas in various tissues and cancers (breast, thyroid, and endometrium). We report CS of the esophagus and gastrointestinal tract that was incidentally detected by positron emission tomography/computed tomography (PET/CT) at postoperative surveillance in an endometrial cancer patient. PET/CT showed mildly increased FDG uptake along the entire esophagus and stomach. Upper GI endoscopy and histologic examination revealed glycogenic acanthosis of the esophagus and several hundred gastric polyps...
September 2016: Nuclear Medicine and Molecular Imaging
Eduard Yakubov, Ali Ghoochani, Rolf Buslei, Michael Buchfelder, Ilker Y Eyüpoglu, Nicolai Savaskan
Cowden syndrome (CS) is clinically presented by multiple hamartomas, often with mucocutaneous lesions, goiter, breast cancer and gastrointestinal polyps. CS is a genetic disorder of autosomal dominant inheritance and is one distinct syndrome of the phosphatase and tensin homolog on chromosome 10 (PTEN) hamartoma tumor spectrum. Noteworthy, PTEN germline mutations are related to a wide range of brain tumors. We performed a systematic analysis and review of the medical literature for Cowden syndrome and meningioma and additionally present the case of a 29-year- old CS patient diagnosed with multiple meningiomas...
2016: Oncoscience
Maria Angela Gosein, Dylan Narinesingh, Cemonne Ann-Alicia Celeste Nixon, Sanjeeva Reddy Goli, Paramanand Maharaj, Alexander Sinanan
BACKGROUND: Cowden syndrome is an autosomal dominant disorder with a predisposition to multiple benign and malignant tumors. In our patient, in addition to breast and endometrial malignancies as well as facial trichilemmomas, she was noted to have multiple meningiomas, pancreatic lipomas and lung cysts. These latter lesions have been noted in previous Cowden syndrome case reports, but are not included in the diagnostic criteria at this time. To our knowledge, this is the first case of multiple meningiomas in this syndrome...
2016: BMC Research Notes
Amanda Gammon, Kory Jasperson, Marjan Champine
Cowden syndrome (CS) is an often difficult to recognize hereditary cancer predisposition syndrome caused by mutations in phosphatase and tensin homolog deleted on chromosome 10 (PTEN). In addition to conferring increased cancer risks, CS also predisposes individuals to developing hamartomatous growths in many areas of the body. Due to the rarity of CS, estimates vary on the penetrance of certain phenotypic features, such as macrocephaly and skin findings (trichilemmomas, mucocutaneous papules), as well as the conferred lifetime cancer risks...
2016: Application of Clinical Genetics
Josie Todd
Cowden syndrome, a rare genetic disorder estimated to occur in 1 in 200,000 live births and inherited as an autosomal dominant mutation in PTEN gene, is part of the PTEN hamartoma tumor syndrome. These patients are at risk of breast cancer, as well as cancers of the digestive tract, thyroid, uterus and ovaries. Often identified by their dentist due to characteristic papillomatosis in the gingival mucosa, they have an estimated lifetime risk of up to 81% of developing breast cancer. This article describes a relatively uncommon procedure of bi-pedicle nipple-sparing mastectomy, a modified Letterman technique, used in the setting of immediate implant based reconstruction in a patient with Cowden syndrome...
June 2016: Gland Surgery
José David Jiménez Parra, Diego García García, Lorena Torres Varas, Jesús Jiménez Calvo
No abstract text is available yet for this article.
April 2016: Archivos Españoles de Urología
Deborah F DeLair, Robert A Soslow
This review covers gynecologic manifestations that may occur in rare hereditary syndromes. Recent advances in disorders, such as hereditary leiomyomatosis, renal cell carcinoma syndrome and tuberous sclerosis complex, are discussed as well as lesions that occur in von Hippel-Lindau syndrome, nevoid basal cell carcinoma syndrome, Cowden syndrome, Ollier disease/Maffucci syndrome, and Carney complex. Characteristic clinicopathologic features of each of these syndromes are discussed with an emphasis on the key features that enable pathologists to identify patients at highest risk for these diseases...
