Perianal Endometrioma: Report of Five Cases* PHILIP H. GORDON, M.D. Montreal, P.Q., Canada JERRY L. SCHOTTLER, M.D., ]~MMANUEL G. BALCOS, M.D., STANLEY M . GOLDBERG, M.D. Minneapolis, Minnesota
ILNDOMETRIOSIS is o n e of the most comm o n , i n t e r e s t i n g , and, o n occasion, t r y i n g lesions which the gynecologist is called u p o n to treat. It is e s t i m a t e d that pelvic e n d o m e t r i o s i s is f o u n d in l0 to 25 per cent of l a p a r o t o m i e s p e r f o r m e d by gynecologists, d e p e n d i n g u p o n tile observers' ability to recognize its m a n i f e s t a t i o n s . 2 E n d o m e t r i osis may be defined as the ectopic l o c a t i o n of f u n c t i o n i n g e n d o m e t r i a l glands a n d stroma. Far a n d away the most f r e q u e n t ectopic locations i n c l u d e , i n d e s c e n d i n g order of frequency, the ovaries, u t e r i n e ligaments ( r o u n d , b r o a d , uterosacral), rectov a g i n a l septum, a n d pelvic p e r i t o n e u m cove r i n g the uterus, tubes, rectum, sigmoid colon, or bladder. O t h e r i n f r e q u e n t locations where e n d o m e t r i o s i s has been identified i n c l u d e tile u m b i l i c u s , l a p a r o t o m y scars, h e r n i a l sacs, a p p e n d i x , vagina, vulva, cervix, t u b a l stumps, o m e n t u m , l y m p h nodes, a n d p e r i n e u m . Still rarer locations i n c l u d e the u p p e r a n d lower extremities (arm a n d thigh), the l u n g a n d p l e u r a l cavity, nasal mucosa, a n d kidney. Intravesical e n d o m e t r i o m a a n d e n d o m e t r i o s i s of the ureter have b e e n reported. W h e n the granular structures become cystic a n d achieve a sizeable d i m e n s i o n , the lesion is t h e n often dignified by the term of " e n d o m e t r i o m a . " Despite the fact that the presence of endometriosis is c o m m o n p l a c e , the f i n d i n g of a
p e r i a n a l e n d o m e t r i o m a is n o ntore t h a n a surgical curiosity, even i n the practice of a busy colorectal surgeon. Schickele, t3 i n 1923, was a p p a r e n t l y the first to r e p o r t a case of p e r i n e a l endometriosis. Cheleden, 1 in 1968, reviewed the l i t e r a t u r e a n d f o u n d only 38 cases of e n d o m e t r i o s i s i n v o l v i n g the p e r i n e u n l . A few more bad been m e n t i o n e d by 1971, w h e n R a m s e y 10 r e p o r t e d a n o t h e r case. P a u l l a n d TedeschiS r e p o r t e d 15 cases of e n d o m e t r i o s i s o c c u r r i n g at the site of an episiotomy scat'. T h e present r e p o r t describes five confirmed cases of p e r i a n a l e n d o m e t r i o m a . R e p o r t of Five Cases P a t i e n t I: A 37-year-old mother of two children had rectal pain, pruritus ani, and anorectal irritation of five months' duration. Numer0ils examinations had been performed in this time without demonstration of any disease. There was no hematochezia, no pain with bowel movements, nor any change in bowel habits. No relief was obtained with various suppositories and ointments. Physical examination revealed an indurated, tender, subcutaneous nodule to the right and anterior to the anus. Proctosigmoidoscopic examination to 95 cm disclosed no abnormality. The patient had excision of the nodule, which involved the sphincter mechanism. Because of its black color it was at first believed to represent a malignant melanoma, but instead it proved to be a perianal endometfioma. Follow-up examination at five months revealed a question of a tiny nodule in the operative region, possibly representing a recurrence. P a t i e n t 2: A 27-year-old woman who had had four normal pregnancies had had intermittent problematic hemorrhoids for 3 years. She complained of painful bowel movements with some rectal bleeding. The pain was worse with menses. Again, no relief was obtained with suppositories. Physical examination revealed a tender perianal lump in the right anterior region just at the end of the previous
* Read at the meeting of the American Society of Colon and Rectal Surgeons, San Francisco, California, May 4 to 8, 1975. Address reprint requests to Dr. Gordon: Jewish General Hospital, 8755 Cote St. Catherine Road, Montreal, Quebec, H3T1E2, Canada. 260 Dis. Col. & Rect. April 1976
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episiotomy scar. With a preoperative diag'nosis of perianal endometrioma, a mass of 2.9 cm in maximum diameter which contained several cysts filled with chocolate-colored material was excised. Followup examination at 12 months found the patient to be doing well. Patient 3: A 28-year-old woman, mother of two children was seen by her physician in May 1968 because of a painful prr)trusion. T h e pain was worse during menstruation, but cleared up following menses. T h e protrusion was manually replaced following bowel movements. Bowel function was regular at once per day without constipation or bleeding. There was no history of an absccss. Physical examination revealed small tags, slight anal stenosis, and small mixed hemorrhoids. In February 1971 she had an abdominal hysterectomy, with pathologic studies disclosing adenomyosis throughout the myometrium. In November 1971 she sought treatment for a "vein" that swelled every month. A Barton ligature was applied in the left anterior quadrant, and the question of the diagnosis of proctalgia fugax was raised in the surgeon's mind. In February 1972 an "abscess" developed in the left anterior quadrant; it was drained, and the question of a neoplasm or old organized abscess was considered. Biopsy showed granulation tissue. T h e patient returned to the office two weeks later with continuous drainage, at which time the diagnosis of anal fistula was made, and the patient was scheduled for operation. In May 1972, a lesion was excised from the left anterior region. It proved to be a perianal endometrioma. T h e lesion was 2.5 • 2.5 cm in size, a cystic structure with a wall of chronic inflammatory tissue with a cavity containing old blood. T h e cyst was nestled right next to the sphincter mechanism. There was no evidence of any recurrence in a follow-up period of two years and eight months. Patient 4: A 36-year-old woman who had had six pregnancies had a perianal lump. There was no abdominal complaint. Physical examination revealed a nontender mass which was cystic, mobile, and in the right anterior aspect of the perianal tissues. It was believed likely to be a sebaceous cyst. W h e n this structure was excised it was found to be a cystic bluish-hued mass fixed to the external sphincter. It was grossly 1:5 X 1.2 cm, a multicystic nodule containing thick chocolate-colored fluid. Microscopically the diagnosis of a perianal endometrioma was made. Patient 5: A 37-year-old woman had a six-month history of pain in the perianal region associated with a mass which increased in size and became very painful during her menstrual period. T h e pain was described as incapacitating for a week following menses. T h e patient had two children, 5 and 10 years old. Prior to the birth of her first child she had had pelvic endometriosis, but following that pregnancy she had had no further problem.
