Cowden Syndrome: Case Report

Aims Cowden syndrome (CS) is a rare disease, inherited in an autosomal dominant pattern with an estimated incidence 1 in 200,000 to 250,000 people. It is associated with germline mutations in the phosphatase and tensin homologue (PTEN) gene. The pathognomonic features of CS are mucocutaneous lesions (trichilemmomas, acral ceratoses and pappilomatous lesions). Patients with CS have a high lifetime risk of breast, thyroid, uterine, and other cancers. Gastrointestinal polyposis is a common manifestation and can occur throughout the entire tract.

Methods Α 30-year-old, non-smoker male presented with epigastric pain and dyspeptic disorders. At clinical examination, macrocephaly was observed, whereas laboratory results and sonography of liver/bile ducts were all normal. Gastroscopy revealed esophageal acanthosis and multiple gastric/duodenal polyps. Under the suspicion of a possible hereditary polyposis syndrome, colonoscopy and capsule endoscopy were also performed. In capsule endoscopy, the known gastric and duodenal polyps were noted, whereas such polyps were also revealed up to the proximal jejunum (Fig.1).

Results In colonoscopy, we had the same findings with multiple polyps (0,2-0,8cm) throughout the entire length of colon and biopsies revealed hamartomatous polyps.

Genetic analysis of the phosphatase and tensin homologue (PTEN) gene revealed a heterozygous transition of G to C at nucleotide 165 in exon 3 (c165-1G>C). The rest genetic analysis was normal.Given the lifetime risk of cancers and especially of breast, thyroid and uterine is high, our patient carried out screening tests (sonography of thyroid, uterine and mammogram) with normal findings.

Fig.1

Conclusions Cowden syndrome is likely to be underdiagnosed. In cases with multi-organ tumors, diagnostic criteria for CS should be sought in order to increase the diagnostic rates. This is critically important due to syndrome’s cancer predisposition. Cancer surveillance for carcinoma detection in the early and curative stages remains the critical aspect of management.

Citation: Sofianidis G, Moschos I, Tikos G et al. eP166 COWDEN SYNDROME: CASE REPORT. Endoscopy 2021; 53: S150.

Publication History

Article published online:
19 March 2021