ABSTRACT
Cowden's disease, a rare autosomal dominant disorder characterized by benign hamartomatous overgrowth of various tissues, increases the risk of cancer of the thyroid, breast, endometrium, prostate, and possibly other organs. Generally, germline mutations in the coding sequence for PTEN are found in 80% of patients with Cowden's disease. Here we report a rare case of incidentally discovered gastric polyposis during esophagogastroscopy for medical screening in a patient with a history of surgery for breast and thyroid cancer. Identifyng the mutation in the PTEN gene to a diagnosis of Cowden's disease.
Subject(s)
Female , Humans , Breast , Clinical Coding , Endometrium , Endoscopy , Germ-Line Mutation , Hamartoma Syndrome, Multiple , Mass Screening , Prostate , Thyroid NeoplasmsABSTRACT
Cowden syndrome is very rare clinical condition with characteristic mucocutaneous lesions associated with abnormalities of the breast, thyroid, and gastrointestinal tract. Here, the case of a 16-year-old girl with diverse gastrointestinal polyposis with breast and thyroid lesions is reported as a definite case of Cowden syndrome. During follow up for 4 years, changes in the characteristic lesions were observed; Esophageal acanthosis and oropharyngeal polyps were newly developed. Gastric, duodenal, rectal and ileal polyps were noted at the first visit when she was 12 years of age and revealed histologically hyperplastic polyps. Mucocutaneous lesions, the pathognomonic finding of Cowden syndrome, were not noted at the first visit or during the follow up period. Breast and thyroid masses were noted at the first visit. Breast aspiration showed highly cellular ductal epithelial fragments and fibroblastic stromal cell fragments, and a thyroid biopsy shows proliferation of irregular sized follicles, with variable colloid contents. Macrocephaly was also noted at the first visit. The characteristic lesions of Cowden syndrome change with the patient's age, and the long-term follow up is recommended in cases suspected with this syndrome.
Subject(s)
Adolescent , Female , Humans , Biopsy , Breast , Colloids , Fibroblasts , Follow-Up Studies , Gastrointestinal Tract , Hamartoma Syndrome, Multiple , Megalencephaly , Polyps , Stromal Cells , Thyroid GlandABSTRACT
BACKGROUND/AIMS: Cowden's disease is an autosomal dominant hereditary disease characterized by the various hamartomatous and neoplastic lesions of multiple organs. We analyzed gastrointestinal manifestations of 5 cases of Cowden's disease and suggest several findings which are helpful to gastroenterologists for the early diagnosis. METHODS: The clinical characteristics of 5 unrelated patients with Cowden's disease were evaluated. Four patients were male, one patient was female, and their ages at the time diagnosis ranged from 17 to 49 years. All patients had the pathognomonic mucocutaneous lesions and thyroid nodules. RESULTS: In all patients, the esophagus was affected by acanthosis. In 4 patients, the stomach was affected by numerous variable sized polyps. In 4 patients, the duodenum was involved by several polyps. In 4 patients, the entire small bowel and in one patients, only the terminal ileum was affected by numerous polyps. In all patients, the colon, especially the sigmoid colon and rectum, showed numerous variable sized polyps. Family history was positive for stomach cancer in two patients. CONCLUSIONS: Cowden's disease should be considered in patients with esophageal acanthosis among patients with colonic polyposis, although the mucocutaneous lesions, unfamiliar to gastroenterolgists, are pathognomonic criteria for the diagnosis.