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On examination a tender nodule was palpable deep within the sphincter mechanism in continuity with the distal end of the old episiotomy scar. At operation the multilobulated lesion was a rather complicated one, being dumbbell-shaped. It was buried deep within the anterior portion of the sphincter mechanism, becoming an integral part of the extcrnal sphincter and abutting directly upon and lmrrowing into the internal sphincter. Following excision of the mass it was necessary to perform a sphincteroplasty, which was accomplished by mobilizing lhe cdges of the sphincter, overlapping them, and plicating them with 2-0 cbromic catgm. Microscopy confirmed the diagnosis of perianal en(lometrinma (Figs. 1 and 2). T h e patient is totally continent aud pain-free live momhs after operation.
Histogenesis T h e p a t h o g e n e s i s of e n d o m e t r i o s i s h a s b e e n a n d c o n t i n u e s to b e c o n t r o v e r s i a l . 6- 7 T h e p r e v a i l i n g t h e o r i e s i n c l u d e : 1) t r a n s tt,bal regurgitation of menstrual blood; 2) t h e c o e l o m i c m e t a p l a s i a d o c t r i n e ; 3) lymphatic dissemination; 4) I m m a t o g e n o u s spread. I n 1921, S a m p s o n la d e s c r i b e d h i s " r e t r o grade menstrt,ation" theory, in which endom e t r i a l p a r t i c l e s a t t h e t i m e of m e n s t r u a tion traversed the fallopian tubes and subseqt, ently became implanted t,pon structures in the pelvis. This theory might e x p l a i n t h e m a j o r i t y o f cases of p e l v i c e n d o m e t r i o s i s b u t c e r t a i n l y c o u l d n o t explain the remote bizarre locations. A variat i o n of t h i s t h e m e m i g h t b e i n v o k e d t o e x p l a i n t h e p r e s e n c e of e n d o m e t r i a l t i s s u e i n t h e e p i s i o t o m y scar. H e r e , i m p l a n t a t i o n might occur during delivery. A n o t h e r c o m m o n l y f a v o r e d t h e o r y is t h a t o f m e t a p l a s i a of t h e c o e l o m i c e p i t h e l i u m . Embryologically the endometrium is derived from the lining of the miillerian duct, itself a derivative of the lining of the c o e l o m i c c a v i t y . M e y e r , i n 1919, p o s t u l a t e d t h a t as a r e s u l t o f a b n o r m a l d i f f e r e n t i a t i o n of g e r m i n a l e p i t h e l i u m i n t h e p e l v i c p e r i toneum, endometrial glands and stroma m i g h t arise. B u t t h i s t h e o r y , a l t h o u g h exp l a i n i n g a g a i n a m a j o r i t y of cases o f e n d o metriosis, would n o t expl~fin cases of
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Fro. 1. Endometrial glands in edemalous stroma with extravasated collections of blood (low power). endometrial tissue located in the nasal cavity or in the perianal region. T h e theory of lymphatic dissemination, enunciated by Halban, is even less tenable, but might be a factor in some cases. T h e last theory, that of hematogenous spread, may be the explanation for the bizarre remote sites of endometriosis such as the above-mentioned nasal cavity and perianal tissues. It may indeed be that no one of these theories is satisfactory and that a combination of factors results in the clinical condition of endometriosis. Although the histogenesis of perianal e n d o m e t r i o m a is obviously not clear, to our minds, it is best explained by the implantation theory.
