Gastric cancer and paraneoplastic dermatomyositis as complications of an unrecognized juvenile polyposis syndrome.

Juvenile polyposis syndrome is a rare autosomal-dominant disorder characterized by multiple hamartomatous polyps in the gastrointestinal tract. It is associated with an increased risk of gastrointestinal cancer. We report the case of a 49-year-old woman presenting with proximal muscle weakness, weight loss, severe anemia, and melena. One year before, the diagnosis of a "fundic gland polyposis" was presumed after endoscopic evaluation for iron deficiency anemia had shown numerous polyps limited to the gastric mucosa. On admission, the diagnosis of dermatomyositis was made based on laboratory results with a marked elevated creatine kinase as well as the presence of characteristic clinical findings and muscle histology. Upper endoscopy revealed multiple pedunculated, edematous polyps in the stomach without apparent cancerous lesions intraluminally. Infiltration of the muscular layer was not detectable on endoscopic ultrasound. Histopathological examination of the polyps showed smooth outer surfaces and multiple dilated cystic glands, consistent with hamartomatous juvenile-type polyps. Magnetic resonance imaging revealed a peritoneal mass close to the greater curvature of the stomach, which was identified as a poorly differentiated adenocarcinoma by laparoscopic sampling. Immunohistochemical analysis of resected polyps was remarkable for a loss of SMAD4 expression, a finding that is very commonly observed in patients with gastric juvenile polyposis syndrome. Despite initial treatment response to glucocorticoids and chemotherapy, the patient died 5 months later due to progressive illness. Patients with gastric juvenile polyposis and SMAD4 mutations are at a high risk of developing gastric cancer; hence, early gastrectomy should be considered.

Intestinal intussusception in adults: tomographic findings and report of two cases.

Intestinal intussusception is infrequent in adults. Unlike what happens in kids, it shows a demonstrable etiology in most cases: polyps, lipomas, hamartomas, malignancies, etc. Among diagnostic methods, CT scan is the study that yields the best results for the diagnosis, giving forth pathognomonic signs and favoring therapeutic decision-making. Two cases of intestinal intussusception in adults secondary to benign pathology are analyzed, stressing mainly the tomographic findings and some considerations about therapeutic decision-making based on tomographic results.

A case of Cronkhite-Canada syndrome with repeated linked color imaging observation of the subepithelial capillary network in the colon.

Cronkhite-Canada syndrome (CCS) is a non-hereditary disorder characterized by non-neoplastic gastrointestinal polyposis and ectodermal changes. While corticosteroids are considered effective, some cases are refractory. A 48-year-old woman presented with diarrhea, anorexia, and epigastralgia lasting for 3 months. She suffered from alopecia and nail dystrophy. Gastrointestinal endoscopy with histological examination confirmed non-neoplastic polyposis from the stomach to the rectum, confirming the diagnosis of CCS. Linked color imaging (LCI) with magnified endoscopy revealed a ribbon-like proliferation of capillaries surrounding the pits in the colonic mucosa. Histologically, the polyps had dilated glands, edematous stroma with inflammatory cell infiltrates and increased capillaries just beneath the epithelium. Immunohistochemical examination confirmed the expression of vascular endothelial growth factor (VEGF), mainly in the superficial epithelial and crypt cells. Steroid therapy was ineffective, and concomitant infliximab therapy provided symptomatic relief. Although symptoms rapidly improved with combination therapy, capillary hyperplasia and slight inflammation persisted in the colon mucosa after polyp resolution. Withdrawal of steroid treatment resulted in flare-ups of symptoms and polyps. Repeated magnified observations at LCI during post-relapse retreatment clearly captured the resolution process of both neovascularization and inflammation. Once the capillary hyperplasia and inflammation subsided, the steroid could be tapered off without relapse. To our knowledge, this is the first report describing the involvement of VEGF-induced angiogenesis and LCI findings in CCS; LCI observations are useful not only in the active phase of CCS, but also in determining subtle capillary hyperplasia and residual inflammation in remission, which may be an indicator of continued treatment.

[A case of Cronkhite-Canada syndrome in which contrast radiologic examinations of the digestive tract were performed at the time of development of the clinical symptoms].

We encountered a case of Cronkhite-Canada syndrome in which contrast radiologic examinations of the upper and lower digestive tract were performed immediately before and after the development of the clinical symptoms. These contrast radiologic images showed mainly mucosal coarseness and no polyposis of the stomach and colon. The endoscopy, performed 3 months later from the development of the clinical symptoms, revealed polyposis of the stomach and colon. So we recognized that the clinical symptoms developed before appearance of the polyposis of the digestive tract and the polyposis progressed rapidly.

Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults­Secondary Publication

Juvenile polyposis syndrome (JPS) is a rare disease characterized by multiple hamartomatous polyps within the gastrointestinal tract. SMAD4 or BMPR1A is known as a causative gene of JPS. Approximately 75% of newly diagnosed cases have an autosomal-dominantly inherited condition, whereas 25% are sporadic without previous history of polyposis in the family pedigree. Some patients with JPS develop gastrointestinal lesions in childhood and require continuous medical care until adulthood. JPS is classified into three categories according to phenotypic features of polyp distributions, including generalized juvenile polyposis, juvenile polyposis coli, and juvenile polyposis of the stomach. Juvenile polyposis of the stomach is caused by germline pathogenic variants of SMAD4 with a high risk leading to gastric cancer. Pathogenic variants of SMAD4 are also associated with hereditary hemorrhagic telangiectasia-JPS complex, inducing regular cardiovascular survey. Despite growing concerns regarding the managing JPS in Japan, there are no practical guidelines. To address this situation, the guideline committee was organized by the Research Group on Rare and Intractable Diseases granted by the Ministry of Health, Labor and Welfare involving specialists from multiple academic societies. The present clinical guidelines explain the principles in the diagnosis and management of JPS with three clinical questions and corresponding recommendations based on a careful review of the evidence and involve incorporating the concept of the Grading of Recommendations, Assessment, Development, and Evaluation system. Herein, we present the clinical practice guidelines of JPS to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent, and adult patients with JPS.

