Mucosal prolapse syndrome mimicking Peutz-Jeghers syndrome in a pediatric patient.

Mucosal prolapse syndrome (MPS) is a rare group of benign conditions characterized by a set of unifying histologic findings thought to be the result of repeated mucosal shearing and submucosal vascular congestion caused by straining. This set of conditions is often misdiagnosed as other polyposis syndromes, inflammatory bowel disease, or malignancy due to its clinical presentation, appearance, and rarity. We report a case of a 15-year-old male who presented with painless rectal bleeding. He was found to have four rectal polyps thought to be due to Peutz-Jeghers syndrome. A repeat colonoscopy with biopsies a year later revealed a diagnosis of MPS. Our case highlights the morphologic similarity between hamartomatous polyp and mucosal prolapse histology. Since MPS is a rare diagnosis even among the adult population, it has not been well described in pediatrics. This syndrome should be on the differential diagnosis for pediatric rectal polyps to prevent unnecessary invasive testing and a delay in treatment.

Inherited CHEK2 p.H371Y mutation in solitary rectal ulcer syndrome among familial patients: A case report.

BACKGROUND: Solitary rectal ulcer syndrome (SRUS) is a rare rectal disease with unknown etiology. Data on the genetic background in SRUS is lacking. CASE SUMMARY: Here, we report the first case of SRUS in a mother-son relationship. Gene sequencing was conducted on the whole family, which revealed an inherited CHEK2 p.H371Y mutation. The experiment preliminarily revealed that the CHEK2 mutation did not affect the expression of CHEK2 protein, but affected the function of CHEK2, resulting in the expression level changes of downstream genes such as CDC25A. CONCLUSION: SRUS is a genetic susceptibility disease where CHEK2 p.H371Y mutation may play a crucial role in the development and prognosis of SRUS.

Solitary Rectal Ulcer Syndrome in Patients Presenting With Lower Gastrointestinal Bleeding: A Tertiary-Care Hospital Experience.

BACKGROUND: Solitary rectal ulcer syndrome (SRUS) is a benign rectal condition associated with defecation disorder that has multifactor pathologies and variable findings on presentation, endoscopy, and histopathology. A diagnostic dilemma with an overlap of differentials and step-wise management that starts with conservative therapies and goes up to repeated surgeries in case of failure of the conservative approach. OBJECTIVE: This study aims to observe clinical, endoscopic, and histological features of SRUS in patients presenting with lower gastrointestinal bleeding. MATERIAL AND METHODS: The study was conducted at the Department of Gastroenterology, Medical Teaching Institute, Lady Reading Hospital Peshawar from October 2018 to April 2020. After written informed consent, 257 patients (149 males and 108 females) from ages 15 to 70 who presented with lower GI bleeding were included via non-probability convenient sampling. Sociodemographic details were recorded in a pre-designed proforma. A colonoscopy was performed with the Colonoscope CF200 Z, Olympus Tokyo, Japan, and findings were noted. Suspected lesions were magnified, dyed with 0.2% indigo carmine, biopsied from the middle and edges of the ulcer, and sent for histopathology. All data were recorded and analyzed in SPSS-20. The mean with SD was calculated for quantitative variables, and frequency and percentages were calculated for qualitative variables. The chi-square test was used to check the significance, and a p-value of <0.05 was considered statistically significant. RESULTS: SRUS was found in 17 (6.6%) patients with lower GI bleeding, with a male predominance of 57% (n=11). Perirectal bleeding, constipation, mucous discharge, abdominal pain, and anemia were common clinical findings. Solitary lesions, ulceration, and anterior rectum location were the most common endoscopy findings. Obliterated lamina propria with collagen, ulceration, crypt distortion, and inflammatory infiltrates were common histopathological findings. CONCLUSION: SRUS is a benign defecation disorder commonly presenting with lower GI bleeding, constipation, straining, and abdominal pain. It needs a stepwise approach with conservative management, medical management, biofeedback, and surgeries as a last resort.

Endoscopic Submucosal Dissection Improves Bloody Stool Associated with Polypoid Type Mucosal Prolapse Syndrome: A Case Series.

