Sinonasal Polyposis: About 60 Cases at Fann University Hospital Center, Senegal

Introduction: Sinonasal polyposis (SNP) is a chronic inflammatory disease of the mucosa of the nasal cavities and facial sinuses. It is characterized by an oedematous, multifocal and bilateral degeneration of the nasosinus mucosa, which originates in the lateral masses of the ethmoid, where it causes the formation of smooth, gelatinous, translucent and pyriform polyp lesions. The objective of this study was to review epidemiological, clinical, paraclinical data and evaluate the results of endoscopic surgical treatment. Patients and Methods: This is a retrospective study on 60 patients followed at the ENT department of the Fann National University Hospital Center, from January 2010 to December 2015. All patients with sinonasal polyposis were included in the study. Results: The average age of our patients was 38 years and the sex ratio (M/F) was 0.8. In the patients’ histories, we found 18% asthma and 10% Widal’s disease. The average consultation time was 8.5 years. All patients had consulted for nasal obstruction;rhinorrhea was bilateral and found in 67.7% of cases, with olfactory disorders accounting for 50%. The CT scan performed in 58% of cases made it possible to specify the extent of the lesions;the involvement of the ethmoidal sinus was constant and extended to the other sinuses except in 2 cases. All patients had received medical treatment with local corticosteroids. Endoscopic surgical treatment was initiated in 43% of cases after failure of corticosteroid-based medical treatment. The evolution under treatment marked by the reappearance of symptoms that increased each month. At one month postoperatively, all clinical symptomatology had improved with the exception of olfactory disorders, which persisted in 3 patients. At 12 months we noted 12 cases of reappearance of nasal obstruction. Conclusion: SNP is a disease of little known etiology. The diagnosis is almost always clinical. Endoscopic surgery remains a recourse to medical treatment. For good local control, patients should be more respectful of good compliance with corticosteroid therapy.

APC gene mutations in Chinese familial adenomatous polyposis patients

AIM:To study the characteristics of APC(adenomatous polyposis coli)gene germline mutation in Chinese patients with familial adenomatous polyposis(FAP).METHODS:APC gene from 14 FAP families was amplified by polymerase chain reaction(PCR)and underwent direct sequencing to determine the micromutation type.For the samples without micromutation,the large fragment deletion of APC gene was examined by multiplex ligation-dependent probe amplification(MLPA).RESULTS:There were gene micromutations in 9 families with a micromutation detection rate of 64.3%(9/14),including 6 frameshift mutations(66.7%),1 nonsense mutation(11.1%)and 2 splicing mutations(22.2%).Large fragment deletions were detected by MLPA in 2 families.The total mutation detection rate of micromutations and large fragment deletions was 78.6%(11/14).CONCLUSION:The detection rate of APC gene germline mutation can be improved by direct sequencing combined with MLPA large fragment deletion detection.

Surgical treatment of familial adenomatous polyposis: Dilemmas and current recommendations

Familial adenomatous polyposis (FAP) is an autosomal dominant inherited syndrome characterized by multiple adenomatous polyps (predisposing to colorectal cancer development) and numerous extracolonic manifestations. The underlying genetic burden generates variable clinical features that may influence operative management. As a precancerous hereditary condition, the rationale of performing a prophylactic surgery is a mainstay of FAP management. The purpose of the present paper is to bring up many controversial aspects regarding surgical treatment for FAP, and to discuss the results and perspectives of the operative choices and approaches. Preferably, the decision-making process should not be limited to the conventional confrontation of pros and cons of ileorectal anastomosis or restorative proctocolectomy. A wide discussion with the patient may evaluate issues such as age, genotype, family history, sphincter function, the presence or risk of desmoid disease, potential complications of each procedure and chances of postoperative surveillance. Therefore, the definition of the best moment and the choice of appropriate procedure constitute an individual decision that must take into consideration patient’s preferences and full information about the complex nature of the disease. All these facts reinforce the idea that FAP patients should be managed by experienced surgeons working in specialized centers to achieve the best immediate and long-term results.