Long-lasting remission in a case of Cronkhite-Canada syndrome.

Cronkhite-Canada syndrome is a rare disease characterised by diffuse gastrointestinal polyposis, diarrhoea, weight loss, skin hyperpigmentation, onychodystrophy and alopecia. More than 500 cases have been described in the medical literature so far. The disease is probably caused by immune-mediated inflammatory mechanisms, and the diagnosis is based on clinical history, physical examination, endoscopic findings and histology. Differentiating this condition from other clinical entities presenting with similar signs and symptoms may be challenging. We present here the case of a 70-year-old Sardinian man where apparently the syndrome was induced by a mental strain triggered by a work-related accident. Continuous treatment with low-dose of antidepressant, anti-inflammatory and immunosuppressive medications in addition to nutritional support was remarkably effective and resulted in sustained (longer than 8 years) disappearance of clinical manifestations as well as the persistence of physical and psychological well-being. This case argues against the poor prognosis previously ascribed to patients with this syndrome.

An unusual case of hamartomatous polyposis with malignancy complication in a patient with ulcerative colitis treated with golimumab.

We report an unusual case of hamartomatous polyposis with malignant complications in a patient with ulcerative colitis on golimumab and previous thiopurine therapy. This patient was evaluated for iron deficiency anemia and underwent hemicolectomy for extensive right-side predominant inflammatory pseudopolyps. Anemia persisted post-colectomy and subsequent gastroscopy showed a fungating polypoid lesion along with numerous carpet-like strawberry appearing polyps in the stomach extending from the gastro-esophageal junction to the distal part of the antrum, necessitating a gastrectomy. Histology showed extensive hamartomatous-like polyps with adenocarcinoma and nodal metastases. Presence of alopecia totalis and hamartomas in this patient raise the possibility of Cronkhite-Canada Syndrome although this may also represent an undescribed hamartomatous polyposis associated with ulcerative colitis. Even though thiopurine analogue and anti-tumor necrosis factor agents have not been associated with increased risk of solid tumors, immunosuppression in patients with extensive polyposis should be cautiously used due to the potential accelerated malignancy risk. This case also highlights the importance of performing additional imaging of the gastrointestinal tract, in inflammatory bowel disease patients with anemia, particularly if the severity is incongruent with disease activity.

[Two cases of the rare Cronkhite-Canada syndrome].

Cronkhite-Canada syndrome (CCS) is a rare non-heritable condition characterized by gastrointestinal polyposis, dysgeusia, malnutrition, total alopecia and onychodystrophia. Two Danish cases of CCS (an 88-year-old female and a 69-year-old male) presented with signs of malnutrition, dyspepsia, vomiting, dysgeusia and hair loss. An upper endoscopy revealed marked oedema and polyposis in the stomach. Both patients developed colonic adenocarcinomas which were radically operated. Treatment consisted of hyperalimentation, prednisolone and azathioprine. Both patients went into remission - the first patient totally.

Mass-forming lesions of the duodenum: A pictorial review.

Recent advances in imaging have resulted in marked changes in the investigation of the duodenum, which still remains primarily evaluated with videoendoscopy. However, improvements in computed tomography (CT) and magnetic resonance (MR) imaging have made detection and characterization of duodenal mass-forming abnormalities easier. The goal of this pictorial review was to illustrate the most common conditions of the duodenum that present as mass-forming lesions with a specific emphasis on CT and MR imaging. MR imaging used in conjunction with duodenal distension appears as a second line imaging modality for the characterization of duodenal mass-forming lesions. CT remains the first line imaging modality for the detection and characterization of a wide range of duodenal mass-forming lesions.

Juvenile polyposis syndrome: An unusual case report of anemia and gastrointestinal bleeding in young infant.

BACKGROUND: Juvenile polyposis syndrome, a rare disorder in children, is characterized with multiple hamartomatous polyps in alimentary tract. A variety of manifestations include bleeding, intussusception, or polyp prolapse. In this study, we present an 8-month-old male infant of juvenile polyposis syndrome initially presenting with chronic anemia. To the best of our knowledge, this is the youngest case reported in the literature. METHODS: We report a rare case of an 8-month-old male infant who presented with chronic anemia and gastrointestinal bleeding initially. Panendoscopy and abdominal computed tomography showed multiple polyposis throughout the entire alimentary tract leading to intussusception. Technetium-99m-labeled red blood cell (RBC) bleeding scan revealed the possibility of gastrointestinal tract bleeding in the jejunum. Histopathological examination on biopsy samples showed Peutz-Jeghers syndrome was excluded, whereas the diagnosis of juvenile polyposis syndrome was established. RESULTS: Enteroscopic polypectomy is the mainstay of the treatment. However, polyps recurred and occupied the majority of the gastrointestinal tract in 6 months. Supportive management was given. The patient expired for severe sepsis at the age of 18 months. CONCLUSION: Juvenile polyposis syndrome is an inherited disease, so it is not possible to prevent it. Concerning of its poor outcome and high mortality rate, it is important that we should increase awareness and education of the parents at its earliest stages.