Colitis cystica profunda: literature review and case report

Introduction: Colitis Cystica Profunda (CCP) is a rare benign disease of the colon and rectum of uncertain etiology. Its recognition is important since it often mimics malignant processes. We review a case of CCP in a 50-year-old patient, with emphasis on endoscopic ultrasound findings and present review of the current literature. Case description: 50-year-old male with no past medical history was referred to our institution for further evaluation of a large multilobulated mass in the left proximal colon found on screening colonoscopy. We performed colonoscopy with endoscopic ultrasound and fine needle aspiration and snare polypectomy. Colonoscopy up to the transverse colon revealed a large multilobulated submucosal mass with normal overlying mucosa that extends from 50 cm to 70 cm from the anal verge (fig.1). The endosonographic examination revealed anechoic, round, well demarcated lesions with a hyperechoic rim and hypoechoic foci within (fig.2). They were located within the deep mucosa and submucosal layer. The muscularis propria was intact. The largest submucosal lesion measured 18.6 mm x11.4 mm. Small amount of fluid was aspirated by FNA from two lesions. Snare polypectomy of one of the lesions was then performed. The polypectomy site was closed with two endoclips. Histological examination showed multinucleate giant cells in a background of benign colonic elements and mucin consistent with a diagnosis of CCP. Discussion: CCP is an uncommon benign entity that mimics malignancy on endoscopic views but histologically characterized by mucin-filled cysts beneath the muscularis mucosa. It can present in a localized form with a polypoid lesion or more diffusely along the gastrointestinal tract. Endoscopically, CCP are polypoid lesions covered by normal, edematous or ulcerated mucosa. There are few case reports of the endosonographic features of CCP. They were described as hypoechoic or anechoic lesions involving the mucosa or submucosa, with areas of echorefringent fibrosis between lesions by Hulsmans, F.J., et al. In another case report by Sultan et al. the EUS findings of CCP were described as hypoechoic lesion with cystic/spongy features involving the mucosa and submucosa. Our case depicted similar features of well demarcated mucosal and submucosal anechoic lesions with hypoechoic foci surrounded by hyperechoic rim. Colonic EUS can be a useful tool to assist in establishing the diagnosis of CCP.Figure: Colonoscopy showing large multilobulated submucosal mass with overlying normal looking mucosa.Figure: Endosonographic imaging showing anechoic, round, well demarcated lesions.

Solitary rectal ulcer syndrome (colitis cystica profunda) in spinal cord injury patients: 3 case reports

Colitis cystica profunda is a rare and infrequent benign lesion of the colon and rectum-sigmoid colon. Histologically, it is characterized by glandular cystic dilatation with mucin production and extension through the colonic wall, penetrating the muscularis mucosae, submucosa, and even the muscularis propria. We report a case of colitis cystica profunda that occurred in a radiation-induced colonic stenosis. A 66-year-old woman with a history of stage IA2 squamous cell carcinoma of the cervix, treated with conization in addition to simultaneous chemotherapy and radiotherapy. External beam radiation with cobalt60 was administered at specific doses. 27 years later, she presented diarrheal stools approximately 7 times with abdominal distension. On physical examination, a tumor was found in the sigmoid colon; she was referred to a third-level hospital; a colostomy in the left transverse loop and sigmoidectomy were performed. In the pathological analysis, a Rectosigmoidectomy product was received and a zone of stenosis with shiny mucosa and thickening of the wall was found. Microscopically, submucosal cysts filled with mucin of variable size were found, covered by a layer of epithelium without atypia that infiltrated the colonic wall. Colitis cystica profunda is a benign non-neoplastic disease. Knowledge of this pathological entity associated with a history of radiation is important since there are few cases reported in the literature.

BackgroundColitis cystica profunda is a rare nonneoplastic disease defined by the presence of intramural cysts that contain mucus, usually situated in the rectosigmoid area, which can mimic various malignant lesions and polyps. Its etiology still remains not fully elucidated, and several mechanisms such as congenital, post-traumatic, and infectious have been implicated in the development of this rare entity.Case presentationHerein, we describe a unique case of colitis cystica profunda in the setting of Peutz-Jeghers-type polyp of the sigmoid colon, associated with high-grade dysplasia of the overlying epithelium in a 48-year-old female patient, who presented to the emergency room with signs of intestinal obstruction. To the best of our insight, this is the first manifestation ever reported in the literature regarding the coexistence of solitary Peutz-Jeghers-type polyp, colitis cystica profunda, and high-grade dysplasia of the epithelium of the colon.ConclusionsThe purpose of this case report is to highlight colitis cystica profunda and its clinical significance. An uncommon nonneoplastic entity, many times masquerading as malignant lesion of the rectosigmoid area of the colon. Clinicians and pathologists should be aware of this benign condition that is found incidentally postoperatively in patients undergoing colectomies, leading to unnecessary increase of morbidity and mortality in these patients, who otherwise could have been cured with conservative treatment only.

