Cowden syndrome (multiple hamartoma syndrome)

2013 ◽  
Vol 38 (8) ◽  
pp. 957-959 ◽  
Author(s):  
A. Aslam ◽  
I. H. Coulson
Keyword(s):  
Cowden Syndrome ◽  
Multiple Hamartoma Syndrome

scholarly journals The importance of the dentist in the diagnosis of Cowden syndrome: case report

2016 ◽  
Vol 19 (3) ◽  
pp. 111
Author(s):  
Camila Feier Viegas ◽  
Tulio De Lucena Pires ◽  
Paulo Tadeu de Souza Figueiredo ◽  
Andre Ferreira Leite ◽  
Clemes Alves Mesquita
Keyword(s):  
Case Report ◽  
Medical History ◽  
Dental Treatment ◽  
Cowden Syndrome ◽  
University Hospital ◽  
Connective Tissues ◽  
Autosomal Dominant Disorder ◽  
The University ◽  
To Receive ◽  
Multiple Hamartoma Syndrome

<p align="justify"><span style="font-family: Arial, serif;"><span><span lang="en-US"><span>Cowden Syndrome</span></span></span></span><span style="font-family: Arial, serif;"><span><span lang="en-US"> is an autosomal dominant disorder characterized by the development of several hamartomas in a variety of tissues, including the skin, gastrointestinal tract, adipose tissue, and bone and connective tissues. This syndrome is associated with a high risk of developing malignancies, especially breast, thyroid and endometrium cancers. This report presents a case of a 53-year-old patient who sought assistance at the Dentistry Department of the University Hospital of Brasilia (HUB) to receive basic dental treatment. The current and past medical history and oral and facial manifestations led to the diagnosis of </span></span></span><span style="font-family: Arial, serif;"><span><span lang="en-US"><span>Cowden syndrome</span></span></span></span><span style="font-family: Arial, serif;"><span><span lang="en-US">. This case report aims to highlight the importance of a dental surgeon in the diagnosis of this syndrome, based on the observation of oral manifestations and medical history.</span></span></span></p><p align="justify"><span style="font-family: Arial, serif;"><span><span lang="en-US"><strong>Keywords</strong></span></span></span></p><p align="justify"><span style="font-family: Arial, serif;"><span><span lang="en-US">Cowden Syndrome; Multiple Hamartoma Syndrome.</span></span></span></p>

scholarly journals Testicular pain as a presentation of Cowden syndrome

2011 ◽  
Vol 93 (5) ◽  
pp. e51-e52 ◽  
Author(s):  
Hussain M Alnajjar ◽  
Arun Sahai ◽  
Andrew Keane ◽  
Stephen Gordon
Keyword(s):  
Cowden Syndrome ◽  
Limited Information ◽  
Nodular Goitre ◽  
Phosphatase And Tensin Homolog ◽  
Testicular Pain ◽  
Left Testicle ◽  
Tensin Homolog ◽  
History Of ◽  
Multiple Hamartoma Syndrome

This case report outlines a rare case in Cowden syndrome and PTEN (phosphatase and tensin homolog) gene mutation and how it may initially present to the urologist. Also known as multiple hamartoma syndrome, Cowden syndrome is a rare disorder associated with the development of several types of malignancy. A thorough search of the literature reveals limited information regarding its presentation to the urologist. We report the case of a 47-year-old gentleman with a two-week history of worsening pain and swelling in his left testicle. Testicular ultrasound revealed multiple hyperechoic areas bilaterally suggestive of multiple lipomas. He was also found to have macrocephaly, freckling of his glans and foreskin and an enlarged nodular goitre and the geneticist diagnosed Cowden syndrome. The disease is discussed and guidance is given on its management and follow up.

scholarly journals Multiple Hamartoma Syndrome with Characteristic Oral and Cutaneous Manifestations

2013 ◽  
Vol 2013 ◽  
pp. 1-4 ◽  
Author(s):  
Prashanthi Chippagiri ◽  
Spoorthi Banavar Ravi ◽  
Neha Patwa
Keyword(s):  
Early Recognition ◽  
Cowden Syndrome ◽  
Cancer Surveillance ◽  
Incomplete Penetrance ◽  
Autosomal Dominant Trait ◽  
Cutaneous Manifestations ◽  
Mucosal Surfaces ◽  
Cowden’S Syndrome ◽  
Palmoplantar Keratosis ◽  
Multiple Hamartoma Syndrome

