La maladie de Cowden : une nouvelle observation pédiatrique

Hachicha, M.; Kammoun, T.; Chabchoub, I.; Bahloul, S.; Turki, H.; Drira, M.; Zahaf, A.; Triki, A

doi:10.1016/j.arcped.2005.11.025

Cited by 6 publications

(3 citation statements)

References 11 publications

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“…Investigation revealed thyroid lesions (three cases), but only one patient each had thyroid cancer, parotid carcinoma, and fibrocystic breast disease. No breast cancer was detected [7-9]. Environmental, genetic and nutritional factors may protect Tunisian patients with CS against breast cancer.…”

Section: Discussionmentioning

confidence: 99%

Managing the risk of cancer in Cowden syndrome: a case report

et al. 2012

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IntroductionCowden syndrome is a rare cancer predisposition syndrome inherited in an autosomal-dominant fashion. The syndrome is characterized by hamartomatous polyps that affect multiple organs: skin, mucous membranes, thyroid, breast, gastrointestinal tract, endometrium and brain. It is also associated with an increased risk of developing malignancy in many tissues but especially breast, thyroid and endometrium.Case presentationWe present the case of a 30-year-old Tunisian woman with mental retardation who presented to our facility with rectal hamartomatous polyps. Her medical history included fibrocystic disease of the breast over the last three years. A physical examination revealed macrocephaly, hyperkeratotic papules on the mid-facial skin, palmoplantar keratosis and oral mucosal papillomatosis. A breast examination revealed nodular breast tissue bilaterally and a diffuse thyroid goiter. Our patient was clinically euthyroid. A total thyroidectomy was performed. A histopathologic examination revealed thyroid papillary carcinoma. A gastrointestinal evaluation revealed esophageal and gastric polyps. Biopsies showed hyperplastic and adenomatous lesions associated with Helicobacter pylori. A final diagnosis of Cowden syndrome was made according to the syndrome testing criteria adapted by the US National Comprehensive Cancer Network. A prophylactic bilateral mastectomy was proposed but refused by our patient. Our patient was kept under surveillance for breast and colorectal malignancies.ConclusionsEarly and accurate diagnosis of Cowden syndrome is essential because it is a cancer predisposition syndrome that carries an increased risk for developing malignancy in many tissues, especially breast and thyroid. For this reason, education regarding the signs and symptoms of cancer is important. All patients must be screened for malignancies and options for prophylactic mastectomy should be discussed. Guidelines for cancer screening including surveillance and management plans for these patients should be distinguished from those of the general population, and may lead to a more timely diagnosis and treatment of cancers associated with this syndrome.

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Section: Discussionmentioning

confidence: 99%

Managing the risk of cancer in Cowden syndrome: a case report

et al. 2012

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“…and fibrocystic breast disease. No breast cancer was detected in our patient [28,29]. Thyroid disease occurs in twothirds of patients including goiter, thyroiditis, and thyroid cancer.…”

Section: Discussion and Literature Reviewmentioning

confidence: 99%

Well differentiated thyroid tumor of unknown malignant potential (WDT UMP) associated with COWDEN syndrome

Junainah¹,

AlShanbari²,

Gandoura³

et al. 2014

J Histol Histopathol

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Cowden syndrome is a rare cancer predisposition syndrome inherited in an autosomal-dominant fashion. The syndrome is characterized by hamartomatous polyps that affect multiple organs: skin, mucous membranes, thyroid, breast, gastrointestinal tract, endometrium and brain. It is also associated with an increased risk of developing malignancy in many tissues but especially breast, thyroid and endometrium. Thyroid tumor is ranging from benign nodule to frank malignancy. We report a case of WDT UMP in 66 years old lady who has CS.

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“…Il n'y a pas de saut de génération documenté. Le génotype du syndrome n'est pas associé à un seul phénoype [19] : l'expression de l'affection est très variable d'une famille à l'autre, et même entre les différents individus au sein d'une même famille [20].…”

Section: Description Du Syndrome Epidémiologieunclassified

Syndrome de Cowden : mise au point (1^èrepartie)

Hauser-Casamenti

Hauser

Lombardi³

et al. 2011

Med Buccale Chir Buccale

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Mots clés : syndrome de Cowden / hamartomes / gène PTEN / transformation maligne Résumé -Le syndrome de Cowden est une affection rare, héréditaire, à transmission autosomique dominante. Il est caractérisé par l'apparition d'hamartomes multiples principalement sur le revêtement cutaneomuqueux, dans les seins, la glande thyroïde, le tractus gastro-intestinal, l'endomètre et le cerveau. Certaines lésions ont un potentiel de transformation maligne. Ce syndrome est dû à des mutations du gène PTEN. Faute de traitement curatif, la prise en charge comprend le traitement de manifestations cliniques et surtout la surveillance pour le dépistage de toute transformation maligne. En raison de la multiplicité des organes atteints, la prise en charge doit être pluridisciplinaire. L'aspect typique des lésions buccales permet au médecin-dentiste d'aider au diagnostic précoce et de s'intégrer dans l'équipe pluridisciplinaire. Les 7 cas présentés dans ce travail ont été retrouvés dans 2 familles genevoises, ils sont suivis dans la division de Stomatologie et Chirurgie orale de l'Ecole de Médecine Dentaire de Genève. Key words:Cowden syndrome / hamartomas / PTEN gene / malignant transformation Abstract -Cowden syndrome. Part 1: literature review. Cowden syndrome is a rare hereditary autosomal dominant disease resulting mainly from mutation in the PTEN gene. It is characterized by multiple hamartomas of the skin, oral mucosa, breast, thyroid gland, gastrointestinal tract, genitourinary tract, endometrium and CNS. Some of the lesions are at risk of malignant transformation. With the present lack of curative treatment taking care of patients includes management of clinical manifestations and particularly early detection of malignant conditions. Because of the multiplicity of organs affected patient care requires a broad multidisciplinary approach. The typical aspect of oral lesions allows the dentist to help in the early diagnosis and to take part in the multidisciplinary team.En mai 2007, un patient est venu consulter pour une lé-sion bourgeonnante sur la fibromuqueuse gingivale vestibulaire supérieure dans la région médiane, responsable d'une gêne esthétique. L'ensemble de la muqueuse buccale était recouvert par de nombreuses petites papules qui lui donnaient un aspect granuleux. En complétant l'anamnèse, le patient a alors expliqué qu'il était atteint d'une maladie génétique, le syndrome de Cowden.Pour la prise en charge de ce patient, on a été amené à consulter la littérature sur le sujet. On a alors découvert une affection faisant appel à des notions d'embryologie de génétique, de médecine et de carcinogenèse.Cette affection présente donc de multiples facettes dont l'une concerne la Médecine dentaire.

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La maladie de Cowden : une nouvelle observation pédiatrique

Cited by 6 publications

References 11 publications

Managing the risk of cancer in Cowden syndrome: a case report

Managing the risk of cancer in Cowden syndrome: a case report

Well differentiated thyroid tumor of unknown malignant potential (WDT UMP) associated with COWDEN syndrome

Syndrome de Cowden : mise au point (1^èrepartie)

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La maladie de Cowden : une nouvelle observation pédiatrique

Cited by 6 publications

References 11 publications

Managing the risk of cancer in Cowden syndrome: a case report

Managing the risk of cancer in Cowden syndrome: a case report

Well differentiated thyroid tumor of unknown malignant potential (WDT UMP) associated with COWDEN syndrome

Syndrome de Cowden : mise au point (1èrepartie)

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Syndrome de Cowden : mise au point (1^èrepartie)