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Colitis cystica profunda
Colitis Cystica Profunda
Gerald I. Green, MD, San Antonio, Texas Raul Ramos, MD, San Antonio, Texas George A. Bannayan, Arthur S. McFee,
MD, San Antonio, Texas
MD, PhD, FACS, San Antonio, Texas
Colitis cystica profunda was first described by Stark [I] in 1766. Virchow [2] presented a case in ,l863 and named the condition “colitis cystica polyposa.” For decades, descriptions of this disease were either confined to pathology texts or forgotten entirely. Colitis cystica profunda has been the subject of numerous reports since its first description in the English literature in 1957 [3]. Descriptions by American authors first appeared in 1966 [4-61. Since 1957, twenty articles describing fiftyone patients have been published [4-211. The chief importance of this benign entity lies in its differentiation from colonic mutinous adenocarcinoma. Our case is the first report in which endoscopic views are included. We hope that these pictures, together with a brief review of the literature, will help other physicians more readily recognize this benign condition which often may elude diagnosis and thus may lead to unnecessary radical operations. Case Report A twenty-five year old woman was admitted to the Bexar County Hospital in February 1973 because of the passage of excessive mucus and blood per rectum. The onset of symptoms dated back to age eight when she first noted an occasional mucoid rectal discharge. Short-
From the Departments of Surgery, Medicine, and Pathology, University of Texas Medical School at San Antonio, San Antonio, Texas. Reprint requests should be addressed to Dr McFee, Department of Surgery, University of Texas Medical School at San Antonio, San Antonio, Texas 78284.
Volume 127, June 1974
ly thereafter, small quantities of bright red blood coat-
ing the stool were noted; however, mucus or blood was intermittently passed and was unassociated with stools. In 1964, at age sixteen, she underwent hemorrhoidectomy without improvement in symptoms. In 1968, perianal condylomas were resected. Since then, the mucus discharge and rectal bleeding had increased in frequency to several times per week. In addition, the patient was experiencing tenesmus and mild rectal pain, exacerbated by bowel movements. The patient denied having pruritis, diarrhea, weight loss, nausea, abdominal pain, dysuria, and vaginal discharge. Family history was noncontributory. On admission, the patient was a thin, well nourished woman in no distress. The entire physical examination gave normal results with the exception of t,he rectal examination which revealed a firm, nontender, nonmovable, 2 by 1 cm mass on the anterior rectal wall. Proctoscopic examination revealed a 2 by 1 cm erythematous submucosal lesion extending 4 to 6 cm above the dentate line. There were several superficial ulcerations measuring 1 to 2 mm on the mucosal surface of this lesion. Biopsy of the lesion was interpreted as indicating colitis cystica profunda. Colonoscopy performed to a distance of 50 cm with the Olympus CF-MB colonoscope revealed the same endoscopic findings with no evidence of additional lesions. (Figure 1.) Barium enema examination showed nothing abnormal. Subsequently, with the patient under caudal anesthesia, local excision of the lesion was performed. The pathologist reported glandular mucus-filled cysts deep to the muscularis mucosae, some of which were lined with normal appearing epithelium. (Figures 2 and 3.) The final impression was colitis cystica profunda. The patient has been asymptomatic for three months since discharge.
749
Greenet al
Figure 1. A, c010noscOpic view showing an elevated submucosal mass with an area of superficial ulceration (small arrow) and the previous biopsy site (large arrow). 6, a view from another angle again shows the elevated submucosal nature of the lesion and the superficial ulceration (small arrow) and prior biopsy site (large arrow). White areas at the bottom of the illustration represent mucoid material. Comments
Colitis cystica profunda is a benign condition characterized by the presence of mucus-containing cysts in the submucosa of the colon and rectum. Grossly, there may be localized or diffuse nodular, polypoid, or plaquelike areas in the rectum or The lesion colon measuring 1 to 3 cm in diameter. is most commonly localized on the anterior rectal wall, usually 5 to 12 cm from the anal orifice. Seven cases of a diffuse form have been reported [11,12,22]. The mucosa overlying the cysts may show irregularly distributed areas of edema, hyperemia, hypertrophy, and atrophy with occasional superficial ulceration or central umbilication. On cut section, submucosal mucus-filled cysts are visible.