Colitis cystica profunda is a rare pathology with approximately 200 cases reported in the literature. This entity is characterized by a slow, asymptomatic evolution and when finally recognized, confusion with a malignant tumor with subsequent application of unnecessary therapies or surgical resections is frequent. We present the case of a 41-year-old male with 7-day evolution ultimately presenting to the emergency room with abdominal pain. At physical examination, he was dehydrated with severe abdominal pain, tachycardia and tachypnea, abdominal distention, without bowel sounds, wood with clearly acute abdomen signs, and anuria for 48 h. The patient required mechanical ventilation secondary to abdominal restriction with severe metabolic acidosis. The situation of hemoglobin (14.5 mg/dL), hematocrit (38), leukocytes (18,500/mm [3] with 89% neutrophils), platelets (257,000), creatinine (2.1 mg/dL), glucose (230 mg/dL), and normal clotting times were included in the laboratory reports. The diagnosis was intestinal obstruction, abdominal compartment syndrome, and septic and hypovolemic shock. At exploratory laparotomy, we found a sigmoidal tumor totally occluding the lumen with severe dilatation of the proximal colon and haustral tearing with ischemia. Totally, 2 m of ileum showed necrotic patches secondary to compartment syndrome and compression to the abdominal wall. A total colectomy and resection of 2 m of ileum with ileostomy and Hartmann's procedure were completed. The pathology examination reported colitis cystica profunda without atypia. After 3 weeks and stoma remodelation, the patient was discharged. This benign lesion could be treated with less aggressive procedures. With the correct pathological diagnosis, a better treatment with excellent prognosis could have resulted.

Colitis cystica profunda (CCP) is an uncommon benign disease of the colorectum characterized by mucin-filled cystic glands in the submucosal and deeper layers of the intestinal wall. Its clinical, endoscopic, and radiological presentations are difficult to differentiate from colorectal cancer, particularly in patients suffering from inflammatory bowel disease. In this article, we report a 36-year-old man with an 8-year history of ulcerative colitis who was admitted with a history of intermittent rectal bleeding, mucoid discharge, tenesmus, and urgency for the last 6 months. A 4-cm ulcerated sessile mass at the rectosigmoid junction, suggestive of carcinoma, was demonstrated by colonoscopy. Cross-sectional imaging revealed focal rectal wall thickening, and pelvic MRI identified a submucosal lesion with multiple cystic spaces resulting in a characteristic ‘Swiss cheese’ appearance. Initial superficial biopsies were nondiagnostic. The endoscopic ultrasound-guided core biopsy demonstrated colonic glands displaced into the submucosa and muscularis propria, associated with smooth muscle proliferations and fibrosis, without cytologic atypia. Immunohistochemical (IHC) studies established a benign colonic epithelial origin, supporting the diagnosis of CCP. Based on the patient’s symptoms, size of the lesion, and suspicion of malignancy, the patient underwent laparoscopic low anterior resection with primary anastomosis. The final pathology confirmed the diagnosis of CCP with negative margins without dysplasia or malignancy. At 32 months of follow-up, the patient was symptom-free with no evidence of recurrence. This case emphasizes the need to consider CCP as a benign mimicker of colorectal cancer. It demonstrates the benefits of deep tissue sampling and multidisciplinary team review in achieving an accurate diagnosis and optimizing patient management.

The colitis cystica profunda is a very rare benign entity of the lower GI-tract. It was first described by Stark. He found these cysts, filled with mucous, in two autopsies in 1766. The study of the literature showed less than 160 published case reports so far. The most frequent localisation is the middle and lower third of the rectum and the colon sigmoideum, but it also can be found in the entire GI-tract. The colitis cystica profunda is often asymptomatic. The exact histology is very important, because the colitis cystica profunda sometimes imitates a mucinous adenocarcinoma of the colon or rectum. The therapy finally depends on the histopathological result.

