Cowden syndrome: review and report of a case of late diagnosis

Mukamal, Luana Vieira; Ferreira, Adriana Fernandes; Jacques, Claudio de Moura astro; Amorim, César Augusto; Piñeiro-Maceira, Juãn; Ramos‐e‐Silva, Márcia

doi:10.1111/j.1365-4632.2011.05140.x

Cited by 19 publications

(22 citation statements)

References 17 publications

(34 reference statements)

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“…Oral papillomatosis is an important clinical manifestation for diagnosis and is usually located in the buccal and gingival mucosa where lesions coalesce and produce a cobblestone-like appearance. A histopathological feature of oral papillomatosis is inflammatory fibroepithelial hyperplasia10, which present in the case reported herein. Multiple hamartomas can also affect the bones, eyes, genitourinary tract and central nervous system1.…”

Section: Discussionmentioning

confidence: 53%

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Cowden Syndrome with a Novel GermlinePTENMutation and an Unusual Clinical Course

et al. 2015

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Here, we report a case of Cowden syndrome with an unusual clinical course of late-onset oral papillomatosis and a novel germline PTEN mutation. Cowden syndrome is the most common phosphatase and tensin homolog hamartomatous tumor syndrome. It is characterized by multiple hamartomas in the gastrointestinal tract and mucocutaneous lesions such as trichilemmomas, oral papillomatosis, facial papules, and acral keratoses. Patients with Cowden syndrome have a higher risk of malignancies, especially breast, colon, and thyroid cancers. A 53-year-old female presented with cobblestone-like papillomatous papules on the lower gums that developed 1 year earlier. She had no other mucocutaneous lesions besides oral papillomatosis. Gastrointestinal endoscopy and colonoscopy revealed multiple hamartomas in the stomach and colon. The patient had a history of breast cancer and multinodular goiter diagnosed 4 and 5 years ago, respectively. She was diagnosed with Cowden syndrome and a novel PTEN mutation was confirmed by direct sequencing.

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Section: Discussionmentioning

confidence: 53%

“…It encodes a dual-function phosphatase whose substrate is phosphatidylinositol, which is a phospholipid in the phosphatidylinositol 3-kinase pathway that shares homology with the adhesion molecules tensin and auxilin6,7,9. Using both protein and lipid substrates, it regulates cell cycling, cellular growth, proliferation, and angiogenesis10.…”

Section: Discussionmentioning

confidence: 99%

Cowden Syndrome with a Novel GermlinePTENMutation and an Unusual Clinical Course

et al. 2015

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“…It was described in 1963 by Lloyd & Dennis in a 20 year-old patient named Rachel Cowden [1]. Its prevalence is estimated as 1/200,000 to 1/250,000.…”

Section: Discussionmentioning

confidence: 99%

“…It is characterized by the presence of hamartomas of ectodermal, mesodermal and endodermal origin, with an increased risk of malignant transformation [1,2]. The authors report a case of late diagnosis of the classic clinical manifestations of this syndrome in a man with exuberant skin lesions.…”

Section: Introductionmentioning

confidence: 99%

Cowden Syndrome: Case Report with Late Diagnosis

2015

J Syndr

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“…Tümör supresyonunda görevli kromozom 10'da (10q22-q23) yerleşen fosfotaz ve tensin homolog (PTEN) geninde germline mutasyon olguların %80'inde görülür (2). Görülme sıklığı 1/200,000-250,000'dir (3,4). Sendromda özellikle meme, tiroid, endometrium, gastrointestinal sistem ve böbreği içine alan çok sayıda organda artmış malignite riski bulunmaktadır (5 Cowden sendromlu kadın hastaların %5-10'unda endometrium kanseri görülmektedir (18).…”

Section: Introductionunclassified