June 2016: Surgical Pathology Clinics
Antoinette R Tan
Breast cancer may present with cutaneous symptoms. The skin manifestations of breast cancer are varied. Some of the more common clinical presentations of metastatic cutaneous lesions from breast cancer will be described. Paraneoplastic cutaneous dermatoses have been reported as markers of breast malignancy and include erythema gyratum repens, acquired ichthyosis, dermatomyositis, multicentric reticulohistiocytosis, and hypertrichosis lanuginosa acquisita. Mammary Paget's disease, often associated with an underlying breast cancer, and Cowden syndrome, which has an increased risk of breast malignancy, each have specific dermatologic findings...
June 2016: Seminars in Oncology
Steffen Pistorius, Barbara Klink, Jessica Pablik, Andreas Rump, Daniela Aust, Marlene Garzarolli, Evelin Schröck, Hans K Schackert
BACKGROUND: Ganglioneuromatous polyposis (GP) is a very rare disorder which may be associated with other clinical manifestations and syndromes, such as Cowden syndrome, multiple endocrine neoplasia (MEN) type II and neurofibromatosis (NF) 1. The risk for malignant transformation of ganglioneuromas is unknown, and the combination of GP with colon cancer has been only very seldom reported. METHODS AND RESULTS: We report the case of a 60-year old male patient with adenocarcinoma, adenomas and lipomas of the colon and multiple gastroduodenal lesions combined with generalised lipomatosis and macrocephaly...
2016: Hereditary Cancer in Clinical Practice
Luis A Prats-Sánchez, Jose V Hervás-García, Juan L Becerra, Manuel Lozano, Carlos Castaño, Josep Munuera, Domingo Escudero, Carlos García-Esperón
Cowden syndrome is a rare autosomal dominant disease. It is characterized by multiple noncancerous tumorlike growths called hamartomas, which typically are found in the skin, oral mucosa, thyroid, breast, and gastrointestinal tract. It carries with it a potential risk of malignant transformation, especially of the breast and thyroid. In 80% of the cases, the human tumor suppressor gene, phosphatase and tensin homolog (PTEN), is mutated in the germ line. We report a patient with Cowden syndrome who presented with generalized seizure and left anterior temporal hemorrhage and a nontraumatic subarachnoid hemorrhage due to multiple intracranial arteriovenous fistulas (AVFs)...
June 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Amin A Hedayat, Jason R Pettus, Jonathan D Marotti, Laura J Tafe, Stefan D Holubar, Mikhail Lisovsky
Mammary-like glands are normal appendages of anogenital skin and can give rise to epithelial and stromal tumors that closely resemble breast tumors. Cowden syndrome is an autosomal-dominant cancer-predisposition syndrome that is associated with increased risk of various benign and malignant tumors including breast cancers. Here, we report the first case of a proliferative lesion of mammary-like glands in the setting of Cowden syndrome. A 27-year-old female with Cowden syndrome (R130Q-PTEN mutation) presented with a 1-cm tender, polypoid perianal lesion...
August 2016: Journal of Cutaneous Pathology
Akiyuki Matsuhisa, Mitsuhiro Kishino, Masashi Nakadate, Toshifumi Kudo, Yoshinori Inoue, Ukihide Tateishi
A 69-year-old female with Cowden syndrome presented with pain at rest in the right leg. Arteriovenous malformations (AVMs) of the right lower extremity were detected by computed tomography and magnetic resonance imaging. Angiography indicated arteriolovenous fistulae, which were initially treated using a transarterial approach with minimal therapeutic effect. In contrast, excellent outcomes were achieved with a transvenous approach using coil embolization and liquid sclerotherapy for the venous component of the nidus...
2016: Annals of Vascular Diseases
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