Colitis cystica profunda: Presenting with complete intestinal obstruction and recurrence

A 29-year-old woman was admitted to our hospital complaining of abdominal distention for one year, and occasionally experienced mild pain in the left lower abdomen. There was no antecedent or associated colonic disease. Physical examination didn’t reveal any abnormality. All results of her hematological and biochemical tests were normal, including erythrocyte sedimentation rate, C-reactive protein, and carcinoma-embryonic antigen. Her abdominal CT scan revealed uneven thickening of the left anterior-lateral wall of the rectum without the loss of perirectal fatty tissue and multiple cystic masses associated with scattered calcification in the transition zone between the rectum and sigmoid (Figure A & B: oblique reconstructed images). There was no lymphadenopathy in the abdomen. Two colonoscopies showed multiple smooth sub mucosal masses ranging from 1.0cm x1.5cm to 2.0x2.5cm in size (Figure C). An endoscopic ultra-sonogram depicted a cystic mixedechoic lesion without adjacent adenopathies (Figure D). The initial endoscopic biopsies were inconclusive. Endoscopy macrobiopsys were performed, and a mucoid and gelatinous material came out of it (Figure E & F). Macro biopsy specimen showed cystic lesion filled with muslin in the muscular is mucosa, and cystic wall was coated with columnar epithelium and inflammatory infiltrate (Figure G). The final diagnosis is colitis cystica profunda (CCP). The patient was recommended to high-fiber diet and regular lifestyle, and she remained well at the 1-year follow-up of endoscopy.

目的：分析深在性囊性结肠炎的临床表现与诊疗结果，以提高其诊疗水平。方法：综合分析国内近20年文献报道及作者病例(共17例)。结果：平均发病年龄34.0岁、男女比例为7:10，发病部位分别为回盲部6例、直肠4例、升结肠3例、结肠弥漫性病变2例、降结肠及乙状结肠各1例。临床表现以腹痛伴血便8例(最多)，其次腹痛伴腹泻、腹部包块及间断血便各2例，肠梗阻、肠套叠及转移性右下腹部疼痛各1例。体检发现腹部包块8例、直肠指诊发现直肠肿物4例、贫血2例、腹膜炎体征1例及体征阴性2例。本组17例腹部超声提示腹腔肿块8例、局限性肠壁增厚2例及未见异常7例。CT扫描发现腹腔肿块8例、局限性肠壁增厚5例及未发现异常4例。15例内镜检查中14例发现病灶和1例黏膜组织活检确诊。8例钡剂灌肠检查发现肠腔局限性狭窄2例、肠壁肿瘤性病变5例及弥漫性病变1例。所有病例均实施手术治疗，术后恢复良好、痊愈出院，随访期间无疾病复发。结论：诊断明确病例首选内科保守治疗，而手术治疗适应于与恶性疾病鉴别困难病例。 Objective: The clinical manifestation and treatment results of colitis cystica profunda were analyzed to improve the level of diagnosis and treatment. Methods: The nearly twenty-year Chinese literature report of colitis cystica profunda and our report were comprehensively analyzed. Results: The average age was 34.0 years, with the male to female ratio of 7:10; the lesion location was iliocecum in 6 cases, rectum in 4, ascending colon in 3, diffuse colon disease in 2, descending colon and sigmoid colon in each of the 1 case. The clinical manifestation was leaded by abdominal pain with bloody stool in 8 cases, followed by abdominal pain with diarrhea and abdominal mass with intermittent bloody stool in each of the 2 cases, intestinal obstruction in one, intussusceptions in one and shifting right abdominal pain in one. Physical examination revealed abdominal mass in 8 cases, rectal mass found by digital exam in 4 cases, anemia in 2 cases, peritonitis sigh in one and negative finding in 2 cases. All 17 cases underwent abdominal ultrasound; abdominal mass was detected in 8 cases, localized thickening of colorectal wall in 2 cases, and no abnormal finding in 7 cases. CT scanning revealed abdominal mass in 8 cases, localized thickening of colorectal wall in 5 cases, and no abnormal finding in 4 cases. Colorectal lesions were observed in fourteen of 15 cases with endoscopy, and colitis cystica profunda was determined by endoscopy with biopsy in one case. Barium examination was in 8 cases, localized thickening of colorectal wall in 2 cases, tumor-like lesion in 5 cases and diffuse disease in one. All cases underwent surgery, with smooth recovery and discharge, and there was no recurrence of disease during the follow-up. Conclusions: The medical conservative treatment was the choice of therapy, and the surgery is indicated in colitis cystica profunda cases when it is difficult to distinguish with malignant disease.

Physicians should have a high index of suspicion to rule out colitis cystica profunda (CCP) when approaching a patient with rectorrhagia following laparoscopic appendectomy.It is pivotal to make a prompt diagnosis for CCP in the context of rectorrhagia and initiate timely management.It is important to differentiate CCP from other aetiologies of lower gastrointestinal tract bleed as it is coined 'the great imitator'.