Aggressive juvenile polyposis in children with chromosome 10q23 deletion

Juvenile polyps are relatively common findings in children,while juvenile polyposis syndrome(JPS) is a rare hereditary syndrome entailing an increased risk of colorectal cancer.Mutations in BMPR1A or SMAD4 are found in roughly half of patients diagnosed with JPS.Mutations in PTEN gene are also found in patients with juvenile polyps and in Bannayan-Riley-Ruvalcaba syndrome and Cowden syndrome.Several previous reports have described microdeletions in chromosome 10q23 encompassing both PTEN and BMPR1A causing aggressive polyposis and malignancy in childhood.These reports have also described extra-intestinal findings in most cases including cardiac anomalies,developmental delay and macrocephaly.In this report we describe a boy with a 5.75 Mb deletion of chromosome 10q23 and a 1.03 Mb deletion within chromosome band 1p31.3who displayed aggressive juvenile polyposis and multiple extra-intestinal anomalies including macrocephaly,developmental delay,short stature,hypothyroidism,atrial septal defect,ventricular septal defect and hypospadias.He required colectomy at six years of age,and early colectomy was a common outcome in other children with similar deletions.Due to the aggressive polyposis and reports of dysplasia and even malignancy at a young age,we propose aggressive gastrointestinal surveillance in children with 10q23 microdeletions encompassing the BMPR1A and PTEN genes to include both the upper and lower gastrointestinal tracts,and also include a flowchart for an effective genetic testing strategy in children with juvenile polyposis.

Current status of familial gastrointestinal polyposis syndromes

Because of the rarity of familial gastrointestinal cancerpredisposing syndromes,their exploration in literature is not extensive.In this review,an update of the clinicopathological and molecular criteria of gastrointestinal familial polyposis syndromes with potential malignant transformation is performed.In addition,a guide for screening and surveillance was synthesized and a distribution of gene mutations according to the specific syndromes and geographic distribution was included.The following inherited polyposes syndromes were analyzed: familial adenomatous polyposis,the hamartomatous familial polyposes(Juvenile polyposis,Peutz-Jeghers syndrome,Cowden syndrome,BannayanRiley-Ruvalcaba syndrome,hereditary mixed polyposis syndrome,Gorlin syndrome,Birt-Hogg-Dube syndrome,neurofibromatosis type Ⅰand multiple endocrine neoplasia syndrome 2B),Li-Fraumeni syndrome,and MUTYHassociated adenomatous polyposis.For proper medical care,subspecialization of gastroenterologists,pathologists,and genticists in the field of familial diseases should be introduced in the medical curriculum.

Eviendep~ reduces number and size of duodenal polyps in familial adenomatous polyposis patients with ileal pouchanal anastomosis

AIM:To evaluate if 3 mo oral supplementation with Eviendep was able to reduce the number of duodenal polyps in familial adenomatous polyposis(FAP)patients with ileal pouch-anal anastomosis(IPAA).METHODS:Eleven FAP patients with IPAA and duodenal polyps were enrolled.They underwent upper gastrointestinal(GI)endoscopy at the baseline and after 3 mo of treatment.Each patient received 5 mg Eviendep twice a day,at breakfast and dinner time,for3 mo.Two endoscopists evaluated in a blinded manner the number and size of duodenal polyps.Upper GI endoscopies with biopsies were performed at the baseline(T0)with the assessment of the Spigelman score.Polyps>10 mm were removed during endoscopy and at the end of the procedure a new Spigelman score was determined(T1).The procedure was repeated 3 mo after the baseline(T2).Four photograms were examined for each patient,at T1 and T2.The examined area was divided into 3 segments:duodenal bulb,second and third portion duodenum.Biopsy specimens were taken from all polyps>10 mm and from all suspicious ones,defined by the presence of a central depression,irregular surface,or irregular vascular pattern.Histology was classified according to the updated Vienna criteria.RESULTS:At baseline the mean number of duodenal detected polyps was 27.7 and mean sizes were 15.8mm;the mean Spigelman score was 7.1.After polypectomy the mean number of duodenal detected polyps was 25.7 and mean sizes were 7.6 mm;the mean Spigelman score was 6.4.After 3 mo of Eviendep bid,all patients showed a reduction of number and size of duodenal polyps.The mean number of duodenal polyps was 8(P=0.021)and mean size was 4.4 mm;the mean Spigelman score was 6.6.Interrater agreement was measured.Lesions>1 cm found a very good degree of concordance(kappa 0.851)and a good concordance was as well encountered for smaller lesions(kappa 0.641).CONCLUSION:Our study demonstrated that shortterm(90 d)supplementation with Eviendep in FAP patients with IPAA and with recurrent adenomas in the duodenal mucosa,resulted effective in reducing polyps number of 32%and size of 51%.

