Cowden Syndrome: report of a case and brief review of literature

Abstract

We present the case of a female patient with facial cutaneous lesions, a cobblestone-like pattern of the oral mucosa, and verruciform lesions on the hand since her youth. She reported a history of breast cancer, endometrial cancer, melanoma and multiple benign tumors and cysts. PTEN gene analysis was performed and confirmed Cowden Syndrome, a rare genodermatosis with an autosomal dominant pattern of inheritance, characterized by multiple hamartomas. The phosphatase and tensin homolog (PTEN) gene negatively regulates cell proliferation and cell cycle progression. Loss of PTEN function contributes to an increased risk of cancer. We emphasize the importance of early detection and accurate management of Cowden Syndrome.

Iris mammillations in a pair of twins with Cowden syndrome

“… 2 Cowden syndrome (CS) is a hereditary cancer syndrome characterized by the development of multiple hamartomas and an increased risk of malignant neoplasms in multiple organs. 3 Here we report on identical twins with CS in association with iris mammillations. To our knowledge, this is the first time this association has been reported.…”

“…CS usually presents in the second or third decade of life with a prevalence rate of 1 in 200,000. 3 , 9 , 10 …”

“…Other malignancies such as gastrointestinal, renal, and endometrial cancers and malignant melanoma are manifested in CS patients with various percentages in previous reports. 3 , 9 , 10 …”

Malignant tumors of the uterine corpus: molecular background of their origin

“…Also, use of tamoxifen was proven as a factor associated with an increased incidence of endometrial cancer (EC) [13]. Furthermore, the development of endometrial carcinoma can be connected with concrete genetic aberrations such as Lynch syndrome, which is associated with damaged genes MSH6, MSH2, or MLH1 [14], or Cowden syndrome [15].…”

Synchronous Bilateral Breast Carcinoma in a Patient with Cowden Syndrome with <i>PTEN</i> Mutation: A Case Report

“…Cowden syndrome (CS), or multiple hamartoma syndrome, is a rare hereditary autosomal dominant disorder caused by a mutation in the phosphatase and tensin homolog (PTEN) gene on chromosome 10 with characteristic hamartoma of multiple organs [1][2][3]. PTEN is a tumor suppressor gene that controls phosphate, which mediates proliferation, progression, and apoptosis in the cell proliferation [4]. The incidence of CS is 1/200,000 individuals, and this syndrome is very difficult to diagnose clinically.…”