Síndrome de Cowden: relato de um caso

Guimarães, Patrícia de Barros; Branco, Adeíza de Alencar; Carvalho, Elaine Judite de Amorim; Lima, Francisco Eduardo; Almeida, Jurandy; Santos, Josemir Belo dos; Villa, Luisa L.; Rodrigues, Sílvia Helena; Siqueira, Roberta Cardoso de; Perreli, Tatiana De

doi:10.1590/s0365-05962002000600009

Cited by 4 publications

(7 citation statements)

References 13 publications

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“…There are very few reported cases of SF within the oral mucosa [1,3,5,6,9]. To our knowledge, only nine SFs of the oral cavity have been published in the medical literature.…”

Section: Introductionmentioning

confidence: 99%

“…It presents as either solitary or multiple skin nodules, being an important marker in patients with Cowden syndrome (CS) [3][4][5], or as a sporadic, small, solitary cutaneous mass in healthy individuals [5].…”

Section: Introductionmentioning

confidence: 99%

“…First described in 1963 by Lloyd and Dennis [4], Cowden syndrome, or multiple hamartoma syndrome [1], is a rare autosomal-dominant inheritance genodermatosis [6], characterized by multiple hamartomas of ectodermal, mesodermal, and endodermal origins [4][5][6]. The phosphatase and tensin homolog (PTEN) gene negatively regulates cell proliferation and cell cycle progression [1].…”

Section: Introductionmentioning

confidence: 99%

“…Mucocutaneous lesions are present in 99 to 100% of cases [5] and are pathognomonic [4]. The characteristic mucocutaneous findings include a variety of benign and malignant neoplasms (including SF) of the skin (face, acral, and palmoplantar) [3].…”

Section: Introductionmentioning

confidence: 99%

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A Case Report of a Sclerotic Fibroma of the Oral Mucosa

Figueiredo¹,

Leite²,

Varela³

et al. 2022

Cureus

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Sclerotic fibroma, also known as storiform collagenoma, is a rare benign tumor that grows on the skin, but it can also appear, less frequently, in the oral mucosa. It can present as part of Cowden syndrome manifestation, especially when multiple lesions are encountered, but it may also appear as a solitary, sporadic lesion in healthy individuals. We describe a patient, diagnosed with Cowden syndrome, who presented with a sclerotic fibroma in the oral mucosa, which is a very uncommon manifestation of Cowden syndrome.

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“…There are very few reported cases of SF within the oral mucosa [1,3,5,6,9]. To our knowledge, only nine SFs of the oral cavity have been published in the medical literature.…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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A Case Report of a Sclerotic Fibroma of the Oral Mucosa

Figueiredo¹,

Leite²,

Varela³

et al. 2022

Cureus

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“…O quadro histológico das lesões bucais é bastante inespecífico, representando essencialmente hiperplasia fibroepitelial. O diagnóstico é clínico e o tratamento consiste em remoção das manifestações clínicas apresentadas pela síndrome, bem como tratamento da malignidade 9 . A síndrome Men IIB (multiple endocrine neoplasia ou neoplasia endocrina multipla) apresenta múltiplos neuromas em pele e mucosa, mucosas papulares, principalmente em lábios, orofaringe e conjuntiva.…”

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Síndromes Paraneoplásicas – O que o Cirurgião-Dentista Precisa Saber?

Silva¹,

Crivelini²,

Moraes³

et al. 2010

Odonto

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25Resumo Introdução: o termo paraneoplasia é um conjunto de distúrbios clínicos, bioquímicos, hormonais, neurológicos e/ou hematológicos associados com neoplasias malignas, mas não diretamente relacionados com invasão tumoral primária ou metástase. As síndromes paraneoplásicas podem ser o primeiro sinal de uma malignidade.Revisão de literatura: as síndromes que estão mais comumente relacionadas com a prática odontológica são: de Lambertt-Eaton, de Gardner, de Cowden, de Peutz-Jeghers, de Sjögren, a neoplasia endócrina múltipla, a neurofibromatose múltipla de Von Recklinghausen, o carcinoma nevóide de células basais, a acantose nigrans e o pênfigo paraneoplásico.Conclusão: o diagnóstico precoce das neoplasias malignas favorece o seu prognóstico e as síndromes paraneoplásicas auxiliam neste diagnóstico. É de suma importância que os Cirurgiões-dentistas conheçam tais síndromes de modo a diagnosticá-las o mais rápido possível e encaminhar os pacientes ao tratamento especializado. Palavras-chave: Síndromes Paraneoplásicas; Diagnóstico Precoce; Tratamento.AbstRACt Introduction: the term paraneoplastic is a clinical, biochemical, hormonal, neurological and/or associated disorder with hematologic malignancies, but not directly related to primary tumor invasion and metastasis. Paraneoplatic syndromes may be the first sign of a malignancy.Review of literature: the syndromes that are most commonly related to dentistry are of lambertt-Eaton, Gardner, Cowden disease, Peutz-Jeghers, Sjögren, multiple endocrine neoplasic, multiple neurofibromatosis of Von Recklinghausen, nevoid basal cell carcinoma, acanthosis nigrans and pemphigus paraneoplastic.Conclusion: early diagnosis of malignant neoplasms favors prognosis and paraneoplastic syndromes assist in diagnosis. It is important that surgeons-dentists know these events in order to diagnose them as soon as possible and refer these patients to specialized treatment.

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Cafe-au-lait spots as a clinical sign of syndromes

Carvalho

Martelli

Carvalho³

et al. 2021

RSD

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Several studies describe the frequent association of cafe-au-lait spots with neurofibromatosis. However, many other genetic diseases might be associated with the presence of café-au-lait spots. Several genetic diseases are rare. In most cases, syndromes present themselves as a set of signs and symptoms that may present varied penetrance, therefore largely reducing the percentage of final diagnosis. Exploration of clinical symptomatology is essential for the understanding and diagnosis of syndromes. In this review, we conduct an extensive literature search looking for research that investigated diseases that may be present simultaneously with the cafe-au-lait spots. A total of 60 genetic diseases were found, all of them rare. These syndromes were evaluated based on their most relevant features and described in a summary of the typical, general, and head and neck findings. The available OMIM number, mode of inheritance, chromosome, mutated genes, and affected proteins were also listed. The considerable variety of diseases associated with the presence of cafe-au-lait spots and the fact that many of these conditions affect various organ systems with diverse phenotypic presentations is a diagnostic and therapeutic challenge. The objective of this study was to provide health professionals with an instrument containing a broad spectrum of genetic diseases coincident with the presence of cafe-au-lait spots in order to facilitate the differential and final diagnosis of these syndromes.

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Síndrome de Cowden: relato de um caso

Cited by 4 publications

References 13 publications

A Case Report of a Sclerotic Fibroma of the Oral Mucosa

A Case Report of a Sclerotic Fibroma of the Oral Mucosa

Síndromes Paraneoplásicas – O que o Cirurgião-Dentista Precisa Saber?

Cafe-au-lait spots as a clinical sign of syndromes

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