Microscopically, the cysts are deep to the muscularis mucosae. They either are lined with normal appearing columnar epithelium or may merely be filled with mucus which stains faintly basophilic. The condition should be differentiated from colitis cystica superficialis, in which numerous diffuse minute cysts are found superficial to the muscularis mucosae [3]. Some investigators believe that this entity is almost pathognomonic of pellagra; however, it may be encountered, although infrequently, in patients with sprue [25]. The cause of the condition from both congenital and acquired bases, has been considered [4,6,13,14,22,24,25]. Despite the suggestions of those who believe that colitis cystica profunda is of congenital origin, representing hamartoma formation, chronic inflammation has been accepted by
Figure 2. Rectal biopsy specimen showing the acinar formation penetrating beneath the muscularis mucosae. These glands are lined with benign columnar cells. Several mucous lakes are also seen (arrows). (Hematoxylin and eosin stal; origlnal magnification X 6.)
750
The American Journal of Surgery
Colitis (1bstica Protunda
Figure 3. Higher magnification of Figure 2 showing the dilated cystic appearance of the mucus-containing submucosai glands within a fiand brous stroma. (Hematoxyiin eosin stain; original magnification X 60.)
most investigators as the primary etiologic factor in the pathogenesis. Supporting the theory of inflammation is the work of Brynjolfsson and Haley [24]. These investigators, using rats, exteriorized a segment of small bowel which then developed lesions identical to those seen in colitis cystica profunda. Additional evidence to support inflammation as the basis for this disease is its association with ulcerative colitis and adenomatous polyps [3,9,12,16,22,26]. The observation of Herman and [IS], of demonstrated regression of cystic Nabseth changes in a patient after diverting colostomy was established, is interesting and strongly supports inflammation as the cause of the condition. Table I lists the presenting signs and symptoms in the fifty-two known cases of colitis cystica profunda. The predominant presenting complaints are bright red rectal bleeding and excessive mucus discharge. Often, there are lower abdominal cramps, diarrhea, and tenesmus. A rectal mass is usually present and, occasionally, rectal prolapse occurs. We have recorded the endoscopic appearance of the mass. Roentgenologically, the colon may appear normal or there may be single or multiple radiolucent filling defects. Colitis cystica profunda should be included in the differential diagnosis of any rectal or colonic polypoid or intramural mass. Although adenomatous polyps represent the entity with which it is most frequently confused, other causes for such a
Volume
127,
June
1974
lesion are endomerriosis, multiple f>olyposis, lipoma, leiomyoma, sarcoma, polypoid inflammatory granulomas such as those that. nay occur with schistosomiasis, ulcerative colitis, and Crohn’s disease, ischemic proctitis or colit,is with submucosal hemorrhage and edema, and, most importantly. a mucus-producing adenocarcinoma. IIifferentiation among these entities should be possihle with an adequat.e biopsy. Confusion arises when the pathologist misinterprets the hist oiogic specimen and suggests the possibility of carcinoma. A I)atient with colitis cystica profunda was presented
TABLE
I
Physical Findings, Symptoms, and Signs in Fifty-Two Patients with Colitis Cystica Profunda Number of Cases
