Dermoscopy of Cowden Syndrome

Jarrett, Rachael; Walker, Lisa; Soilleux, Elizabeth; Bowling, Jonathan

doi:10.1001/archdermatol.2009.22

Cited by 4 publications

(1 citation statement)

References 2 publications

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“…Acral keratoses, located on the palmoplantar surfaces and dorsal hands/feet, have been repeatedly reported in both children and adults with PHTS [15,29,48,88,92,93,94]. Acral keratoses have been noted in both pediatric and adult populations of PTEN mutation carriers, but further studies are needed to define the age of onset and penetrance [19,36,93,95]. Some case reports observed keratoses appearing on non-acral sites as well [15,48].…”

Section: Benign Diseasementioning

confidence: 99%

PTEN Hamartoma Tumor Syndrome: A Clinical Overview

Pilarski

2019

Cancers

135

166

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The phosphatase and tensin homolog (PTEN) hamartoma tumor syndrome (PHTS) is a grouping of related genetic disorders that has been linked to germline mutations in the PTEN gene. These disorders include Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome, adult Lhermitte–Duclos disease, and autism spectrum disorders associated with macrocephaly. The majority of the clinical information available on PHTS, however, is related to individuals diagnosed with CS. There is still much to be learned about this disorder, since diagnostic criteria for CS were only established in 1996, before the identification of the PTEN gene, and were based primarily on features seen in cases reported in the existing literature. More recently, however, data from several large series of patients have shown that a number of the clinical features associated with PTEN mutations are either more or less common than previously reported. In addition, we now know that only about 30–35% of patients meeting clinical diagnostic criteria for Cowden syndrome actually have a detectable PTEN mutation. Thus, our understanding of PTEN-related diseases and their management has evolved significantly over time. The United States National Comprehensive Cancer Network (NCCN) has produced and regularly updates practice guidelines which include clinical diagnostic criteria as well as guidelines for PTEN testing and management of patients with mutations. This review will summarize the overall literature on PHTS as well as recent findings which are broadening our understanding of this set of disorders.

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Section: Benign Diseasementioning

confidence: 99%

PTEN Hamartoma Tumor Syndrome: A Clinical Overview

Pilarski

2019

Cancers

135

166

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Thyroid disease associated with cowden syndrome: A meta‐analysis

2012

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BackgroundWe investigated the pathology and surgical management of thyroid disease in patients with Cowden syndrome (CS).MethodsA query of the PubMed database between 2001 and January 2010 was performed using the terms “cowden syndrome OR cowden's syndrome OR cowden disease OR cowden's disease.” Original articles, reviews, case reports, and case series were included. Articles were excluded if they were not written in English, did not present case/cases of CS, or did not include patient information to qualify for a diagnosis of CS. Ninety‐five articles met the inclusion and exclusion criteria. A total of 181 cases were analyzed.ResultsOf the 181 patients, 99 female (54.7%) and 77 male patients (42.5%) had sex reported. The age at presentation ranged from 3 days to 78 years. Ninety‐six patients (96/181, 53.0%) were reported to have thyroid disease. Surgical management of thyroid disease was performed in 80.2% (77/96) of patients with thyroid disease, with total thyroidectomy being the most common operation reported (23/77, 29.9%). Thyroid pathology reported with CS patients included goiter (39/96, 40.6%), adenoma (24/96, 25%), unknown/unspecified pathology (8/96, 8.3%), follicular carcinoma (7/96, 7.3%), thyroiditis (7/96, 7.3%), papillary carcinoma (6/96, 6.3%), cancer (unknown type) (3/96, 3.1%), medullary carcinoma (1/96, 1%), and hyperthyroidism (1/96, 1%).ConclusionCareful monitoring of thyroid disease in CS patients is imperative. © 2012 Wiley Periodicals, Inc. Head Neck, 2013

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Epidermal Nevi, Neoplasms, and Cysts

2011

Andrews' Diseases of the Skin

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Dermoscopy of Cowden Syndrome

Cited by 4 publications

References 2 publications

PTEN Hamartoma Tumor Syndrome: A Clinical Overview

PTEN Hamartoma Tumor Syndrome: A Clinical Overview

Thyroid disease associated with cowden syndrome: A meta‐analysis

Epidermal Nevi, Neoplasms, and Cysts

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