Colitis cystica profunda (CCP) is an uncommon, benign colorectal lesion that can mimic malignancy. We conducted a systematic review of histologically confirmed CCP case reports and series to define epidemiology, presentation, diagnostic yield, management, and outcomes. Following PRISMA 2020, Embase, PubMed/MEDLINE, Web of Science, and CINAHL were searched (1965-2025); two reviewers independently screened studies and extracted demographic, clinical, imaging, histologic, treatment, and outcome data. Sixty-five studies (92 patients) met criteria. Mean age was 40 ± 12 years (median 39), and 54% were male. Rectal bleeding (70%), mucus discharge (32%), diarrhea (24%), and abdominal/rectal pain (26%) were most common; 12% were asymptomatic. Lesions were predominantly distal (rectum 61%), and superficial biopsies reached the submucosa in only 32%, contributing to frequent sampling error; Endoscopic ultrasound (EUS) and cross-sectional imaging typically showed submucosal cystic lesions with intact muscularis propria. Conservative and medical therapy were each attempted in 16% of patients, endoscopic resection in 14%, and surgery in 67%, most commonly local transanal/perineal excision (40% of surgeries) or segmental/partial colectomy (32% of surgeries). Dysplasia was reported in 10% and coexisting invasive adenocarcinoma in 4% at diagnosis; no subsequent malignant transformation was reported over a median follow-up of 8.4 months. Post-operative morbidity occurred in 5% and recurrence in 4%. CCP is a rare but important mimic of colorectal cancer; diagnosis is optimized with deep tissue sampling and high-resolution imaging. When feasible, organ-preserving endoscopic or local excision can achieve durable symptom resolution with low morbidity while avoiding unnecessary radical surgery.

A 72-year-old woman with a prior sigmoid resection for colon cancer underwent a right hemicolectomy after a colonoscopy revealed a mass in the hepatic flexure. A preoperative biopsy at colonoscopy showed tubulovillous dysplasia with high-grade neoplasm. The final specimen pathology revealed benign mucosal elements with mucin pools consistent with colitis cystica profunda (CCP). CCP is a benign lesion; no further treatment was necessary after resection. To our knowledge, this is the first reported case of CCP in the right colon, presenting atypically in the hepatic flexure. This case report brings to light the difficulty and importance of making an accurate diagnosis of CCP.

Colitis cystica profunda has been infrequently reported in the literature. Although it is not malignant, on x-ray examination it can easily be confused with a neoplasm (1). Its etiology has been attributed to several conditions, such as chronic irritation and congenital weakness of the musculature, but has not been established and remains a pathological enigma. In previously reported cases, the lesion has usually been in the rectum or sigmoid and relatively small, from 1.0 to 4.0 or 5.0 cm in diameter, and because of its size it has not generally required surgery. In the case reported below, however, the lesion was very bulky and extended from the mid-transverse colon to the lower descending colon. Because it bordered on complete obstruction, radical surgery was required. This afforded an excellent gross study. Case Report D. L. M., a 36-year-old white male, was first admitted in 1964 with complaints of diarrhea and occasional passage of bloody stools. The roentgenograms at that time were essentially normal, but a few minor defects of superficial ulceration were noted (Fig. 1). Stool studies for ova and parasites were negative. A diagnosis was made of ulcerative colitis, for which the patient was treated medically. The symptoms were controlled with steroids and diet until the present illness, which was insidious in the six to eight months before the present admission. Stools were frequent, often containing free blood. There was a gradual loss of weight which, with the diarrhea, made it difficult for the patient to carry on with his rather strenuous job. A roentgenogram from an outpatient barium-enema examination in September 1966 is shown in Figure 2. Because of the x-ray findings a bland diet with low residue was prescribed, together with intestinal antibiotics. Three weeks later the patient was admitted to the hospital, and the barium-enema study was repeated (Figs. 3–4). On Oct. 21, the patient underwent surgery. Prior to operation the hematocrit was 34, the hemoglobin 11.7 g per 100 cc, and the urinalysis normal. The exploratory laparotomy ended as a transverse colectomy and a double colostomy. The operative record read in part: “Satisfactory identification of a tumor could not be made extraluminally. A colotomy performed in the mid portion of the transverse colon disclosed a large number of villous polypoid structures obstructing the bowel by the mere mass of their presence. Several biopsies submitted to the pathologist were reported as showing inflammation with no definite evidence of neoplasm. A segment of transverse colon approximately 20 cm in length was resected…” The pathologist reported that, grossly, an abundant, apparently normal omentum was attached to the colon. Numerous finger-like villi within the colon measured up to 3.5 cm in length and up to approximately 0.5 cm in diameter, averaging between 0.2 and 0.3 cm in diameter. Many were anastomosed, forming a complex network.

Enteritis cystica profunda causing ileoileal intussuseption in a child