Mucosal prolapse syndrome (MPS) is a benign inflammatory disease of the rectum that causes bloody stool. Endoscopic treatment for MPS has not been established. We herein report a consecutive case series of endoscopic submucosal dissection (ESD) for MPS. There were four cases treated with ESD alone. All lesions were on the dentate line, and all were polypoid. The median procedure time was 77 minutes. No complications were observed. The median observation period was 1,108 days, and bloody stool and endoscopic recurrence of MPS were not observed.ESD for polypoid-type MPS was an effective treatment for improving bloody stool and suppressing endoscopic recurrence.

Solitary rectal ulcer syndrome in a young adult - A surgeon's dilemma with rectal carcinoma.

The presentation of solitary rectal ulcer syndrome is very similar to a wide variety of conditions including inflammatory bowel diseases, ischemic colitis and rectal carcinoma. Histopathological examination comes as an important tool for its diagnosis. Hence, high index of suspicion is required for early diagnosis of this rare condition.

Solitary Rectal Ulcer Syndrome Is Not Always Ulcerated: A Case Report.

Solitary rectal ulcer syndrome (SRUS) is a benign and chronic disorder well known in young adults that is characterized by a series of symptoms such as rectal bleeding, copious mucus discharge, prolonged excessive straining, perineal and abdominal pain, a feeling of incomplete defecation, constipation and, rarely, rectal prolapse. The etiology of this syndrome remains obscure, and the diagnosis is easily confused with that of other diseases, contributing to difficulties in treatment. We present a case of a 37-year-old male with a nonulcerated rectal lesion grossly resembling a superficial depressed rectal cancer misdiagnosed in another hospital and describe its appearance on endoscopy and in the analysis of its pathological manifestations. The aim of this case report is to report an easily misdiagnosed case of SRUS, which needs to be distinguished from superficial rectal cancer, which should be educational for endoscopists.

The Impact of Argon Plasma Coagulation in the Treatment of a Solitary Rectal Ulcer Syndrome Revealed by Massive Hemorrhage.

Solitary rectal ulcer syndrome (SRUS) is a rare and chronic rectal condition that can result in a pelvic static disorder. Massive rectal bleeding is a rare manifestation of SRUS. The diagnosis is based on a combination of clinical, endoscopic, and histological findings. The management of bleeding ulcers is usually insufficient with the conventional treatment. Argon plasma coagulation (APC) has been reported to control bleeding. However, its role in healing and improving defecation symptoms is not unanimous in studies. Our case report features a 35-year-old male with terminal constipation and chronic rectal pain, taking laxatives and analgesics, who presented abundant rectal bleeding with hemodynamic instability. The colonoscopy showed two large bleeding rectal ulcers. The histological study of the biopsies was in favor of a solitary rectal ulcer. We have performed multiple sessions of APC. The bleeding was stopped after the first session and there was progressive healing and improvement of the rectal symptoms after other sessions. At 18 months follow-up, the patient is asymptomatic, and no longer uses analgesics and laxatives. Argon plasma coagulation is an effective treatment to control rectal ulcer bleedings. It also improves the healing process and clinical symptoms. However, further controlled studies are needed to support this hypothesis.

Solitary Rectal Ulcer Syndrome Mimicking Perianal Crohn's Disease.

Solitary rectal ulcer syndrome (SRUS) is an uncommon condition that presents with non-specific symptoms shared by other disease processes. This case report shares a unique presentation in which a patient was thought to have fistulous perianal Crohn's disease then underwent treatment with infliximab but was ultimately found to have SRUS. The prognosis and treatment of SRUS vary greatly from inflammatory bowel disease. Making the correct diagnosis is imperative when considering Crohn's disease and its mimickers.

Inflammatory Cloacogenic Polyp: A Rare Benign Colorectal Polyp.

Inflammatory cloacogenic polyps are a rare kind of benign polyp that is located in the anal transitional zone and rectum. We report the case of a 53-year-old male who underwent a diagnostic colonoscopy for a positive fecal immunochemical test. Two 7 mm polyps were found in the rectum with a pathological diagnosis of inflammatory cloacogenic polyp. The polyp was endoscopically resected. These polyps are associated with chronic inflammatory conditions such as Crohn's disease and colorectal tumors. Because of malignant transformation potential, inflammatory cloacogenic polyps are endoscopically removed.

