Filiform polyposis of the small bowel in a patient with multiple hamartoma syndrome (Cowden disease).

Cho, K C; Sundaram, Krishna; Sebastiano, L S

doi:10.2214/ajr.173.2.10430165

Cited by 8 publications

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“…These extracutaneous findings are present in 90% of patients, and various congenital abnormalities are also involved. 6 The most frequent extracutaneous manifestation is thyroid disease, 2,7 which may occur in roughly 65% of patients, 4,7,14 affecting both sexes equally. 13 Although the lesions are usually of benign nature, like goiter, adenomas, thyroiditis, hypo -and hyperthyroidism and thyroglossal duct cyst, thyroid cancer occurs in proportions varying from 3 to 10% of all individuals affected.…”

Section: Discussionmentioning

confidence: 99%

“…2,4,13 Nos pacientes do sexo masculino pode ser encontrada ginecomastia, 2 porém nenhum caso de câncer da mama em homens foi descrito associado à SC. 2,13 As anormalidades no TGI compreendem lesões polipóides que podem desenvolver-se em qualquer parte de seu segmento, como cólon, retossigmóide, estômago, duodeno, intestino delgado e esôfago, em ordem decrescente de acometimento; 14 o ânus também pode ser afetado. 2,13 Tais pólipos são tipicamente pequenos, múltiplos e sésseis.…”

Section: Discussionunclassified

“…2,4,13 In male patients gynecomastia may be found, 2 however no case of breast cancer in men has been described in association with CS. 2,13 The abnormalities in TGI include polypoid lesions that may develop at some point in its course, like rectosigmoid colon, duodenum, Delgado intestine and esophagus, 14 in decreasing order of affliction; the anus may be affected as well. 2,13 Such polyposes are typically small, multiple and sessile.…”

Section: Recomendam O Exame Dementioning

confidence: 99%

“…2,8 Few cases of colon carcinoma have been reported, and a premalignant status of this syndrome has still not been established in relation with TGI. 14 3,13 The nervous system may be affected in diverse ways; 3,4 ganglioneuroma and symptomatic or asymptomatic neurofibroma, which may be found incidentally or in association with cutaneous lesions. 3 Recently Lhermitte-Duclos disease (DLD) was considered a neurological manifestation of CS.…”

Section: Recomendam O Exame Dementioning

confidence: 99%

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Síndrome de Cowden: relato de um caso

Guimarães

Branco

Carvalho³

et al. 2002

An. Bras. Dermatol.

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A síndrome de Cowden (SC) ou síndrome de múltiplos hamartomas (SMH) é genodermatose rara de herança autossômica dominante e expressividade variável. É caracterizada por múltiplas lesões hamartomatosas de origem ectodérmica , mesodérmica e endodérmica. O órgão mais acometido é a pele, e as lesões mucocutâneas estão presentes em proporção que varia de 99 a 100% dos casos. Esses sinais precedem o desenvolvimento do câncer em vários anos, servindo como importantes marcadores clínicos na identificação de pacientes com alto rico para desenvolver câncer da mama e tireóide. Devido a associações com malignidades internas o diagnóstico precoce é essencial. O locus gênico para SC foi identificado no cromossomo 10q22-23. As mutações no gene supressor tumoral, PTEN/MMAC1, localizado no cromossomo 10q23, têm sido implicadas no desenvolvimento do câncer mamário. Os autores relatam um caso dessa rara entidade. Trata-se de paciente do sexo masculino com quadro clínico característico dessa síndrome.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionunclassified

Section: Recomendam O Exame Dementioning

confidence: 99%

Section: Recomendam O Exame Dementioning

confidence: 99%

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Síndrome de Cowden: relato de um caso

Guimarães

Branco

Carvalho³

et al. 2002

An. Bras. Dermatol.

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“…The vast majority of cases occur in the setting of inflammatory bowel disease, particularly in patients with ulcerative colitis. Although esophageal, gastric and intestinal filiform polyps have been described, the colon is the most involved site where the sigmoid colon is the most common location [2][3][4]. In the literature, the polyps appear as a few to hundreds.…”

Section: Introductionmentioning

confidence: 99%

Colonic Filiform Polyposis in a Patient without Inflammatory Bowel Disease

Chen¹,

Ritter²,

Hou³

et al. 2017

J Med Surg Pathol

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Filiform polyposis is an uncommon entity that is most often encountered in the colon of patients with a history of inflammatory bowel disease (IBD). We report a case of filiform polyposis occurring in a 71-year-old man with no history, or symptoms of IBD. The patient was found to have numerous polypoid lesions in the ascending and proximal transverse colon endoscopically and underwent hemicolectomy. Gross examination revealed numerous finger-like polyps spreading in the ascending colon and transverse colon. Histologic evaluation of the excised specimen demonstrated the polyps lined by cytologically bland colonic mucosa with fibrovascular cores. Acute and chronic inflammation including crypt abscesses was focally present. No significant ulcerations, granulomas, dysplasia or malignancy were identified. The diagnosis was filiform polyposis and he had an uneventful postoperative course. The pathogenesis of colonic filiform polyposis is still uncertain. Filiform polyps themselves are not considered precancerous in the patients without IBD.

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Colon and Rectum

Advanced Imaging of the Abdomen

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Filiform polyposis of the small bowel in a patient with multiple hamartoma syndrome (Cowden disease).

Cited by 8 publications

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Síndrome de Cowden: relato de um caso

Síndrome de Cowden: relato de um caso

Colonic Filiform Polyposis in a Patient without Inflammatory Bowel Disease

Colon and Rectum

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