___~
Physical findings Rectal mass or polyp Stenosis Ulcerative colitis Abnormal barium enema Rectal prolapse Symptoms and signs Rectal bleeding Diarrhea Mucus stools Pain Tenesmus Weight loss Previous rectal surgery ~~
40 4 18
33 16 117 9
4 12
751
Green et al
by Castleman [27] at a cancer seminar in 1963; approximately half the pathologists present diagnosed mutinous adenocarcinoma. Therapy should consist of local transanal excision or local resection for higher lesions. Incision of the cysts or partial excision has corrected symptoms in some patients [6,7,21]. Management by diverting colostomy has also been effective [16]. Seven of the fifty-one reported patients have undergone needless abdominoperineal resection. Colitis cystica profunda may not be as rare as previously thought. Rather, the paucity of cases may result from the lack of recognition of the lesion. This presentation of the endoscopic appearance of the lesion along with a review of all previously reported cases may help to increase awareness of this benign entity and to avoid unnecessary radical operations for relief of symptoms. References 1. Stark W: Specimen septem histories et dissectiones dysentericorum exhibens Thesis, Leiden, 1766. 2. Virchow R: Die Krankhaften geschwiilste, vol 1. Berlin, Hirschwald, 1863. p 243. 3. Goodall HB, Sinclair 1%: Colitis cystica profunda. J Patho/ 73: 33, 1957. 4. Allen MS: Hamartomatous inverted polyps of the rectum. Cancer 19: 257, 1966. 5. Castleman B: Clinical pathologic conference. N Engl J Med 275: 608. 1966. 6. Epstein SE, Ascari WO, Ablow RC. et al: Colitis cystica profunda. Am J Clin Pathol45: 186, 1966. 7. Ballas M, Nunel L, Miller EM: Localized colitis cystica profunda. Arch Surg 103: 406, 1971.
752
8. Barner JL: Colitis cystica profunda. Radiology89: 435, 1967. 9. Burt CAV, Handler BJ, Haddad JR: Colitis cystica profunda concurrent with and differentiated from mutinous adenocarcinoma. Dis Co/on Rectum 13: 460, 1970. 10. Capehart RJ, Graves JW: Colitis cystica profunda. J Kans MedSoc72: 385, 1971. 11. Carstens PHB, Gonzalez R: Colitis cystica profunda. Acta Pathol Microbial Stand 75: 273, 1969. 12. Castleman B: Clinical pathologic conference. N Engl J Med 286: 147, 1972. 13. Fechner RE: Polyp of the colon possessing features of colitis cystica profunda. Dis Colon Rectum 10: 359. 1967. 14. Ghani A: Colitis cystica profunda. Br J Surg 57: 596, 1970. 15. Grant KB, Roller GJ: Colitis cystica profunda. Radiology 89: 110, 1967. 16. Herman AH, Nabseth DC: Colitis cystica profunda: localized, segmental, and diffuse. Arch Surg 106: 337, 1973. 17. Howard RJ, Mannax SJ, Eusebio EB, et al: Colitis cystica profunda. Surgery69: 306, 1971. 18. Muldoon JP, Bowman HE, Asman HB: Colitis cystica profunda. Dis Colon Rectum 11: 220, 1968. 19. O’Brien SE, Shier KJ, Tuttle RJ: Colitis cystica profunda: a rare lesion of the ToIon. Can J Surg 14: 53, 197 1. 20. Scruggs FL, Duckworth JK: Colitis cystica profunda. South Med J61: 618, 1968. 21. Sullivan JJ, Friend WD, Lee JF: Localized submucosal mucous cysts of the rectum (colitis cystica profunda). Med J Aust 1: 33, 1968. 22. Wayte DM, Helwig EB: Colitis cystica profunda. Am J C/in Patho148: 159, 1967. 23. Denton J: The pathology of pellagra. Am J Trop Med 5: 173, 1925. 24. Brynjolfsson G, Haley HB: Experimental enteritis cystica in rats. Am J Clin Pathol47: 69, 1967. 25. Clark JF, Muldoon JP: Colitis cystica profunda in an adenoma (adenomatous polyp). Dis Co/on Rectum 13: 387, 1970. 26. Thompson HR: Non-specific stricture of ampulla of rectum. Proc R Sot Med44: 197, 1951. 27. Castleman B: Mucocele of the sigmoid? Cancer Sem 3: 133, 1963.