Pathology Endometriosis may manifest many, varied patterns, n Because these foci of endometrium are under hormonal influence, they undergo cyclical menstrual changes with periodic bleeding. As a result, reddish-blue
to yellowish-brown implants may be found. T h e y vary from microscopic lesions to 1-2 cm in diameter. T h e y may enlarge and coalesce. Because of the irritative effect of blood, the nodules may provoke a marked fibroblastic proliferation, resulting in dense fibrous nodules. Because of periodic bleeding into the "cystic structures," the cysts have become known as "chocolate cysts." As the blood undergoes organization, involved areas may be converted to the dense fibrous scars characteristically containing a large a m o u n t of hemosiderin pigment and lipid debris. Paradoxically enough, the diagnosis may be most difficult in the advanced florid long-standing cases because, as the disease progresses, the fibroproliferative response progressively obliterates recognizable features. T h e definite histologic diagnosis usually requires two of the three following features: stroma, glands, and hemosiderin pigment, the stroma being the most important element. Microscopically the edematous endometrial stroma with an
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FIG. 2. Endometrial epithelial cell lining of glands, spindle-shaped fibroblast cells of stroma, with inflammatory cells and hemosiderin-laden macrophages (high power).
inflammatory infiltrate is often characteristic. Glands with their endometrial epithelial lining can be demonstrated together with hemosiderin-laden macrophages, which may also frequently be seen. Collections of blood are also often present (Figs. 1 and 2). Clinical F e a t u r e s Endometriosis is characteristically a disease of the reproductive years of life, occurring most frequently between 30 and 40 years of age. Of interest in these presented cases is the age group, which was somewhat lower than the usual age g-roup for patients with endometriosis. T h e clinical manifestations of endometriosis are dependent upon the functional activity of the involved tissue. In the case of perianal endometrioma, the lesion may present as meekly as an asymptomatic mass or in the classic fashion, with a painful mass, this specifically being so during menstruation. T h e mass, in fact, may become noticeable only at the time of men-
struation, when it becomes larger and more painful. It subsides several days after the termination of menses. T h e protean manifestations of this condition are readily illustrated by the above cases. In only two of these cases was the diagnosis made preoperatively, while tlle diagnoses in tile others were anal fistula, perianal endometrioma, and sebaceous cyst. On physical examination, the lesions are usually found in old episiotomy scars. This fact may stq)port the implantation theory of etiology, where the endometrial cells are implanted at tile time of episiotomy. Snch lesions inay also be found following other forms of surgical or ol)stetrical trauma. 9 T h e onset of symptoms has become apparent as early as 45 days 8 and as late as 14 years 9 from the time of delivery and perineal trauma. T h e diagnosis is essentially made on the basis of the relationship of symptoms to menstruation, the bloody nature of secretions, and the morphology of the nodules
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found. T h e differential diagnosis includes anal fistula with abscess formation, thrombosed hemorrhoids, perianal melanoma, sebaceous cyst, hidradenitis suppurativa, dermoid cysts, presacral tumors, specific inflammations such as tuberculosis or actinomycosis, trauma with resolving hemat o l n [ l , carcinoma of the rectum, anal canal, or vulva, and basal-cell or squamous-cell carcinoma of the perianal skin. T r e a t m e n t and Discussion Because this lesion is so readily accessible and because the exact nature of it is frequently not known preoperatively, the treatment of choice is undoubtedly local excision. In doing so, one should take great care not to injure the anal sphincter mechanism, as these lesions are not infrequently intimately associated with the muscle. Plastic repairs and reinforcements of the sphincter may be necessary where the lesion is excised, because the sphincter muscle may be considerably thinned in the area of the excision. Reappearance of the lesion usually represents inadequate initial removal rather than recurrence. It has been suggested by Minvielle and de la C r u # that complementary hormonal therapy might be indicated, based on the fact that endometriomas are multiple and small ones m~y not be detected at the time of operation or by follow-up studies. Such exogenous hormones may cause necrosis of the decidua and absorption of areas of endometriosis. T h e y stated that probably six months of treatment would destroy any of the imperceptible implants. However, the value of such therapy is not yet proven. Pregnancy, if desired, has been strongly encouraged in cases of pelvic endometriosis, and this has led to total amelioration of symptoms in m a n y patients. However, in cases of perianal endometrioma, pregnancy, or more specifically, delivery with episi-
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otomy, seems to have been etiologic, since all our patients fall into this category. Estrogen therapy alone is not logical, since endometriosis exists in a milieu of hyperestrogenism. Oral progestins, advocated by Kistner? have been used effectively and are the current hormonal treatment of choice in pelvic endometriosis. 4 Disadvantages of such treatment include toxicity involving nausea, vomiting, anorexia, lleadache anti pyrexia, considerable generalized uterine enlargement, significant breast enlargement with increased vascularity, pain and tenderness, decreased libido and sterilization. Tile effects may be temporary, and tiffs treatment is ineffective for large masses of endometriosis. Androgens may dramatically affect symptoms, albeit temporarily, but they may be used to test a diagnosis for certainty. If symptoms are not relieved by androgens tlleir cause is unlikely to be endometriosis. Apart from their diagnostic value, androgens may be as effective as progestins in long-term treatment of multiple and small inaccessible lesions occurring in young women, but they carry a high virilizing risk and hence are not currently used. Testosterone may cause amelioration of symptoms without impairing ovulation and is worth a trial in young patients desiring pregnancy, but this is p r o b a b l y not applicable in cases of perianal endometrioma. In a w o m a n who is troubled with debilitating symptoms and is at the end of her childbearing years or is no longer interested in having a family, a total abdominal hysterectomy and bilateral salpingo-oophorectomy might be considered, as in the case of pelvic endometriosis. All endometrial tissue does not necessarily have to be removed in the face of endometriosis in order to relieve symptoms. So long as all the ovarian tissue is excised, the patient's condition will improve.