Aim. To present a case of Cowden's syndrome and emphasize the importance of continued cancer surveillance in these patients. Cowden syndrome is an inherited autosomal dominant trait with incomplete penetrance and a range of expressivity. It is characterized by multiple hamartomas and neoplasms. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here, we report a case of Cowdens syndrome of a 30-year-old female patient who came with a complaint of multiple growths in the oral cavity of a three-month duration. On examination, multiple skin-colored, flat-topped papules over her forehead and right malar bone and multiple papillomatous papules involving all the mucosal surfaces intraorally were observed. This syndrome is associated with the development of several types of malignancies, especially breast carcinoma and thyroid carcinoma, which is why early recognition and regular and vigilant surveillance of individuals with the syndrome are important.

scholarly journals Sclerotic Fibroma: A Differential Diagnosis of Spontaneous Keloid

2018 ◽  
Author(s):  
Rui Pedro Santos ◽  
Cristina Resende ◽  
Olga Ferreira ◽  
Celeste Brito
Keyword(s):  
Differential Diagnosis ◽  
Skin Lesions ◽  
Cowden Syndrome ◽  
Left Shoulder ◽  
Distinct Entity ◽  
Cutan Pathol ◽  
Increased Risk ◽  
Cowden’S Disease ◽  
Previously Treated ◽  
Multiple Hamartoma Syndrome

CASE DESCRIPTIONSclerotic fibroma (SF) is a rare neoplasm first described in 1972 by Weary et al in association with Cowden syndrome.1 This rare syndrome typically manifests with mucocutaneous findings (trichilemmomas, verrucous papules in the oral mucosa, acral keratosis and sclerotic fibromas) and an increased risk for several neoplasms.1 Later, Rapini e Golitz coined the term solitary SF in the absence of Cowden syndrome.2 It is debatable whether SF is distinct lesion or a sclerotic evolutionary end-point of other conditions.3 SF manifests clinically as an asymptomatic, well-demarcated skin-colored to erythematous papule or nodule with no site or sex predilection.2,3 The authors present a healthy 56-year-old male with a pink, linear plaque located on the left shoulder slowly growing for about 20 years. He was previously treated with intralesional corticosteroids for a suspected spontaneous keloid but the patient abandoned treatment by his own initiative. [...] REFERENCES1. Weary PE, Gorlin RJ, Gentry WC, Jr., Comer JE, Greer KE. Multiple hamartoma syndrome (Cowden’s disease). Arch Dermatol. 1972;106:682-90.2. Rapini RP, Golitz LE. Sclerotic fibromas of the skin. J Am Acad Dermatol. 1989;20:266-71.3. High WA, Stewart D, Essary LR, Kageyama NP, Hoang MP, Cockerell CJ. Sclerotic fibroma-like change in various neoplastic and inflammatory skin lesions: is sclerotic fibroma a distinct entity? J Cutan Pathol. 2004;31:373-8. Received: 22/09/2017 - Accepted: 30/11/2017

Orofacial Manifestations Assisting the Diagnosis of Cowden Syndrome in a Middle-Aged Patient: Case Report and Literature Overview

2021 ◽  
Author(s):  
Sebastião Silvério Sousa-Neto ◽  
José Alcides Almeida de Arruda ◽  
Allisson Filipe Lopes Martins ◽  
Lucas Guimarães Abreu ◽  
Ricardo Alves Mesquita ◽  
...  
Keyword(s):  
Case Report ◽  
Cowden Syndrome ◽  
Aged Patient ◽  
Middle Aged ◽  
Patient Case ◽  
Literature Overview

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

2021 ◽  
Author(s):  
Han Na Jang ◽  
Sa Hong Kim ◽  
Young Min Cho ◽  
Do Joong Park
Keyword(s):  
Bariatric Surgery ◽  
Case Report ◽  
Cowden Syndrome ◽  
Pten Mutation

scholarly journals Lhermitte–Duclos Disease: Incidental Finding in Traumatic Cerebral Hemorrhage

2021 ◽  
Author(s):  
Hemant Kumar Beniwal ◽  
Thatikonda Satish ◽  
Gollapudi Prakash Rao ◽  
Musali Siddartha Reddy ◽  
Srikrishnaaditya Manne
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Intracranial Pressure ◽  
Cerebellar Ataxia ◽  
Cerebral Hemorrhage ◽  
Incidental Finding ◽  
Cowden Syndrome ◽  
Young Female ◽  
Resonance Imaging ◽  
Increased Intracranial Pressure

AbstractLhermitte–Duclos disease, also known as dysplastic cerebellar gangliocytoma, is a rare hamartomatous tumor localized in cerebellum. An association with Cowden syndrome is observed in 50% of cases who present with symptoms of increased intracranial pressure and cerebellar ataxia. These patients have specific magnetic resonance imaging and histopathological findings. Surgical resection is the treatment of choice. Here, we report a case of a young female with traumatic frontal hemorrhage associated with Lhermitte–Duclos disease.

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