Diagnosis and treatment of Gardner syndrome with gastric polyposis: A case report and review of the literature

Gardner syndrome (GS) is an autosomal dominant disease characterized by the presence of colonic polyposis, osteoma and soft tissue tumors. It is regarded as a clinical subgroup of familial adenomatous polyposis (FAP) and may present at any age from 2 mo to 70 years with a variety of symptoms, either colonic or extracolonic. We present a case of a 23-year-old female patient with GS who presented with gastric polyposis and was successively treated with restorative proctocolectomy in combination with ileal pouch anal anastomosis (RPC/ IPAA), ileostomy, ileostomy closure operation, snare polypectomy during 8 mo. After operation, the patient took oral traditional Chinese medicine pills made of Fructus mume and Bombyx batryticatu for about 6 mo. The innutrition and anaemia of this patient were gradually improved. Gastroscopy showed that the remnant gastric polypi gradually decreased and finally disappeared 19 mo after the first operation. The patient had 2-3 times of solid stool per day at the time we wrote this paper.

Attenuated adenomatous polyposis of the large bowel: Present and future

Attenuated adenomatous polyposis(AAP) is a poorly understood syndrome, that can be defined as the presence of 10-99 synchronous adenomas in the large bowel, and it is considered a phenotypic variant of familial adenomatous polyposis(FAP). This definition has the advantage of simplicity, but it may include sporadic multiple adenomas of the large bowel at an extreme, or FAP cases on the other side. AAP shows a milder phenotype than FAP, with an older age of onset of adenomas and cancer, and less frequent extracolonic manifestations. AAP may be diagnosed as a single case in a family or, less frequently, it may be present in other family members, and it shows distinct pattern of inheritance. In less than 50% of cases, it may be caused by adenomatous polyposis coli(APC) or MUTYH mutations, referred to as APC-associated polyposis, inherited as an autosomal dominant trait, or MUTYH-associated polyposis, which shows an autosomal recessive mechanism of inheritance, respectively. Surveillance should rely on colonoscopy at regular intervals, with removal of adenomas and careful histological examination. When removal of polyps is not possible or advanced lesions are observed, the surgical approach is mandatory, being subtotal colectomy with ileo-rectal anastomosis the treatment of choice. Studies on this syndrome are lacking, and controversies are still present on many issues, thus, other clinical and genetic studies are requested.

Proton pump inhibitors and an emerging epidemic of gastric fundic gland polyposis

Fundic gland polyps are now commonly recognized during endoscopy. These polyps are benign, often multiple and usually detected in the gastric body and fundus. In the past, these polyps were sometimes associated with familial adenomatous polyposis. In recent years, it has become evident that increasing numbers of these polyps are being detected during endoscopic studies, particularly in patients treated with proton pump inhibitors for prolonged periods. In some, dysplastic changes in these polyps have also been reported. Recent studies have suggested that there may be no increase in risk of colon cancer with long-term proton pump inhibitor therapy. While temporarily reassuring, ongoing vigilance, particularly in those genetically predisposed to colon cancer, is still warranted.

Risk of ileal pouch neoplasms in patients with familial adenomatous polyposis

Restorative proctocolectomy is the most common surgical option for patients with familial adenomatous polyposis(FAP). However,adenomas may develop in the ileal pouch mucosa over time,and even carcinoma in the pouch has been reported. We therefore reviewed the prevalence,nature,and treatment of adenomas and carcinoma that develop after proctocolectomy in the ileal pouch mucosa in patients with FAP. In 25 reports that were reviewed,the incidence of adenomas in the ileal pouch varied from 6.7% to 73.9%. Several potential factors that favor the development of pouch polyposis have been investigated,but many remain controversial. Nevertheless,it seems certain that the age of the pouch is important. The risk appears to be 7%to 16% after 5 years,35% to 42% after 10 years,and75% after 15 years. On the other hand,only 21 cases of ileal pouch carcinoma have been recorded in the literature to date. The diagnosis of pouch carcinoma was made between 3 to 20 years(median,10 years) after pouch construction. Although the risk of malignant transformation in ileal pouches is probably low,it is not negligible,and the long-term risk cannot presently be well quantified. Regular endoscopic surveillance,especially using chromoendoscopy,is recommended.