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I n p a t i e n t s m o r e t h a n 40 years old, the p o o r - r i s k surgical p a t i e n t , or in cases w h e r e s y m p t o m s persist or r e c u r after c o n s e r v a t i v e o p e r a t i o n , r a d i o t h e r a p y m a y effectively b e used to cause d e s t r u c t i o n of o v a r i a n function, thus a l l e v i a t i n g the s y m p t o m a t o l o g y of e n d o m e t r i o s i s . H o w e v e r , x-ray c a s t r a t i o n has been d i s c o n t i n u e d at the B o s t o n Hosp i t a l for W o m e n because of the p o s s i b i l i t y of s u b s e q u e n t c a r c i n o m a of the cervix, e n d o m e t r i u m or owtry, a n d because serious i n j u r i e s to the large a n d small bowel m a y occur as late s e q u e l a e ?
Summary O n e of the gynecologists' c o m m o n e s t findings at pelvic l a p a r o t o m y is e n d o m e t r i o s i s . D e s p i t e the fact t h a t the presence of endom e t r i a l tissue in e c t o p i c l o c a t i o n s is comm o n p l a c e , the f i n d i n g of a p e r i a n a l endom e t r i o m a is no m o r e titan a surgical curiosity. Very few cases have b e e n rep o r t e d . T h e p r e s e n t r e p o r t describes five such verified cases. I n t e r e s t i n g l y e n o u g h , only two of the five cases were d i a g n o s e d preoperatively. T h e p a t h o g e n e s i s of e n d o m e t r i o s i s has been, a n d c o n t i n u e s to be, c o n t r o v e r s i a l . T h e p r e v a i l i n g theories i n c l u d e 1) transt u b a l r e g u r g i t a t i o n of m e n s t r u a l b l o o d , 2) the c o e l o m i c m e t a p l a s i a d o c t r i n e , 3) lymp h a t i c d i s s e m i n a t i o n , a n d 4) h e m a t o g e n o u s spread. P a t h o l o g i c a l l y the lesions m a y vary grossly f r o m r e d - b l u e to y e l l o w i s h - b r o w n i m p l a n t s , r a n g i n g in size f r o m m i c r o s c o p i c to 1-2 cm in d i a m e t e r . T h e d e f i n i t i v e histologic diagnosis r e q u i r e s two of the f o l l o w i n g three f e a t u r e s - - g l a n d s , s t r o m a , and hemosiderin pigment. The clinical m a n i f e s t a t i o n s d e p e n d u p o n the f u n c t i o n a l activity of the i n v o l v e d tissue a n d m a y r a n g e f r o m an a s y m p t o m a t i c mass to the classic p r e s e n t a t i o n of a ntass i n c r e a s i n g i n size a n d b e c o m i n g acutely p a i n f u l d u r i n g
m e n s t r u a t i o n b u t s u b s i d i n g in size a n d d e c r e a s i n g in t e n d e r n e s s b e t w e e n m e n s t r u a l periods. T h e s e p r o t e a n m a n i f e s t a t i o n s are r e a d i l y i l l u s t r a t e d by the cases p r e s e n t e d . A n a t o m i c a l l y the lesions are u s u a l l y f o u n d in o l d e p i s i o t o m y scars. Because these lesions are u s u a l l y r e a d i l y accessible, a n d because t h e i r exact n a t u r e is f r e q u e n t l y n o t k n o w n p r e o p e r a t i v e l y , the t r e a t m e n t of choice is local excision. C o m p l e m e n t a r y h o r m o n a l t h e r a p y has b e e n suggested, b u t the v a l u e of such t r e a t m e n t is n o t yet proven. O w t r i a n a b l a t i v e t h e r a p y is also considered. References I. Cheleden J: Endometriosis of the perineum: Report of two cases. South Med J 61: 1313, 1968 2. Jeffcoate TN: Principles of Gynaecology. Second edition. London, Butterworth & Co, 1962, p 398 3. Kismer RW: The use of newer progestins in the treatment of endometriosis. Am J Obstet Gynecol 75: 264, 1958 4. Kismer RW: Gynecology, Principles and Practice. Second edition. Chicago, Year Book Medical Publishers, chapter 8, 1971, p 446 5. Minvielle L, de la Cruz JV: Endometriosis of the anal canal: Presentation of a case. Dis Colon Rectum 11:32, 1968 6. Novak ER, .]ones GS, Jones HW: Novak's Textbook of Gynecology. Seventh edition. Baltimore, Williams and Wilkins, 1965, p 512 7. Novak ER, Woodruff JD: Novak's Gynecologic and Obstetric Pathology'. Sixth edition. Philadelphia, W. B. Saunders, 1967, p 40 8. Paull T, Tedeschi LG: Perineal endometriosis at the site of episiotomy scar. OI)stet Gynecol 40: 28, 1972 9. Prince LN, Abrams J: Endometriosis of the perineum: Review of the literature and case report. Am J Obstet Gynecol. 73: 890, 1957 10. Ramsey Wlt: Endometrioma involving the perianal tissues: Report of a case. Dis Colon Rectum 14:366, 1971 ll. Robbius SL: Pathology. Third edition. Philadelphia, W. B. Saunders, 1967, p 1126 12. Sampson JA: Perforating hemorrhagic (chocolate) cysts of the ovary: Their importance and especially their relation to pelvic adenomas of endonletrial type ("adenomyoma" of the uterus, reetovaginal sepmm, sigmoid, etc.). Arch Surg 3: 245, 1921 13. Shickele M: Quoted by Prince I,N. Abrams .]~'
ILNDOMETRIOSIS is o n e of the most comm o n , i n t e r e s t i n g , and, o n occasion, t r y i n g lesions which the gynecologist is called u p o n to treat. It is e s t i m a t e d that pelvic e n d o m e t r i o s i s is f o u n d in l0 to 25 per cent of l a p a r o t o m i e s p e r f o r m e d by gynecologists, d e p e n d i n g u p o n tile observers' ability to recognize its m a n i f e s t a t i o n s . 2 E n d o m e t r i osis may be defined as the ectopic l o c a t i o n of f u n c t i o n i n g e n d o m e t r i a l glands a n d stroma. Far a n d away the most f r e q u e n t ectopic locations i n c l u d e , i n d e s c e n d i n g order of frequency, the ovaries, u t e r i n e ligaments ( r o u n d , b r o a d , uterosacral), rectov a g i n a l septum, a n d pelvic p e r i t o n e u m cove r i n g the uterus, tubes, rectum, sigmoid colon, or bladder. O t h e r i n f r e q u e n t locations where e n d o m e t r i o s i s has been identified i n c l u d e tile u m b i l i c u s , l a p a r o t o m y scars, h e r n i a l sacs, a p p e n d i x , vagina, vulva, cervix, t u b a l stumps, o m e n t u m , l y m p h nodes, a n d p e r i n e u m . Still rarer locations i n c l u d e the u p p e r a n d lower extremities (arm a n d thigh), the l u n g a n d p l e u r a l cavity, nasal mucosa, a n d kidney. Intravesical e n d o m e t r i o m a a n d e n d o m e t r i o s i s of the ureter have b e e n reported. W h e n the granular structures become cystic a n d achieve a sizeable d i m e n s i o n , the lesion is t h e n often dignified by the term of " e n d o m e t r i o m a . " Despite the fact that the presence of endometriosis is c o m m o n p l a c e , the f i n d i n g of a
