Gastrointestinal polyposis with esophageal polyposis is useful for early diagnosis of Cowden’s disease

Figure 1 Polyposis in the rectum. A: Colonoscopy showing multiple polyps in the terminal ileum, colon and rectum, which gave the macroscopic appearance of smooth lesions. Moreover, the size of all polyps was within 5 mm or smaller; B: Pathological appearance of multiple polyps with all biopsy specimens of these lesions showing epithelial hyperplasia. These specimens were diagnosed histopathologically as hyperplastic polyps (arrow).

Figure 2 Double contrast X-ray study (A) and double contrast X-ray study (B) showing multiple small polypoid lesions in the ileum, colon and rectum.

Figure 3 Polypoid lesions in the stomach. A: Endoscopy of the upper digestive tract showing whitish polypoid lesions in the stomach. The size of all these polyps was within 10 mm; B: Gastric polyps showing histopathologically hamartomatous changes and epithelial hyperplasia. A specimen was diagnosed as a hamartoma by histopathological examination.

Figure 4 Polypoid lesions in the esophagus. A: Endoscopy of the upper digestive tract showing whitish polypoid lesions in the esophagus and macroscopic appearance of smooth lesions. The size of all these polyps was within 5 mm; B: Pathological appearance of the esophagus. Histlogically, a specimen confirmed the diagnosis of glycogenic acanthosis.

Figure 5 Many polyps in the gingiva (A) and pathological appearance of the gingiva confirming the diagnosis of papilloma(B).

Figure 6 Small papules found on face with their size within 5 mm (A) and pathological appearance of small papules confirming the diagnosis of trichilemmoma (B).

Figure 7 A germline mutation of phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene. A: Genetic analyses performed with informed consent clarified a germline mutation of the PTEN gene in exon 8 of the PTEN gene, which was a point mutation of C to T at codon 1003 (CGA→TGA, arginine→stop codon); B: Control.