The Efficacy of Biofeedback Therapy in Patients with Solitary Rectal Ulcer and Dyssynergic Defecation.

BACKGROUND: The treatment of solitary rectal ulcer (SRU) is challenging and controversial; generally, no response to conventional treatments can be obtained, particularly in patients with dyssynergic defecation (DD). We assessed the efficiency of biofeedback therapy (BFT) in patients who did not respond to conservative treatments and had coexistence of SRU and DD. METHODS: BFT responses, as well as anorectal manometry and rectoscopy results of 20 patients with the coexistence of SRU and DD, were assessed. RESULTS: Mean age was 32.5 years. Of the patients, 12 were female, and 8 of them were male. An average of 12 sessions of BFT was performed on the patients. Ulcer disappeared in 11 patients (55%) after BFT, and the ulcer size decreased in 3 patients (15%). However, ulcers healed in 9 (90%) of 10 patients whose DD pattern disappeared following BFT, and ulcers healed in only 20% of patients whose DD pattern continued (p = 0.005). The change in anal resting pressure after BFT was significant (p = 0.016). Ulcers were healed in 87.5% (7/8) of the patients whose anal resting pressure decreased after BFT and whose DD disappeared, while ulcers remained untreated in 85.7% of the patients whose anal resting pressure decreased, but the DD pattern continued (p = 0.005). CONCLUSIONS: SRU patients with DD are typically unresponsive to medical treatments. Ameliorating anorectal dyssynergia should be the priority of treatment in these patients. BFT is an effective treatment for DD. BFT enhances the healing of ulcers in patients with SRU by restoring coordination of the pelvic floor.

Long-term results of sacral neuromodulation for the treatment of anorectal diseases.

INTRODUCTION: Sacral neuromodulation (SNM) aims to improve anorectal function in patients with disorders of anal continence and rectal emptying. The mechanism of action of SNM is not well known, and its indications are still under evaluation. We report the functional results and morbidity of a prospective cohort treated between 2002 and 2019. RESULTS: A total of 284 patients (of 423 tested) had implantation of a SNM. Five patients (1.8%) were lost to follow-up. Among those who had implantation, the indications for SNM were anal incontinence (n=376), refractory constipation (n=17), anterior resection syndrome (n=13), solitary rectal ulcer syndrome (n=7), and chronic inflammatory bowel disease (IBD) (n=10). The morbidity rate was 2.7% (Dindo-Clavien>2), 33 patients (11%) required explantation for infection (n=5), pain (n=2), inefficacy (n=24) or other reasons (rectal cancer) (n=3). It was necessary to change the stimulator in 68 patients (24%) during the follow-up period. Regarding the group of patients with anal incontinence, functional results showed improvement of the incontinence score in 40% and of quality of life in 25% after a mean follow-up of 55months. CONCLUSION: SNM constitutes a mini-invasive treatment associated with low morbidity. Its' efficacy in anal incontinence makes it a priority approach. Other indications are still under evaluation; while results are promising, they are highly variable.

Solitary rectal ulcer syndrome in children and adolescents: a descriptive clinicopathologic study.

Solitary rectal ulcer syndrome (SRUS) is an uncommon disorder of the rectum. While benign, it can cause concern for patients and affect quality of life. Reported studies on SRUS worldwide are scarce. The aim of this study is to describe the clinicopathologic characteristics of SRUS in a cohort of children based in Saudi Arabia. In this study, children with a confirmed diagnosis of SRUS at King Abdulaziz University Hospital (KAUH) were included, during the period November 2003 to November 2017. Data were collected from hospital medical records. The study comprised twenty-one patients: 17 males (81%) and 4 females (19%); the median age was 11.4 years (range, 5.43-17.9 years). The most common presenting symptoms were rectal bleeding in 21 patients (100%), passage of mucus in 16 (76.1%), abdominal pain in 14 (66.6%), constipation in 13 (61.9%), straining in 9 (42.9%), and rectal prolapse in 5 (23.8%). The most common finding at initial colonoscopy was a single ulcer in 7 patients (33.3%), multiple ulcers in 6 (28.5%), polypoid lesions in 5 (23.8%), and hyperemic mucosa in 3 (14.2%). All patients received medical treatment and 14 (81%) continued to manifest one or more of the symptoms following treatment, which required subsequent modification of the treatment course. None of the patients required surgery. In conclusion, the study found rectal bleeding to be the most common presentation, with a single ulcer being the most prevalent lesion in endoscopy. Treatment response was variable, but almost half of patients reported relief of symptoms following treatment.