p e r i a n a l e n d o m e t r i o m a is n o ntore t h a n a surgical curiosity, even i n the practice of a busy colorectal surgeon. Schickele, t3 i n 1923, was a p p a r e n t l y the first to r e p o r t a case of p e r i n e a l endometriosis. Cheleden, 1 in 1968, reviewed the l i t e r a t u r e a n d f o u n d only 38 cases of e n d o m e t r i o s i s i n v o l v i n g the p e r i n e u n l . A few more bad been m e n t i o n e d by 1971, w h e n R a m s e y 10 r e p o r t e d a n o t h e r case. P a u l l a n d TedeschiS r e p o r t e d 15 cases of e n d o m e t r i o s i s o c c u r r i n g at the site of an episiotomy scat'. T h e present r e p o r t describes five confirmed cases of p e r i a n a l e n d o m e t r i o m a . R e p o r t of Five Cases P a t i e n t I: A 37-year-old mother of two children had rectal pain, pruritus ani, and anorectal irritation of five months' duration. Numer0ils examinations had been performed in this time without demonstration of any disease. There was no hematochezia, no pain with bowel movements, nor any change in bowel habits. No relief was obtained with various suppositories and ointments. Physical examination revealed an indurated, tender, subcutaneous nodule to the right and anterior to the anus. Proctosigmoidoscopic examination to 95 cm disclosed no abnormality. The patient had excision of the nodule, which involved the sphincter mechanism. Because of its black color it was at first believed to represent a malignant melanoma, but instead it proved to be a perianal endometfioma. Follow-up examination at five months revealed a question of a tiny nodule in the operative region, possibly representing a recurrence. P a t i e n t 2: A 27-year-old woman who had had four normal pregnancies had had intermittent problematic hemorrhoids for 3 years. She complained of painful bowel movements with some rectal bleeding. The pain was worse with menses. Again, no relief was obtained with suppositories. Physical examination revealed a tender perianal lump in the right anterior region just at the end of the previous
* Read at the meeting of the American Society of Colon and Rectal Surgeons, San Francisco, California, May 4 to 8, 1975. Address reprint requests to Dr. Gordon: Jewish General Hospital, 8755 Cote St. Catherine Road, Montreal, Quebec, H3T1E2, Canada. 260 Dis. Col. & Rect. April 1976
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episiotomy scar. With a preoperative diag'nosis of perianal endometrioma, a mass of 2.9 cm in maximum diameter which contained several cysts filled with chocolate-colored material was excised. Followup examination at 12 months found the patient to be doing well. Patient 3: A 28-year-old woman, mother of two children was seen by her physician in May 1968 because of a painful prr)trusion. T h e pain was worse during menstruation, but cleared up following menses. T h e protrusion was manually replaced following bowel movements. Bowel function was regular at once per day without constipation or bleeding. There was no history of an absccss. Physical examination revealed small tags, slight anal stenosis, and small mixed hemorrhoids. In February 1971 she had an abdominal hysterectomy, with pathologic studies disclosing adenomyosis throughout the myometrium. In November 1971 she sought treatment for a "vein" that swelled every month. A Barton ligature was applied in the left anterior quadrant, and the question of the diagnosis of proctalgia fugax was raised in the surgeon's mind. In February 1972 an "abscess" developed in the left anterior quadrant; it was drained, and the question of a neoplasm or old organized abscess was considered. Biopsy showed granulation tissue. T h e patient returned to the office two weeks later with continuous drainage, at which time the diagnosis of anal fistula was made, and the patient was scheduled for operation. In May 1972, a lesion was excised from the left anterior region. It proved to be a perianal endometrioma. T h e lesion was 2.5 • 2.5 cm in size, a cystic structure with a wall of chronic inflammatory tissue with a cavity containing old blood. T h e cyst was nestled right next to the sphincter mechanism. There was no evidence of any recurrence in a follow-up period of two years and eight months. Patient 4: A 36-year-old woman who had had six pregnancies had a perianal lump. There was no abdominal complaint. Physical examination revealed a nontender mass which was cystic, mobile, and in the right anterior aspect of the perianal tissues. It was believed likely to be a sebaceous cyst. W h e n this structure was excised it was found to be a cystic bluish-hued mass fixed to the external sphincter. It was grossly 1:5 X 1.2 cm, a multicystic nodule containing thick chocolate-colored fluid. Microscopically the diagnosis of a perianal endometrioma was made. Patient 5: A 37-year-old woman had a six-month history of pain in the perianal region associated with a mass which increased in size and became very painful during her menstrual period. T h e pain was described as incapacitating for a week following menses. T h e patient had two children, 5 and 10 years old. Prior to the birth of her first child she had had pelvic endometriosis, but following that pregnancy she had had no further problem.
