Arch Gynecol Obstet DOI 10.1007/s00404-015-3756-4

GENERAL GYNECOLOGY

Diagnosis and treatment of perineal endometriosis: review of 17 cases Juanqing Li1 • Yifu Shi1 • Caiyun Zhou1 • Jun Lin1

Received: 15 March 2015 / Accepted: 11 May 2015 Ó Springer-Verlag Berlin Heidelberg 2015

Abstract Purpose To demonstrate the appropriate diagnosis and treatment of perineal endometriosis. Methods Seventeen patients who presented with a tender perineal mass coinciding with the menstrual cycle on the scar of a previous vaginally procedure were examined retrospectively. Their clinical features and treatment were analyzed. Results All patients presented with a palpable painful lesion. All of them had had vaginal delivery with episiotomy. The mean age of the patients was 34.35 years. The mean latent period was 46.82 months. The mean size was 2.38 cm. Thirteen patients presented with one subcutaneous nodule and four had multiple nodules. Color Doppler ultrasound revealed a subcutaneous nodule with an irregular outline and echo-complex density underlying the episiotomy scar. Only one patient suffered from perineal endometriosis combined with pelvic endometriosis. All endometriotic masses in perineum were completely excised and cured, and confirmed by the microscopic examination. Conclusions A detailed history and thorough pelvic examination are essential in diagnosing perineal endometriosis. Surgical intervention is the first choice of treatment.

Keywords Endometriosis  Perineum  Vulva  Episiotomy  Local excision

Introduction Endometriosis is one of the most common, estrogen-dependent diseases affecting 3–10 % of women of reproductive age. It is characterized by the ectopic growth of endometrial tissue outside the uterine cavity [1]. The areas of the pelvis most frequently affected are the peritoneum, the ovaries, the pouch of Douglas and the uterosacral ligament. A widely accepted theory on the pathogenesis is that endometrial tissue is transplanted outside the endometrial cavity either by retrograde menstrual flow, or lymphatic or hematogenic transport [1]. Although rare, endometriosis can affect anatomic sites outside the pelvis. Endometriosis of perineum and vulva, accounting for less than 1 % of cases of surgically treated endometriosis, has been reported in the literature with the most common site being episiotomy scars [2–5]. Similarly, seeding of endometrial tissue into wounds may be responsible for endometriosis developing in perineal scars. In this cases report, we present seventeen cases of perineal endometriosis associating with episiotomies.

Materials and methods

& Jun Lin [email protected] 1

Gynecology Department, Women’s Hospital of Zhejiang University, 1st xueshi road, Hangzhou 310006, China

There were 17 cases from January 1999 to July 2014 with perineal endometriosis who were referred and treated surgically at Women’s Hospital of Zhejiang University. The clinical presentations and the patients’ profiles were reviewed. The treatment approaches and clinical outcomes after treatment were analyzed.

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Results The incidence of perineal endometriosis was 0.17 % (17/ 9795) among the women with endometriosis treated surgically at the hospital. All patients had a history of vaginal deliveries with an episiotomy. The ages of the seventeen patients ranged from 26 to 57 years, the average being 34.35 years. All were multiparous and had a history of previous perineal trauma caused by routine episiotomy. Mean gravidity was 2.41 (range 1–6) and mean parity was 1.29 (range 1–2). The latent period was defined as the time since the last perineal surgery that had caused symptoms and the present recurrence. The mean latent period was 46.82 months (range 2 months–17 years). The mean duration of symptoms was 37.82 months (range 4–132 months). The patients were followed up for 5 months to more than 12 years with four patients lost. All of the patients complained with perineal pain related to the menstrual cycle and the perineal mass progressively increased in size. All of them had had vaginal delivery with episiotomy, 15 on the left, 1 on the right and 1 in the median. And the patients reported that the mass was tender during menstrual periods. One recurrent patient admitted to our hospital 1 year after incomplete excision in local hospital. At gynecological examination, it was seen that the subcutaneous masses were located at the episiotomy scars. On examination, the skin color over the perineal lesions was normal in 14 patients and was brownish in another 3 patients. No patient reported any ulceration or bleeding from the perineal mass. The mean size of the lesion was 2.38 cm (range 1–4 cm). In total, 13 patients presented with one subcutaneous nodule and 4 had 2–6 subcutaneous nodules. Anal sphincter muscle involvement was suspected in six patients prior to surgery, which were located along the edge of the external anal sphincter but did not involve it. Cancer antigen 125 (CA125) levels were measured in 15 patients. The mean level of CA125 was 36.9 IU/L, with eight patients in the normal range and seven patients in the abnormal range. Examination of the masses in eight patients using color Doppler ultrasound revealed a subcutaneous nodule with an irregular outline and echo-complex density underlying the episiotomy scar. Blood flow was detected in the periphery of the mass (Fig. 1). Ultrasound examination of the pelvis was performed and revealed no pelvic abnormalities except for one patient. Magnetic resonance imaging (MRI) examinations were carried on two patients revealing a multilobular mass with inner hemorrhage, suggesting vulvar endometriosis (Fig. 2). Management of the seventeen patients included surgical excision of perineal lesions. All operations were performed uneventfully and histological diagnoses were confirmed.