The American Journal
of
Surgery
Gerald I. Green, MD, San Antonio, Texas Raul Ramos, MD, San Antonio, Texas George A. Bannayan, Arthur S. McFee,
MD, San Antonio, Texas
MD, PhD, FACS, San Antonio, Texas
Colitis cystica profunda was first described by Stark [I] in 1766. Virchow [2] presented a case in ,l863 and named the condition “colitis cystica polyposa.” For decades, descriptions of this disease were either confined to pathology texts or forgotten entirely. Colitis cystica profunda has been the subject of numerous reports since its first description in the English literature in 1957 [3]. Descriptions by American authors first appeared in 1966 [4-61. Since 1957, twenty articles describing fiftyone patients have been published [4-211. The chief importance of this benign entity lies in its differentiation from colonic mutinous adenocarcinoma. Our case is the first report in which endoscopic views are included. We hope that these pictures, together with a brief review of the literature, will help other physicians more readily recognize this benign condition which often may elude diagnosis and thus may lead to unnecessary radical operations. Case Report A twenty-five year old woman was admitted to the Bexar County Hospital in February 1973 because of the passage of excessive mucus and blood per rectum. The onset of symptoms dated back to age eight when she first noted an occasional mucoid rectal discharge. Short-
From the Departments of Surgery, Medicine, and Pathology, University of Texas Medical School at San Antonio, San Antonio, Texas. Reprint requests should be addressed to Dr McFee, Department of Surgery, University of Texas Medical School at San Antonio, San Antonio, Texas 78284.
Volume 127, June 1974
ly thereafter, small quantities of bright red blood coat-
ing the stool were noted; however, mucus or blood was intermittently passed and was unassociated with stools. In 1964, at age sixteen, she underwent hemorrhoidectomy without improvement in symptoms. In 1968, perianal condylomas were resected. Since then, the mucus discharge and rectal bleeding had increased in frequency to several times per week. In addition, the patient was experiencing tenesmus and mild rectal pain, exacerbated by bowel movements. The patient denied having pruritis, diarrhea, weight loss, nausea, abdominal pain, dysuria, and vaginal discharge. Family history was noncontributory. On admission, the patient was a thin, well nourished woman in no distress. The entire physical examination gave normal results with the exception of t,he rectal examination which revealed a firm, nontender, nonmovable, 2 by 1 cm mass on the anterior rectal wall. Proctoscopic examination revealed a 2 by 1 cm erythematous submucosal lesion extending 4 to 6 cm above the dentate line. There were several superficial ulcerations measuring 1 to 2 mm on the mucosal surface of this lesion. Biopsy of the lesion was interpreted as indicating colitis cystica profunda. Colonoscopy performed to a distance of 50 cm with the Olympus CF-MB colonoscope revealed the same endoscopic findings with no evidence of additional lesions. (Figure 1.) Barium enema examination showed nothing abnormal. Subsequently, with the patient under caudal anesthesia, local excision of the lesion was performed. The pathologist reported glandular mucus-filled cysts deep to the muscularis mucosae, some of which were lined with normal appearing epithelium. (Figures 2 and 3.) The final impression was colitis cystica profunda. The patient has been asymptomatic for three months since discharge.
749
Greenet al
Figure 1. A, c010noscOpic view showing an elevated submucosal mass with an area of superficial ulceration (small arrow) and the previous biopsy site (large arrow). 6, a view from another angle again shows the elevated submucosal nature of the lesion and the superficial ulceration (small arrow) and prior biopsy site (large arrow). White areas at the bottom of the illustration represent mucoid material. Comments
Colitis cystica profunda is a benign condition characterized by the presence of mucus-containing cysts in the submucosa of the colon and rectum. Grossly, there may be localized or diffuse nodular, polypoid, or plaquelike areas in the rectum or The lesion colon measuring 1 to 3 cm in diameter. is most commonly localized on the anterior rectal wall, usually 5 to 12 cm from the anal orifice. Seven cases of a diffuse form have been reported [11,12,22]. The mucosa overlying the cysts may show irregularly distributed areas of edema, hyperemia, hypertrophy, and atrophy with occasional superficial ulceration or central umbilication. On cut section, submucosal mucus-filled cysts are visible.