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On examination a tender nodule was palpable deep within the sphincter mechanism in continuity with the distal end of the old episiotomy scar. At operation the multilobulated lesion was a rather complicated one, being dumbbell-shaped. It was buried deep within the anterior portion of the sphincter mechanism, becoming an integral part of the extcrnal sphincter and abutting directly upon and lmrrowing into the internal sphincter. Following excision of the mass it was necessary to perform a sphincteroplasty, which was accomplished by mobilizing lhe cdges of the sphincter, overlapping them, and plicating them with 2-0 cbromic catgm. Microscopy confirmed the diagnosis of perianal en(lometrinma (Figs. 1 and 2). T h e patient is totally continent aud pain-free live momhs after operation.
Histogenesis T h e p a t h o g e n e s i s of e n d o m e t r i o s i s h a s b e e n a n d c o n t i n u e s to b e c o n t r o v e r s i a l . 6- 7 T h e p r e v a i l i n g t h e o r i e s i n c l u d e : 1) t r a n s tt,bal regurgitation of menstrual blood; 2) t h e c o e l o m i c m e t a p l a s i a d o c t r i n e ; 3) lymphatic dissemination; 4) I m m a t o g e n o u s spread. I n 1921, S a m p s o n la d e s c r i b e d h i s " r e t r o grade menstrt,ation" theory, in which endom e t r i a l p a r t i c l e s a t t h e t i m e of m e n s t r u a tion traversed the fallopian tubes and subseqt, ently became implanted t,pon structures in the pelvis. This theory might e x p l a i n t h e m a j o r i t y o f cases of p e l v i c e n d o m e t r i o s i s b u t c e r t a i n l y c o u l d n o t explain the remote bizarre locations. A variat i o n of t h i s t h e m e m i g h t b e i n v o k e d t o e x p l a i n t h e p r e s e n c e of e n d o m e t r i a l t i s s u e i n t h e e p i s i o t o m y scar. H e r e , i m p l a n t a t i o n might occur during delivery. A n o t h e r c o m m o n l y f a v o r e d t h e o r y is t h a t o f m e t a p l a s i a of t h e c o e l o m i c e p i t h e l i u m . Embryologically the endometrium is derived from the lining of the miillerian duct, itself a derivative of the lining of the c o e l o m i c c a v i t y . M e y e r , i n 1919, p o s t u l a t e d t h a t as a r e s u l t o f a b n o r m a l d i f f e r e n t i a t i o n of g e r m i n a l e p i t h e l i u m i n t h e p e l v i c p e r i toneum, endometrial glands and stroma m i g h t arise. B u t t h i s t h e o r y , a l t h o u g h exp l a i n i n g a g a i n a m a j o r i t y of cases o f e n d o metriosis, would n o t expl~fin cases of
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Fro. 1. Endometrial glands in edemalous stroma with extravasated collections of blood (low power). endometrial tissue located in the nasal cavity or in the perianal region. T h e theory of lymphatic dissemination, enunciated by Halban, is even less tenable, but might be a factor in some cases. T h e last theory, that of hematogenous spread, may be the explanation for the bizarre remote sites of endometriosis such as the above-mentioned nasal cavity and perianal tissues. It may indeed be that no one of these theories is satisfactory and that a combination of factors results in the clinical condition of endometriosis. Although the histogenesis of perianal e n d o m e t r i o m a is obviously not clear, to our minds, it is best explained by the implantation theory.
