Colitis Cystica Profunda: A Pediatric Case Report

By Thomas M. Krummel, Sandra Bell, Michael B. Kodroff, Wallace F. Berman, and Arnold M. Salzberg

O A case of colitis cystica profunda in a 14- year-old male is presented. The clinical and patho- logic management are reviewed. Differentiation from adenocarcinoma by careful histologic evalua- tion of the epithelium is fundamental in avoiding overtreatment.

INDEX WORDS: Colitis cystica profunda.

C O L I T I S C YS TIC A P R O F U N D A is a non- neoplastic lesion characterized by mucous-

containing cysts within the walls of the colon or rectum. Though relatively rare in adults and very rare in children, recognition of this condition is important to assure appropriate but not excessive treatment. Unfortunately, colitis cystica pro- funda has been mistaken for adenocarcinoma, 1 colloid carcinoma, 2 and inflammatory bowel dis- ease.

Stark first described a mucous cyst of the colon in 1766. 3 Virchow recorded a second case in 1863, 4 and by 1967 nine cases had been reported. 5'6'7 Since then, approximately 60 cases have been documented, but none, to our knowl- edge, has appeared in the pediatric literature.

CASE REPORT

A 14-year-old black male (MCV#532-31-83) was admit- ted to the Medical College of Virginia Hospital (5/79) with a three-year history of intermittent rectal bleeding diagnosed elsewhere, without documentation, as colitis. Two days prior to admission, he developed rectal pain and tenesmus. There was no nausea, vomiting, abdominal pain, constipation, diar- rhea, dysuria, t rauma, homosexual activity, or family history of gastrointestinal problems.

The patient was afebrile. The abdomen was soft and nontender with normal bowel sounds. A 3 • 3 cm firm, tender, movable, anterior mass was found just above the prostate on rectal examination.

The blood count, serum chemistries, urinalysis, and

From the Department of Surgery, Division of Pediatric Surgery, Department of Radiology, Division of Pediatric Radiology, Department of Pediatrics and the Division of Pediatric Gastroeneterology of the Virginia Commonwealth University, Medical College of Virginia Richmond, Virgin- ia.

Please address reprint requests to Arnold M. Salzburg, M.D., 1200 E. Broad Street, P.O. Box 15, Richmond, VA 23298.

�9 1983 by Grune & Stratton, Inc. 0022-3468/83/1803~9027501.00/0

abdominal roentgenograms were normal. The stool was guaiac negative.

At proctosigmoidoscopy, there was a 3 x 3 em sessile mass found on the left anterior wall 7 cm from the anocutaneous margin with intact but inflammed mucosa. The remainder of the examination to 25 cm was normal.

An air contrast barium enema demonstrated the features of an intramural extramucosal mass. The mucosa was intact with no evidence of fixation, nodularity, or the presence of inflammatory bowel disease in the colon or terminal ileum.

In the operating room under general anesthesia, the patient was placed in the ventral jacknife position and the anus dilated. The tumor was prolapsed into a low, accessible position, generous incisional biopsy was done and mucosa was approximated. Because of size and location, complete exci- sion may have required elaborate reconstruction and colon diversion. Histologic study demonstrated mucous-filled cysts below the muscularis mucosa with normal-appearing colonic mucosa lining the cysts. A diagnosis of colitis cystica pro- funda was made.

The patient was seen at three, six, and nine months for follow-up examinations. He was asymptomatic except for occasional, minimal rectal bleeding. Proctoscopic examina- tion showed a 1 • 1 cm residual tumor with normal overlying macosa.

DISCUSSION

Diagnosis

Patients with colitis cystica profunda com- monly present with rectal bleeding, mucous dis- charge, and diarrhea. Tenesmus is occasionally present. These symptoms may occur singly or in combination for months or years prior to diagno- sis. Although most patients do not have asso- ciated gastrointestinal problems, diverticular or inflammatory bowel disease may occasionally be concurrent. The ages of patients previously reported vary from 4 to 80, with only one below the age of 17. ~'g

Physical examination of the abdomen is usually unremarkable. The rectal examination is normal in 35% of the patients; however, a poly- poid, cauliflower-like tumor is often palpable. The lesion may be present anywhere from the anus to the sigmoid. Proctosigmoidoscopy will usually demonstrate the benign mass on the anterior wall of the rectum, 5 to 12 cm from the anus. The mucosa may be intact, or show superfi- cial ulcerations. Routine laboratory tests are nonspecific. Barium enema findings are nondiag- nostic, demonstrating only a space-occupying