Microscopically, the cysts are deep to the muscularis mucosae. They either are lined with normal appearing columnar epithelium or may merely be filled with mucus which stains faintly basophilic. The condition should be differentiated from colitis cystica superficialis, in which numerous diffuse minute cysts are found superficial to the muscularis mucosae [3]. Some investigators believe that this entity is almost pathognomonic of pellagra; however, it may be encountered, although infrequently, in patients with sprue [25]. The cause of the condition from both congenital and acquired bases, has been considered [4,6,13,14,22,24,25]. Despite the suggestions of those who believe that colitis cystica profunda is of congenital origin, representing hamartoma formation, chronic inflammation has been accepted by
Figure 2. Rectal biopsy specimen showing the acinar formation penetrating beneath the muscularis mucosae. These glands are lined with benign columnar cells. Several mucous lakes are also seen (arrows). (Hematoxylin and eosin stal; origlnal magnification X 6.)
750
The American Journal of Surgery
Colitis (1bstica Protunda
Figure 3. Higher magnification of Figure 2 showing the dilated cystic appearance of the mucus-containing submucosai glands within a fiand brous stroma. (Hematoxyiin eosin stain; original magnification X 60.)
most investigators as the primary etiologic factor in the pathogenesis. Supporting the theory of inflammation is the work of Brynjolfsson and Haley [24]. These investigators, using rats, exteriorized a segment of small bowel which then developed lesions identical to those seen in colitis cystica profunda. Additional evidence to support inflammation as the basis for this disease is its association with ulcerative colitis and adenomatous polyps [3,9,12,16,22,26]. The observation of Herman and [IS], of demonstrated regression of cystic Nabseth changes in a patient after diverting colostomy was established, is interesting and strongly supports inflammation as the cause of the condition. Table I lists the presenting signs and symptoms in the fifty-two known cases of colitis cystica profunda. The predominant presenting complaints are bright red rectal bleeding and excessive mucus discharge. Often, there are lower abdominal cramps, diarrhea, and tenesmus. A rectal mass is usually present and, occasionally, rectal prolapse occurs. We have recorded the endoscopic appearance of the mass. Roentgenologically, the colon may appear normal or there may be single or multiple radiolucent filling defects. Colitis cystica profunda should be included in the differential diagnosis of any rectal or colonic polypoid or intramural mass. Although adenomatous polyps represent the entity with which it is most frequently confused, other causes for such a
Volume
127,
June
1974
lesion are endomerriosis, multiple f>olyposis, lipoma, leiomyoma, sarcoma, polypoid inflammatory granulomas such as those that. nay occur with schistosomiasis, ulcerative colitis, and Crohn’s disease, ischemic proctitis or colit,is with submucosal hemorrhage and edema, and, most importantly. a mucus-producing adenocarcinoma. IIifferentiation among these entities should be possihle with an adequat.e biopsy. Confusion arises when the pathologist misinterprets the hist oiogic specimen and suggests the possibility of carcinoma. A I)atient with colitis cystica profunda was presented
TABLE
I
Physical Findings, Symptoms, and Signs in Fifty-Two Patients with Colitis Cystica Profunda Number of Cases