Pathology Endometriosis may manifest many, varied patterns, n Because these foci of endometrium are under hormonal influence, they undergo cyclical menstrual changes with periodic bleeding. As a result, reddish-blue
to yellowish-brown implants may be found. T h e y vary from microscopic lesions to 1-2 cm in diameter. T h e y may enlarge and coalesce. Because of the irritative effect of blood, the nodules may provoke a marked fibroblastic proliferation, resulting in dense fibrous nodules. Because of periodic bleeding into the "cystic structures," the cysts have become known as "chocolate cysts." As the blood undergoes organization, involved areas may be converted to the dense fibrous scars characteristically containing a large a m o u n t of hemosiderin pigment and lipid debris. Paradoxically enough, the diagnosis may be most difficult in the advanced florid long-standing cases because, as the disease progresses, the fibroproliferative response progressively obliterates recognizable features. T h e definite histologic diagnosis usually requires two of the three following features: stroma, glands, and hemosiderin pigment, the stroma being the most important element. Microscopically the edematous endometrial stroma with an
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FIG. 2. Endometrial epithelial cell lining of glands, spindle-shaped fibroblast cells of stroma, with inflammatory cells and hemosiderin-laden macrophages (high power).
inflammatory infiltrate is often characteristic. Glands with their endometrial epithelial lining can be demonstrated together with hemosiderin-laden macrophages, which may also frequently be seen. Collections of blood are also often present (Figs. 1 and 2). Clinical F e a t u r e s Endometriosis is characteristically a disease of the reproductive years of life, occurring most frequently between 30 and 40 years of age. Of interest in these presented cases is the age group, which was somewhat lower than the usual age g-roup for patients with endometriosis. T h e clinical manifestations of endometriosis are dependent upon the functional activity of the involved tissue. In the case of perianal endometrioma, the lesion may present as meekly as an asymptomatic mass or in the classic fashion, with a painful mass, this specifically being so during menstruation. T h e mass, in fact, may become noticeable only at the time of men-
struation, when it becomes larger and more painful. It subsides several days after the termination of menses. T h e protean manifestations of this condition are readily illustrated by the above cases. In only two of these cases was the diagnosis made preoperatively, while tlle diagnoses in tile others were anal fistula, perianal endometrioma, and sebaceous cyst. On physical examination, the lesions are usually found in old episiotomy scars. This fact may stq)port the implantation theory of etiology, where the endometrial cells are implanted at tile time of episiotomy. Snch lesions inay also be found following other forms of surgical or ol)stetrical trauma. 9 T h e onset of symptoms has become apparent as early as 45 days 8 and as late as 14 years 9 from the time of delivery and perineal trauma. T h e diagnosis is essentially made on the basis of the relationship of symptoms to menstruation, the bloody nature of secretions, and the morphology of the nodules
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found. T h e differential diagnosis includes anal fistula with abscess formation, thrombosed hemorrhoids, perianal melanoma, sebaceous cyst, hidradenitis suppurativa, dermoid cysts, presacral tumors, specific inflammations such as tuberculosis or actinomycosis, trauma with resolving hemat o l n [ l , carcinoma of the rectum, anal canal, or vulva, and basal-cell or squamous-cell carcinoma of the perianal skin. T r e a t m e n t and Discussion Because this lesion is so readily accessible and because the exact nature of it is frequently not known preoperatively, the treatment of choice is undoubtedly local excision. In doing so, one should take great care not to injure the anal sphincter mechanism, as these lesions are not infrequently intimately associated with the muscle. Plastic repairs and reinforcements of the sphincter may be necessary where the lesion is excised, because the sphincter muscle may be considerably thinned in the area of the excision. Reappearance of the lesion usually represents inadequate initial removal rather than recurrence. It has been suggested by Minvielle and de la C r u # that complementary hormonal therapy might be indicated, based on the fact that endometriomas are multiple and small ones m~y not be detected at the time of operation or by follow-up studies. Such exogenous hormones may cause necrosis of the decidua and absorption of areas of endometriosis. T h e y stated that probably six months of treatment would destroy any of the imperceptible implants. However, the value of such therapy is not yet proven. Pregnancy, if desired, has been strongly encouraged in cases of pelvic endometriosis, and this has led to total amelioration of symptoms in m a n y patients. However, in cases of perianal endometrioma, pregnancy, or more specifically, delivery with episi-
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April 1976
otomy, seems to have been etiologic, since all our patients fall into this category. Estrogen therapy alone is not logical, since endometriosis exists in a milieu of hyperestrogenism. Oral progestins, advocated by Kistner? have been used effectively and are the current hormonal treatment of choice in pelvic endometriosis. 4 Disadvantages of such treatment include toxicity involving nausea, vomiting, anorexia, lleadache anti pyrexia, considerable generalized uterine enlargement, significant breast enlargement with increased vascularity, pain and tenderness, decreased libido and sterilization. Tile effects may be temporary, and tiffs treatment is ineffective for large masses of endometriosis. Androgens may dramatically affect symptoms, albeit temporarily, but they may be used to test a diagnosis for certainty. If symptoms are not relieved by androgens tlleir cause is unlikely to be endometriosis. Apart from their diagnostic value, androgens may be as effective as progestins in long-term treatment of multiple and small inaccessible lesions occurring in young women, but they carry a high virilizing risk and hence are not currently used. Testosterone may cause amelioration of symptoms without impairing ovulation and is worth a trial in young patients desiring pregnancy, but this is p r o b a b l y not applicable in cases of perianal endometrioma. In a w o m a n who is troubled with debilitating symptoms and is at the end of her childbearing years or is no longer interested in having a family, a total abdominal hysterectomy and bilateral salpingo-oophorectomy might be considered, as in the case of pelvic endometriosis. All endometrial tissue does not necessarily have to be removed in the face of endometriosis in order to relieve symptoms. So long as all the ovarian tissue is excised, the patient's condition will improve.