Double Early Rectal Cancer Arising from Multiple Inflammatory Cloacogenic Polyps Resected by Endoscopic Submucosal Dissection.

A 45-year-old man visited our institution due to the onset of hematochezia. He had a previous episode nine years earlier and colonoscopy at that time revealed multiple polyps, which were consistent with inflammatory cloacogenic polyps (ICPs) on the dentate line. Colonoscopy was performed again and two of the ICPs had grown. Both lesions were pathologically diagnosed as adenocarcinomas based on biopsies. Endoscopic submucosal dissection (ESD) was performed and the two lesions were diagnosed as double well-differentiated adenocarcinomas arising from ICPs. To our knowledge, this is the first reported case of double early rectal cancer in ICPs, which were followed endoscopically and successfully resected with ESD.

Solitary rectal ulcer syndrome in 102 patients: Do different phenotypes make sense?

BACKGROUND: Little is known about the pathophysiological mechanisms of solitary rectal ulcer syndrome (SRUS). AIMS: We aim to identify the different phenotypes, taking into account complaints, anatomy and anorectal physiology. METHODS: Complaints, endoscopy results, and physiology data of patients with histologically proven SRUS were collected and analysed. The associated anorectal diseases were faecal incontinence and obstructed defecation. The clinical aspects of SRUS were compared, and factors associated with anorectal diseases were identified. RESULTS: Overall, 102 consecutive patients were included. The predominant lesion was a rectal ulcer (66%), and inflammation of the rectal wall was present in 42% of patients. Abnormal rectal capacities and/or rectal perception was observed in more than half. Nearly half (52%) of the patients met the criteria for obstructed defecation and they tended to more frequently have psychiatric disease (66.7% vs 33.3%; p=0.07). Patients with faecal incontinence (17%) reported more self-perception of anal procidentia (p=0.01) and were more likely to have inflammation of the rectal wall (p=0.02), high-grade internal rectal procidentia (p=0.06) and anal hypotonia (p=0.004); their maximum tolerable volume was lower (p=0.004). CONCLUSION: The characteristics of patients with SRUS suggest different phenotypes. This may be a way to develop a comprehensive treatment strategy.

The Long-term Efficacy of Endoscopic Submucosal Dissection in the Treatment of Symptomatic Mucosal Prolapse Syndrome.

Mucosal prolapse syndrome (MPS) is a benign inflammatory disease of the rectum that causes symptoms such as blood-stained stools and anemia. However, there is no treatment with a proven long-term efficacy for MPS. A 53-year-old man presented with blood-stained stools and anemia due to MPS and was treated conservatively for 1 year. However, his symptoms did not improve. We performed endoscopic submucosal dissection (ESD) for MPS. He has had no symptoms for six years after ESD, and the recurrence of MPS was not seen on endoscopy. This case shows that ESD can be effective for the long-term treatment of symptomatic MPS.

A Clinical Entity Often Missed-Solitary Rectal Ulcer Syndrome in Children.

Background: Solitary Rectal Ulcer Syndrome (SRUS) was a relatively uncommon and easily misdiagnosed clinical entity in children. The diagnosis of this condition was often delayed due to lack of clinical suspicion. Only case series were available and no definitive treatment was postulated. Here, we share our experience of SRUS in our institute and reviewed the literature published so far. Aim: To study the clinical profile and treatment response of Solitary Rectal ulcer Syndrome in Children (SRUS). Materials: The clinical profile and 1 year follow up response of the diagnosed cases of SRUS over a period of 5 years was retrospectively collected from medical record department. Results: The median age of presentation among 24 children was 8 years with majority (75%) above 5 years. All children presented with intermittent rectal bleeding with median duration of 5.5 months. The other presenting symptoms documented were hard stool (79%), mucorrhea (70%), and abdominal pain (58%). One child presented with rectal prolapse. On colonoscopy, 46% had single ulcer while another 46% had multiple ulcers and 8% had polypoidal lesion. All lesions were within distal rectum and had characteristic histological pattern. All children were treated with conventional treatment like dietary fibers and laxatives along with toilet training. About 75% children attained remission and 25% had relapse but responded with corticosteroid enema. None required surgery. Conclusion: Conventional treatments itself induce and maintain remission in most of SRUS patients if treatment is instituted at the earliest. Thus, early suspicion and diagnosis is needed to achieve remission.