___~
Physical findings Rectal mass or polyp Stenosis Ulcerative colitis Abnormal barium enema Rectal prolapse Symptoms and signs Rectal bleeding Diarrhea Mucus stools Pain Tenesmus Weight loss Previous rectal surgery ~~
40 4 18
33 16 117 9
4 12
751
Green et al
by Castleman [27] at a cancer seminar in 1963; approximately half the pathologists present diagnosed mutinous adenocarcinoma. Therapy should consist of local transanal excision or local resection for higher lesions. Incision of the cysts or partial excision has corrected symptoms in some patients [6,7,21]. Management by diverting colostomy has also been effective [16]. Seven of the fifty-one reported patients have undergone needless abdominoperineal resection. Colitis cystica profunda may not be as rare as previously thought. Rather, the paucity of cases may result from the lack of recognition of the lesion. This presentation of the endoscopic appearance of the lesion along with a review of all previously reported cases may help to increase awareness of this benign entity and to avoid unnecessary radical operations for relief of symptoms. References 1. Stark W: Specimen septem histories et dissectiones dysentericorum exhibens Thesis, Leiden, 1766. 2. Virchow R: Die Krankhaften geschwiilste, vol 1. Berlin, Hirschwald, 1863. p 243. 3. Goodall HB, Sinclair 1%: Colitis cystica profunda. J Patho/ 73: 33, 1957. 4. Allen MS: Hamartomatous inverted polyps of the rectum. Cancer 19: 257, 1966. 5. Castleman B: Clinical pathologic conference. N Engl J Med 275: 608. 1966. 6. Epstein SE, Ascari WO, Ablow RC. et al: Colitis cystica profunda. Am J Clin Pathol45: 186, 1966. 7. Ballas M, Nunel L, Miller EM: Localized colitis cystica profunda. Arch Surg 103: 406, 1971.
752
8. Barner JL: Colitis cystica profunda. Radiology89: 435, 1967. 9. Burt CAV, Handler BJ, Haddad JR: Colitis cystica profunda concurrent with and differentiated from mutinous adenocarcinoma. Dis Co/on Rectum 13: 460, 1970. 10. Capehart RJ, Graves JW: Colitis cystica profunda. J Kans MedSoc72: 385, 1971. 11. Carstens PHB, Gonzalez R: Colitis cystica profunda. Acta Pathol Microbial Stand 75: 273, 1969. 12. Castleman B: Clinical pathologic conference. N Engl J Med 286: 147, 1972. 13. Fechner RE: Polyp of the colon possessing features of colitis cystica profunda. Dis Colon Rectum 10: 359. 1967. 14. Ghani A: Colitis cystica profunda. Br J Surg 57: 596, 1970. 15. Grant KB, Roller GJ: Colitis cystica profunda. Radiology 89: 110, 1967. 16. Herman AH, Nabseth DC: Colitis cystica profunda: localized, segmental, and diffuse. Arch Surg 106: 337, 1973. 17. Howard RJ, Mannax SJ, Eusebio EB, et al: Colitis cystica profunda. Surgery69: 306, 1971. 18. Muldoon JP, Bowman HE, Asman HB: Colitis cystica profunda. Dis Colon Rectum 11: 220, 1968. 19. O’Brien SE, Shier KJ, Tuttle RJ: Colitis cystica profunda: a rare lesion of the ToIon. Can J Surg 14: 53, 197 1. 20. Scruggs FL, Duckworth JK: Colitis cystica profunda. South Med J61: 618, 1968. 21. Sullivan JJ, Friend WD, Lee JF: Localized submucosal mucous cysts of the rectum (colitis cystica profunda). Med J Aust 1: 33, 1968. 22. Wayte DM, Helwig EB: Colitis cystica profunda. Am J C/in Patho148: 159, 1967. 23. Denton J: The pathology of pellagra. Am J Trop Med 5: 173, 1925. 24. Brynjolfsson G, Haley HB: Experimental enteritis cystica in rats. Am J Clin Pathol47: 69, 1967. 25. Clark JF, Muldoon JP: Colitis cystica profunda in an adenoma (adenomatous polyp). Dis Co/on Rectum 13: 387, 1970. 26. Thompson HR: Non-specific stricture of ampulla of rectum. Proc R Sot Med44: 197, 1951. 27. Castleman B: Mucocele of the sigmoid? Cancer Sem 3: 133, 1963.
The American Journal
of
Surgery