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I n p a t i e n t s m o r e t h a n 40 years old, the p o o r - r i s k surgical p a t i e n t , or in cases w h e r e s y m p t o m s persist or r e c u r after c o n s e r v a t i v e o p e r a t i o n , r a d i o t h e r a p y m a y effectively b e used to cause d e s t r u c t i o n of o v a r i a n function, thus a l l e v i a t i n g the s y m p t o m a t o l o g y of e n d o m e t r i o s i s . H o w e v e r , x-ray c a s t r a t i o n has been d i s c o n t i n u e d at the B o s t o n Hosp i t a l for W o m e n because of the p o s s i b i l i t y of s u b s e q u e n t c a r c i n o m a of the cervix, e n d o m e t r i u m or owtry, a n d because serious i n j u r i e s to the large a n d small bowel m a y occur as late s e q u e l a e ?
Summary O n e of the gynecologists' c o m m o n e s t findings at pelvic l a p a r o t o m y is e n d o m e t r i o s i s . D e s p i t e the fact t h a t the presence of endom e t r i a l tissue in e c t o p i c l o c a t i o n s is comm o n p l a c e , the f i n d i n g of a p e r i a n a l endom e t r i o m a is no m o r e titan a surgical curiosity. Very few cases have b e e n rep o r t e d . T h e p r e s e n t r e p o r t describes five such verified cases. I n t e r e s t i n g l y e n o u g h , only two of the five cases were d i a g n o s e d preoperatively. T h e p a t h o g e n e s i s of e n d o m e t r i o s i s has been, a n d c o n t i n u e s to be, c o n t r o v e r s i a l . T h e p r e v a i l i n g theories i n c l u d e 1) transt u b a l r e g u r g i t a t i o n of m e n s t r u a l b l o o d , 2) the c o e l o m i c m e t a p l a s i a d o c t r i n e , 3) lymp h a t i c d i s s e m i n a t i o n , a n d 4) h e m a t o g e n o u s spread. P a t h o l o g i c a l l y the lesions m a y vary grossly f r o m r e d - b l u e to y e l l o w i s h - b r o w n i m p l a n t s , r a n g i n g in size f r o m m i c r o s c o p i c to 1-2 cm in d i a m e t e r . T h e d e f i n i t i v e histologic diagnosis r e q u i r e s two of the f o l l o w i n g three f e a t u r e s - - g l a n d s , s t r o m a , and hemosiderin pigment. The clinical m a n i f e s t a t i o n s d e p e n d u p o n the f u n c t i o n a l activity of the i n v o l v e d tissue a n d m a y r a n g e f r o m an a s y m p t o m a t i c mass to the classic p r e s e n t a t i o n of a ntass i n c r e a s i n g i n size a n d b e c o m i n g acutely p a i n f u l d u r i n g
m e n s t r u a t i o n b u t s u b s i d i n g in size a n d d e c r e a s i n g in t e n d e r n e s s b e t w e e n m e n s t r u a l periods. T h e s e p r o t e a n m a n i f e s t a t i o n s are r e a d i l y i l l u s t r a t e d by the cases p r e s e n t e d . A n a t o m i c a l l y the lesions are u s u a l l y f o u n d in o l d e p i s i o t o m y scars. Because these lesions are u s u a l l y r e a d i l y accessible, a n d because t h e i r exact n a t u r e is f r e q u e n t l y n o t k n o w n p r e o p e r a t i v e l y , the t r e a t m e n t of choice is local excision. C o m p l e m e n t a r y h o r m o n a l t h e r a p y has b e e n suggested, b u t the v a l u e of such t r e a t m e n t is n o t yet proven. O w t r i a n a b l a t i v e t h e r a p y is also considered. References I. Cheleden J: Endometriosis of the perineum: Report of two cases. South Med J 61: 1313, 1968 2. Jeffcoate TN: Principles of Gynaecology. Second edition. London, Butterworth & Co, 1962, p 398 3. Kismer RW: The use of newer progestins in the treatment of endometriosis. Am J Obstet Gynecol 75: 264, 1958 4. Kismer RW: Gynecology, Principles and Practice. Second edition. Chicago, Year Book Medical Publishers, chapter 8, 1971, p 446 5. Minvielle L, de la Cruz JV: Endometriosis of the anal canal: Presentation of a case. Dis Colon Rectum 11:32, 1968 6. Novak ER, .]ones GS, Jones HW: Novak's Textbook of Gynecology. Seventh edition. Baltimore, Williams and Wilkins, 1965, p 512 7. Novak ER, Woodruff JD: Novak's Gynecologic and Obstetric Pathology'. Sixth edition. Philadelphia, W. B. Saunders, 1967, p 40 8. Paull T, Tedeschi LG: Perineal endometriosis at the site of episiotomy scar. OI)stet Gynecol 40: 28, 1972 9. Prince LN, Abrams J: Endometriosis of the perineum: Review of the literature and case report. Am J Obstet Gynecol. 73: 890, 1957 10. Ramsey Wlt: Endometrioma involving the perianal tissues: Report of a case. Dis Colon Rectum 14:366, 1971 ll. Robbius SL: Pathology. Third edition. Philadelphia, W. B. Saunders, 1967, p 1126 12. Sampson JA: Perforating hemorrhagic (chocolate) cysts of the ovary: Their importance and especially their relation to pelvic adenomas of endonletrial type ("adenomyoma" of the uterus, reetovaginal sepmm, sigmoid, etc.). Arch Surg 3: 245, 1921 13. Shickele M: Quoted by Prince I,N. Abrams .]~'