Cap polyposis refractory to Helicobacter pylori eradication treated with endoscopic submucosal dissection

Cap polyposis is a rare intestinal disorder. Characteristic endoscopic findings are multiple inflammatory polypoid lesions covered by caps of fibrous purulent exudate. Although a specific treatment has not been established, some studies have suggested that eradication therapy for Helicobacter pylori(H. pylori) is effective. We report a case of a 20-year-old man with cap polyposis presenting with hematochezia. Colonoscopy showed the erythematous polyps with white caps from the sigmoid colon to rectum. Histopathological findings revealed elongated, tortuous, branched crypts lined by hyperplastic epithelium with a mild degree of fibromusculosis in the lamina propria. Although H. pylori eradication was instituted, there was no improvement over six months. We then performed en bloc excision of the polyps by endoscopic submucosal dissection(ESD), which resulted in complete resolution of symptoms. ESD may be a treatment option for cap polyposis refractory to conservative treatments. We review the literature concerning treatment for cap polyposis and clinical outcomes.

Ulcerative colitis with inflammatory polyposis in a teenage boy:A case report

Ulcerative colitis in addition to inflammatory polyposis is common.The benign sequel of ulcerative colitis can sometimes mimic colorectal carcinoma.This report describes a rare case of inflammatory polyposis with hundreds of inflammatory polyps in ulcerative colitiswhich was not easy to distinguish from other polyposis syndromes.A 16-year-old Chinese male suffering from ulcerative colitis for 6 mo underwent colonoscopy,and hundreds of polyps were observed in the sigmoid,causing colonic stenosis.The polyps were restricted to the sigmoid.Although rectal inflammation was detected,no polyps were found in the rectum.A diagnosis of inflammatory polyposis and ulcerative colitis was made.The patient underwent total colectomy and ileal pouch anal anastomosis.The patient recovered well and was discharged on postoperative day 8.Endoscopic surveillance after surgery is crucial as ulcerative colitis with polyposis is a risk factor for colorectal cancer.Recognition of polyposis requires clinical,endoscopic and histopathologic correlation,and helps with chemoprophylaxis of colorectal cancer,as the drugs used postoperatively for colorectal cancer,ulcerative colitis and polyposis are different.

Filiform polyposis in the sigmoid colon: A case series

Filiform polyposis is a rare condition of uncertain patho-genesis that is usually found in association with Crohn’s disease, ulcerative colitis, intestinal tuberculosis or histiocytosis X. We report seven interesting cases of polyposis with various pathologic components, mainly located in the left side of the colon with no associated inflammatory bowel disease, intestinal tuberculosis or histiocytosis X. Multiple finger-like polypoid lesions with the appearance of stalactites were noted on the left side of the colon, especially in the sigmoid area, at the time of colonoscopy. The polyps had a variety of sizes and shapes and were shown to have various histopathologic components among the different patients. Although filiform polyposis localized in the sigmoid colon appears not to have high oncogenic potential, periodic follow-up seems to be needed.

Clinicopathological features of familial adenomatous polyposis in Korean patients

AIM: To identify prognostic factors and to correlate APC mutations with clinical features, including extracolic manifestations. METHODS: One hundred thirty-five patients who underwent surgical procedures for familial adenomatous polyposis(FAP) were included. FAP was diagnosed when the number of adenomatous polyps was > 100. Data related to patient, extracoloic manifestations, cancer characteristics, operative procedure, follow up and surveillance were collected. APC mutation testing was performed in the 30 most recent patients. DNA was extracted from peripheral blood and polymerase chain reaction products using 31 primer pairs on APC gene were sequenced. A retrospective study was performed to investigate a causal relationship between prognosis and feature of patient.RESULTS: The mean age of the 51 patients with colorectal cancer(CRC) was older than that of those without CRC(30.5 vs 36.9, P = 0.002). Older individuals were more likely to have colon cancer at the time of FAP diagnosis [odds ratio, 4.75(95%CI: 1.71-13.89) and 5.91(1.76-22.12) for 40-49 years and age > 50 vs age < 30). The number of confirmed deaths was 13 and the median age at death was 40 years(range, 27 to 85 years). Ten of the deaths(76.9%) were from CRC. Another cause of two cases of death were desmoid tumors(15.4%). Development of cancer on remnant rectal or ileal mucosa after surgery was not observed. The APC mutation testing revealed 23 pathogenic mutations and one likely pathogenic mutation, among which were four novel mutations. The correlation between mutational status and clinical manifestations was investigated. Mutations that could prodict poor prognosis were at codon 1309 which located on mutation cluster region, codon 1465 and codon 1507.CONCLUSION: Identification of APC mutations should aid in the diagnosis and counseling of family members in terms of early diagnosis and management of FAP.

