Cowden syndrome

Abstract

Cowden syndrome or multiple hamartoma syndrome is an autosomal dominant condition with variable expressions that result mainly from mutation in the PTEN gene on arm 10q. It is characterized by multiple hamartomatous neoplasms of the skin, oral mucosa, gastrointestinal tract, bones, CNS, eyes, and genitourinary tract. Mucocutaneous features include trichilemmomas, oral mucosal papillomatosis, acral keratosis, and palmoplantar keratosis. Here we present a case of Cowden syndrome in a 14-year-old female patient with the chief complaint of multiple oral papillomatous lesions.

Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations

“…Eruption pathways and timing were normal, arguing for a diagnosis distinct from ERS. AI and hamartoma has been reported isolated or in several syndromes such as Cowden syndrome [52], Von Recklinghausen disease [53], and familial tuberous sclerosis [54]. Only a few cases of them appear to correspond to a complete description of ERS (Table 1 and Additional file 1) [31,32,35].…”

Mucocutaneous manifestations of Cowden's syndrome

“…But in 85% of the cases, mutation in the phosphate and tensin homolog (PTEN) tumor suppressor gene also termed as mutated in multiple advanced cancers (MMAC1) on chromosome 10q22-23 was observed. [567] The PTEN protein product is believed to promote cell death and lead to overproliferation of cells, due to the mutation that causes loss of protein function that may result in hamartomatous growths. [5]…”

“…[567] The PTEN protein product is believed to promote cell death and lead to overproliferation of cells, due to the mutation that causes loss of protein function that may result in hamartomatous growths. [5]…”

“…[6] The mucocutaneous lesions can be treated with 5-fluorouracil, retinoids, electrosurgery, cryosurgery, dermabrasion, laser abrasion, interferon-2α, bleomycin, and surgery. [511] In future, restoration of PTEN-associated molecular pathways may help to control the increased risk of cancer in these patients. [6] The overall prognosis of this syndrome depends on frequent followup, which is main key to survival.…”

Clinics in diagnostic imaging (159)

“…Patients with JPS have increased risk of colorectal, gastric and pancreatic carcinomas, and small intestinal adenocarcinoma. (1,14) Cowden syndrome (6,15) is an autosomal dominant trait. Patients with this syndrome may have facial or oral papillomas, fibromas and skin tumours, in contrast to the perioral pigmentation seen in patients with Peutz-Jeghers syndrome.…”