314 Journal of Pediatric Surgery, Vol. 18, No. 3 (June), 1983

COLITIA CYSTICA PROFUNDA 315

lesion. Ulcerations may be visible. Most com- monly the tumor is discrete, but a small percent- age present with more diffuse colonic involve- ment. t

The findings on barium enema in the solitary form of colitis cystica profunda may mimic a mucosal lesion such as a polypoid adenocarcino- ma. Ulceration has been described above. 9'1~ In our patient, however, the young age, rectal loca- tion, and radiographic features made malig- nancy unlikely. In general, the differential diag- nosis would also include leiomyoma, duplication cyst, overgrowth of any other wall elements, adenocarcinoma, lymphoma, villous adenoma, benign polyps, colon endometriosis, inflamma- tory bowel disease, neurofibroma, carcinoid, and a polypoid reaction to schistosomiasis.

Pathology

Although colitis cystica profunda may be con- genital in origin, 6 an acquired etiology is favored by most. Goodall and Sinclair 5 have suggested that mucosal cells are implanted within the sub- mucosa following inflammation.

Grossly, a thickening of the bowel wall is seen with submucosal cysts from 0.1 to 1.0 cm in diameter. Mucosal ulcerations are sometimes present. Microscopically, mucous-filled cysts are present, deep to the muscularis mucosa. The cysts are lined with normal-appearing colonic epithelium. Evidence of chronic inflammation is occasionally present.

Though these findings are quite characteristic of colitis cystica profunda, the lesion can, and has

been, misdiagnosed as a mucous-producing car- cinoma. 5'7 There are no reports of malignant transformation of any area of colitis cystica profunda.

Treatment

The definitive diagnosis of colitis cystica pro- funda rests upon the microscopic examination of an adequate, representative specimen from inci- sional or excisional biopsy.

Rectal lesions that can be prolapsed into the operative field can be excised if small, and they can be generously incised if excision would lead to complicated reconstruction, staged proce- dures, or diverting colostomy. In either instance, an ample biopsy will provide for a correct diagno- sis and carcinoma will be excluded. Biopsies of sigmoid or low-colon disease are done endoscopi- cally. Unfortunately, such specimens may not be adequate or representative, and the diagnostic quandry must be settled by resection and coloco- lostomy. A similar surgical approach might be used for securely documented colon lesions with persistent symptoms or multiplicity. Obstruction may require resection with temporary celeste- my.

Comment

The most important histologic feature of coli- tis cystica profunda is the complete absence of any atypical cells in the cyst epithelium. Without unequivocal cytologic evidence of malignancy, colonic wall cysts, especially in the young, should be treated conservatively.

REFERENCES 1. Stolar J, Silver H: Differentiation of pseudoinflamma-

tory colloid carcinoma from colitis eystica profunda. Dis Col Rectum 12:63-66, 1969

2. Burt CAV, Handler B J, Haddad JR: Colitis cystica profunda concurrent with and differentiated from mucinous adenocarcinoma. Dis Col Rectum 13:460-469, 1970

3. Stark W: Specimen septem historias et dissectiones dysentericorum exhibens. Thesis, Leiden, 1766

4. Virchow R: Die Krankhaften Geschwulste, vol. I. Ber- lin, A Hirschwald, 1863, p 243

5. Goodall HB, Sinclair ISR: Colitis cystica profunda. J Pathol Bacteriol 73:33~,2, 1957

6. Allen MS: Hamartomatous inverted polyps of the rec- tum. Cancer 19:257-265, 1966

7. Epstein SE, Ascari WQ, Ablow RL, et al: Colitis cystica profunda. Am J Clin Patho145:186-201, 1966

8. Wayte DM, Helwig EB: Colitis cystica profunda. Am J Clin Pathol 48:159-169, 1967

9. Eschar J, Kohn R, Alkan W J: Colitis cystica profunda. lsr J Med Sci 8:1993-2003, 1972

10. Madigan MR, Morson BC: Solitary ulcer of the rectum. Gut 10:871, 1969

11. Bravo AT, Lowman RM: Benign ulder of the sigmoid colon. Radiology 90:113, 1968

12. Grant KB, Roller G J: Colitis cystica profunda. Radi- ology 89:110, 1967