Management of solitary rectal ulcer syndome: Results of a french national survey: Société Nationale Française de Coloproctologie SNFCP, France.

There is no consensus on the treatment for solitary rectal ulcer syndrome (SRUS). This study aimed to obtain information from physicians treating patients with SRUS in a French medical surgical society to facilitate management plans and to develop a support algorithm. Members of the French National Society of Coloproctology (SNFCP) were invited to complete a survey that included twenty items about therapeutic management and healing criteria. Overall, 91 practitioners (median age: 52 [42-59] years) responded to the questionnaire; 64/91 (70.3%) were proctologists, and 27/91 (29.7%) were colorectal surgeons. Only 15 members (16.5%) followed more than 5 patients with SRUS per year. The therapeutic objectives were to improve both patient symptoms (100%) and quality of life (98.9%). Laxative treatment and first-line rehabilitation were agreed upon by 83.5% and 73% of the respondents, respectively. Surgery, mainly rectopexy, was offered after failed medical treatment by 81.1% of the practitioners (79.1%). The first-line strategy preferred by the professionals included laxatives and biofeedback rehabilitation. Surgical treatment, preferably rectopexy, was proposed as a second intervention. No consensus was reached regarding other therapeutic alternatives, and additional studies are required to clarify their indications.

Integrated MR Analytical Approach and Reporting of Pelvic Floor Dysfunction: Current Implications and New Horizons.

Reporting MR imaging of pelvic floor dysfunction can be made easy if radiologists understand the aim of each MR sequence and what to report in each set of MR images. For an MR imaging report that is critical in decision making for patient management, it is of paramount importance to the radiologist to know what to look for and where to look for it. This article presents a new term, integrated MR analytical approach. A reporting template is included in which all MR findings are presented in a schematic form that can be easily interpreted by clinicians from different subspecialties.

Solitary Rectal Ulcer Syndrome: A Narrative Review.

Solitary rectal ulcer syndrome is a multifactorial pathology, which entails a variety of clinical, histologic and endoscopic aspects that needs step-wise logical approach for management especially in relapsing refractory cases. Apart from the diagnostic dilemma that may be faced due to similarities of presentation with inflammatory bowel diseases or colorectal neoplastic lesions, the syndrome also overlaps with dyssynergic defecation syndrome, health anxiety disorder, obsessive compulsive disorder, and latent mucosal rectal prolapse, a systematic composite treatment modality including psychological, pharmacological, physiological and possibly surgical interventions are sometimes essential. Selecting appropriate treatment in this condition not only affects clinical outcome but also patients' experience and further stigma of SRUS life-long. In this review, we will discuss the detailed pathophysiology, diagnostic and therapeutic approaches in dealing with solitary rectal ulcer syndrome.

Modified Tong Xie Yao Fang relieves solitary rectal ulcer syndrome: A case report.

BACKGROUND: Solitary rectal ulcer syndrome (SRUS) is a rare rectal disorder characterized by bloody mucus in the stool, difficulty in defecation, pain, and anal swelling. To date, the etiology of this syndrome remains not well understood and the diagnosis is frequently confused with other disorders, making treatment a clinical challenge. CASE SUMMARY: A 50-year-old woman presented to our hospital with a 40-d history of bloody mucus in the stool and anal swelling. SRUS was suspected. Rectoscopy revealed a large, severe ulcerous lesion. Histologically, the lesion was characterized as chronic ulcer without clear tumor cells, and the final diagnosis of SRUS was made. The patient was treated with Chinese medicine therapy, with administration of Tong Xie Yao Fang. After 3 wk of treatment, the symptoms improved significantly. At 2-mo follow-up, rectoscopy in a local hospital showed healed ulcer scars without obvious protrusion 3 cm from the anal verge. CONCLUSION: Chinese medicine therapy represents a potential treatment of SRUS with predominant rectal bleeding, mucinous discharge, and anal swelling pain.