Protein-losing pseudomembranous colitis with cap polyposis-like features

Protein-losing enteropathy(PLE) is characterized by loss of serum proteins into the gastrointestinal tract. It may lead to hypoproteinemia and clinically present as protein deficiency edema, ascites, pleural or pericardial effusion and/or malnutrition. In most cases the site of protein loss is the small intestine. Here we present an unusual case of severe PLE in a 55-year old female with a one-year history of recurrent diarrhea, crampy abdominal pain, and peripheral edema. Endoscopy and MRI showed a diffuse inflammatory thickening of the sigmoid colon and the rectum. Surgical resection of the involved colon was performed and the symptoms were significantly resolved. The final histologic evaluation confirmed a diagnosis of a pseudomembranous colitis with cap polyposis-like features. Such a cause of PLE has never been described before.

Gastric and duodenal polyps in familial adenomatous polyposis patients: Conventional endoscopy vs virtual chromoendoscopy(fujinon intelligent color enhancement) in dysplasia evaluation

AIM To test the fujinon intelligent color enhancement(FICE) in identifying dysplastic or adenomatous polyps in familial adenomatous polyposis(FAP) patients.METHODS Seventy-six consecutive FAP patients, already treated by colectomy and members of sixty-five families, were enrolled. A FICE system for the upper gastro-intestinal tract with an electronic endoscope system and a standard duodenoscope(for side-viewing examination) were used by two expert examiners. Endoscopic resection was performed with diathermic loop for polyps ≥ 6 mm and with forceps for polyps < 6 mm. Formalin-fixed biopsy specimens were analyzed by two expert gastrointestinal pathologists blinded to size, location and number of FAPassociated fundic gland polyps.RESULTS Sixty-nine(90.8%) patients had gastric polyps(34 only in the corpus-fundus, 7 only in the antrum and 28 in the whole stomach) and 52(68.4%) in duodenum(7 in the bulb, 35 in second/third duodenal portion, 10 both in the bulb and the second portion of duodenum). In the stomach fundus after FICE evaluation, 10 more polyps were removed from 10 patients for suspicious features of dysplasia or adenomas, but they were classified as cystic fundic gland after histology. In the antrum FICE identified more polyps than traditional endoscopy, showing a better tendency to identify adenomas and displastic areas. In the duodenum FICE added a significant advantage in identifying adenomas in the bulb and identified more polyps in the Ⅱ/Ⅲ portion.CONCLUSION FICE significantly increases adenoma detection rate in FAP patients but does not change any Spigelman stage and thus does not modify patient's prognosis and treatment strategies.

Rare combination of familial adenomatous polyposis and gallbladder polyps

Familial adenomatous polyposis is associated with a high incidence of malignancies in the upper gastrointestinal tract (particularly ampullary adenocarcinomas). However, few reports have described a correlation between familial adenomatous polyposis and gallbladder neoplasms. We present a case of a 60-year-old woman with familial adenomatous polyposis who presented with an elevated mass in the neck of the gallbladder (measuring 16 mm &#x000d7; 8 mm in diameter) and multiple small cholecystic polyps. She had undergone a total colectomy for ascending colon cancer associated with familial adenomatous polyposis 22 years previously. The patient underwent laparoscopic cholecystectomy under a preoperative diagnosis of multifocal gallbladder polyps. Pathologic examination of the resected gallbladder revealed more than 70 adenomatous lesions, a feature consistent with adenoma of the gallbladder. This case suggests a requirement for long-term surveillance of the biliary system in addition to the gastrointestinal tract in patients with familial adenomatous polyposis.

