A clinicopathological study of the oral lesions of Cowden disease

Hammerschmidt, Mariana; Lourenço, Sílvia Vanessa; Nico, Marcello Menta Simonsen

doi:10.1111/jop.12519

Cited by 9 publications

(6 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The median age of cancer diagnosis in patients diagnosed with CS is around 36 years, with cumulative lifetime risks of 85-90% in females and 81-88% in males [1]. Also, the mean age of patients diagnosed with CS varies in the literature, being reported between 36 and 50.5 years [11,[16][17][18][19].…”

Section: Pathophysiology Of the Phtsmentioning

confidence: 99%

Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review

Pîrlog,

Pătrășcanu,

Militaru

et al. 2024

Medicina

View full text Add to dashboard Cite

PTEN Hamartoma Tumour Syndrome (PHTS) encompasses diverse clinical phenotypes, including Cowden syndrome (CS), Bannayan–Riley–Ruvalcaba syndrome (BRRS), Proteus syndrome (PS), and Proteus-like syndrome. This autosomal dominant genetic predisposition with high penetrance arises from heterozygous germline variants in the PTEN tumour suppressor gene, leading to dysregulation of the PI3K/AKT/mTOR signalling pathway, which promotes the overgrowth of multiple and heterogenous tissue types. Clinical presentations of CS range from benign and malignant disorders, affecting nearly every system within the human body. CS is the most diagnosed syndrome among the PHTS group, notwithstanding its weak incidence (1:200,000), for which it is considered rare, and its precise incidence remains unknown among other important factors. The literature is notably inconsistent in reporting the frequencies and occurrences of these disorders, adding an element of bias and uncertainty when looking back at the available research. In this review, we aimed to highlight the significant disparities found in various studies concerning CS and to review the clinical manifestations encountered in CS patients. Furthermore, we intended to emphasize the great significance of early diagnosis as patients will benefit from a longer lifespan while being unceasingly advised and supported by a multidisciplinary team.

show abstract

Section: Pathophysiology Of the Phtsmentioning

confidence: 99%

Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review

Pîrlog,

Pătrășcanu,

Militaru

et al. 2024

Medicina

View full text Add to dashboard Cite

show abstract

“…HPV DNA expression is reported in some case reports; but could not be detected in others (Leao, Batista, Guimaraes, Belo, & Porter, 2005;Stierman, Chen, Nuovo, & Thomas, 2010). In a recent study, the histopathological features of nine CD-related oral lesions were analyzed in detail and presence of koilocytosis, acanthosis, and papillomatosis was reported in all samples (Hammerschmidt, Lourenco, & Nico, 2017). The proposed diagnostic criteria of National Comprehensive Cancer Center (NCCN) for CD includes mucocutaneous lesions as a major criterion including at least one biopsy-proven trichilemmoma, multiple palmoplantar keratoses, multifocal or extensive oral mucosal papillomatosis and multiple facial papules and does not involve viral warts ("The NCCN 3.2019, NCCN genetic/familial high-risk assessment: Breast and ovary, Cowden syndrome, clinical practice guidelines in oncology").…”

Section: ) the Absence Of The Critical Restraining Role Of Pten On Pi3kmentioning

confidence: 99%

Oral hamartomatous lesion of Cowden's disease treated with the combination of erbium:YAG laser and topical sirolimus

Botsalı

Çalışkan

Eşme

et al. 2019

Dermatologic Therapy

View full text Add to dashboard Cite

“…Current research indicates that CS manifests diverse and distinctive features in oral clinical presentations. These lesions encompass mucosal papules, warts, and multiple papillomatosis within the oral cavity (6)(7)(8). A comprehensive understanding of the relationship between CS, associated with PTEN gene mutations, and its oral clinical manifestations holds significant importance for improving the diagnosis, treatment, and management of this condition.…”

mentioning

confidence: 99%

Case report: Rare oral manifestations in Cowden syndrome with PTEN mutation

Yuan,

Liu,

Sun

et al. 2024

Front. Oncol.

View full text Add to dashboard Cite

BackgroundCowden syndrome (CS) is a rare genetic disorder associated with PTEN gene mutations. It is characterized by macrocephaly, specific mucocutaneous features, and a predisposition to benign and malignant tumors. Cases of CS primarily presenting with oral clinical manifestations are relatively uncommon.Methods/ResultsWe report the case of a 41-year-old male proband who presented with bilateral commissural and lingual externally projecting symmetric lesions for over two years. The proband also exhibited other features, including macrocephaly, communication difficulties, and obesity. Similar oral clinical manifestations were observed in family members. Whole exome sequencing analysis revealed PTEN gene mutations associated with CS in both the proband and his younger brother. This case serves as a reminder to be aware of the diverse presentations of CS in oral clinical practice and highlights the importance of genetic testing for guiding diagnosis and treatment.ConclusionThere are few reported cases of CS primarily presenting with oral lesions. This finding contributes to further understanding of certain aspects of the pathogenesis of CS and enhances awareness of CS cases primarily exhibiting oral clinical manifestations.

show abstract

A clinicopathological study of the oral lesions of Cowden disease

Abstract: Our findings seem to reinforce the poorly understood hypothesis that the mucocutaneous manifestations of Cowden disease are in reality viral warts. Additional studies are needed to explain why a syndrome caused by the mutation of a tumour suppression gene may cause propensity to warts.

Cited by 9 publications

References 21 publications

Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review

Insights into Clinical Disorders in Cowden Syndrome: A Comprehensive Review

Oral hamartomatous lesion of Cowden's disease treated with the combination of erbium:YAG laser and topical sirolimus

Case report: Rare oral manifestations in Cowden syndrome with PTEN mutation

Contact Info

Product

Resources

About