Familial adenomatous polyposis and changes in the gut microbiota: New insights into colorectal cancer carcinogenesis

Patients with familial adenomatous polyposis(FAP),an autosomal dominant hereditary colorectal cancer syndrome,have a lifetime risk of developing cancer of nearly 100%.Recent studies have pointed out that the gut microbiota could play a crucial role in the development of colorectal adenomas and the consequent progression to colorectal cancer.Some gut bacteria,such as Fusobacterium nucleatum,Escherichia coli,Clostridium difficile,Peptostreptococcus,and enterotoxigenic Bacteroides fragilis,could be implicated in colorectal carcinogenesis through different mechanisms,including the maintenance of a chronic inflammatory state,production of bioactive tumorigenic metabolites,and DNA damage.Studies using the adenomatous polyposis coliMin/+mouse model,which resembles FAP in most respects,have shown that specific changes in the intestinal microbial community could influence a multistep progression,the intestinal“adenoma-carcinoma sequence”,which involves mucosal barrier injury,low-grade inflammation,activation of the Wnt pathway.Therefore,modulation of gut microbiota might represent a novel therapeutic target for patients with FAP.Administration of probiotics,prebiotics,antibiotics,and nonsteroidal anti-inflammatory drugs could potentially prevent the progression of the adenoma-carcinoma sequence in FAP.The aim of this review was to summarize the best available knowledge on the role of gut microbiota in colorectal carcinogenesis in patients with FAP.

Cap polyposis: A rare cause of rectal bleeding in children

AIM: To evaluate the clinicopathological features and treatment outcomes of cap polyposis in the pediatric population. METHODS: All pediatric patients with histologically proven diagnosis of cap polyposis were identified from our endoscopy and histology database over a 12 year period from 2000-2012 at our tertiary pediatric center, KK Women's and Children's Hospital in Singapore. The case records of these patients were retrospectively reviewed. The demographics, clinical course, laboratory results, endoscopic and histopathological features, treatments, and outcomes were analyzed. The study protocol was approved by the hospital institutional review board. The histological slides were reviewed by a pediatric histopathologist to confirm the diagnosis of cap polyposis. RESULTS: Eleven patients were diagnosed with cap polyposis. The median patient age was 13 years (range 5-17 years); the sample included 7 males and 4 females. All of the patients presented with bloody stools. Seven patients (63%) had constipation, while 4 patients (36%) had diarrhea. All of the patients underwent colonoscopy and polypectomies (excluding 1 patient who refused polypectomy). The macroscopic findings were of polypoid lesions covered by fibrinopurulent exudates with normal intervening mucosa. The rectum was the most common involvement site (n = 9, 82%), followed by the rectosigmoid colon (n = 3, 18%). Five (45%) patients had fewer than 5 polyps, and 6 patients (65%) had multiple polyps. Histological examination of these polyps showed surface ulcerations with a cap of fibrin inflammatory exudate. Four (80%) patients with fewer than 5 polyps had complete resolution of symptoms following the polypectomy. One patient who did not consent to the polypectomy had resolution of symptoms after being treated with sulphasalazine. All 6 patients with multiple polyps experienced recurrence of bloody stools on follow-up (mean = 28 mo). CONCLUSION: Cap polyposis is a rare and underrecognised cause of rectal bleeding in children. Our study has characterized the disease phenotype and treatment outcomes in a pediatric cohort.

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

Cowden's disease, one of the several hamartoma syndromes, is characterized by hyperplastic lesions and hamartomas distributed in the whole body. About thirty percent of patients with Cowden's disease have been reported to be complicated by malignant tumors. Based on the criteria of the International Cowden Consortium, this disease is mainly diagnosed as trichilemmoma of the face and oral mucosal papillomatosis. However, Cowden's disease patients themselves often do not recognize trichilemmoma of the face and oral mucosal papillomatosis. We report a case of Cowden's disease in a 33-year-old female patient who was diagnosed based on the characteristic findings at gastrointestinal endoscopy. Clinically, the patient was aware of having bloody stools. Multiple polyps found endoscopically in the esophagus, stomach, ileum, colon and rectum showed histopathologically hamartomatous changes and epithelial hyperplasia. Physical examination revealed oral papillomatosis and facial trichilemmomas. A germline mutation in exon 8 of the phosphatase and tensin homolog deleted on chromosome ten (PTEN) gene was found in this case. It was a point mutation of C to T at codon 1003 (CGA→TGA, arginine→stop codon). The characteristic findings on gastrointestinal endoscopy led us to a diagnosis of Cowden's disease. It has been reported that gastrointestinal polyposis with esophageal polyposis is found in about 85.7% of Japanese patients with Cowden's disease. The characteristic findings on gastrointestinal endoscopy can be a useful diagnostic clue to Cowden's disease.