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Fig. 1 Color Doppler ultrasound of perineal endometriosis. It revealed a subcutaneous nodule with an irregular outline and echocomplex density underlying the episiotomy scar. Blood flow was detected in the periphery of the mass

There were no postoperative complications after surgical excision. Surgical intervention with complete excisions of the mass included a resection margin of 0.5–1.0 cm of surrounding healthy tissue. Four patients had received GnRHa treatment for three cycles postoperatively. Two patients had been treated by mifepristone for 1 month. One patient received progesterone treatment. No patient had received hormonal treatment before surgery. One of them had recurrence at the follow-up, who received laparoscopic cystectomy due to ovarian endometrioma 1 year later and received GnRHa treatment for three times. Five years later, cyclic pain occurred once more at the perineal incision and one tender mass was touched. However, the patient has not received another operation since she was afraid of recurrence. The clinical results of all patients are shown in Table 1. The postoperative courses were smooth for all patients. The mean follow-up duration after the procedure was 74.23 months (range 5–151 months). All patients except one were asymptomatic at last examination.

Discussion Endometriosis is a common disease, but the etiology and pathogenesis of endometriosis are still unclear. Perineal and vulvar lesion is very rare, which has been reported at or near the site of surgical scars in most cases. It is likely that by the mechanical transplantation of endometrial tissue during vaginal delivery, viable endometrial cells are

Arch Gynecol Obstet

Fig. 2 MRI of perineal endometriosis. It showed an irregular mass on the left episiotomy scar with hypointensity on T2WI (a) and lower hyperintensity on T1WI (b)

implanted into the episiotomy wound and subsequent cell growth occurs at the healing phase of the wound [6, 7]. During vaginal delivery, sometimes the viable endometrial cells disappear spontaneously, but sometimes they grow into endometrioma with a cyclic occurrence which causes the clinical painful symptoms. By contrast, the lymphovascular dissemination theory is considered to be the most suitable explanation of the pathogenesis of spontaneously developing perineal endometriotic lesions [8]. However, other factors, such as immunological, genetic and familial factors, could be involved in the pathogenesis of this disease. In our series, all the patients had a history of perineal procedure but none of them were known to have pre-existing endometriosis, indicating the transplantation theory. Endometriosis of the perineum and vulva presents as a normal, brown, or blue-black cystic, ill-defined papule or nodule near a surgical scar [9], accompanied by cyclic pain and swelling during menses attributable to the fact that endometrial implants behave like normal endometrium. Macroscopically, the mass is usually non-discrete and often multiloculated. In our case, all patients presented with a painful nodule. Microscopically, there were multiple endometriotic foci composed of proliferative type of endometrial glands and moderate dense stroma, surrounded by dense fibro-elastic tissue. Hemorrhage and hemosiderin deposits are important diagnostic features. Older lesions may show replacement of glands and stoma by dense fibrous tissue. Diagnosis of perineal endometriosis is usually highly suggestive from the history and examination alone.

Diagnostic clues include intermittent enlargement and tenderness of the lesion around the time of menses. Most of the patients present with a tender, palpable subcutaneous swelling near or within the surgical scar. The cyclic nature of the swelling and pain, which worsen at the time of menstruation, and a frequently reported history of gynecologic or rarely non-gynaecologic abdominal surgery, are nearly pathognomonic [10]. The differential diagnosis of such patients includes anal fistula, abscesses, atheroma, hidradenitis, anal melanoma, and so on. The tools used to aid diagnosis are controversial. The sonographic findings of such a relatively rare entity have been infrequently reported in detail. Some reports have described hypoechoic masses with scattered internal echoes [11], which is accordant with our cases. Sagittal and transversal scan showed a roundish lesion, with irregular contour in subcutaneous adipose tissue. However, such sonographic findings are non-specific. There are some case reports showing that the high-frequency power Doppler angiographic appearance is useful to diagnose the scar endometriosis [12]. The level of serum CA125 does not seem to be effective in diagnosis of perineal endometriosis since it is usually normal or increased slightly. In the present study, there are four patients receiving hormonal suppression after surgery. It seems that the drug therapy after surgery was not effective because one of them had recurrence. However, we could try other drugs such as oral contraceptives or dienogest to control or postpone the recurrence of perineal endometriosis [13, 14].

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Arch Gynecol Obstet Table 1 The clinical features and management of perineal endometriosis Patient

Age (years)

Parity

Gravidity

Latent period (months)

1

33

1

2

36

2

29

1

6

3

35

2

4

28

5 6

Duration of symptoms (months)

Location of lesion

Size in diameter (cm)

CA125 (IU/L)

Follow-up (months)

60

Left episiotomy

1

Not detected

151

36

48

Left episiotomy

2

Not detected

Lost

3

44

4

Right episiotomy

3

17.3

Lost

1

2

48

46

Left episiotomy

1

25.9

120

37

1

1

3

132

Left episiotomy

1.5

17.5

119

57

2

3

60

8

Left episiotomy

5

8.8

107

7

29

1

1

3

45

Left episiotomy

1.5

30.6

102

8

28

1

1

2

24

Left episiotomy

2

60.2

100

9

29

2

3

42

18

Median episiotomy

1.5

35.8

90

10

46

2

4

36

108

Left episiotomy

1

19

87

11

26

1

2

4

36

Left episiotomy

2

27.6

Lost

12

33

1

1

48

36

Left episiotomy

4

53.7

52

13

34

1

2

96

24

Left episiotomy

2

32.9

Lost

14

34

1

4

92

16

Left episiotomy

3

48.5

12

15

31

1

1

12

26

Left episiotomy

2

62

14

16

32

2

2

30

6

Left episiotomy

4

61.6

6

17

43

1

3

204

6

Left episiotomy

4

52.3

5

There is potential for the malignant degeneration of any endometriosis lesion, which occurs extremely rare for cutaneous endometriosis with malignant degeneration representing 0.3–1 % of endometriosis surgical scars [15]. It is difficult to distinguish benign and malignant endometriosis of perineal endometriosis from symptoms and signs. Biopsy is necessary to confirm the diagnosis of malignant transformation. Finally, we conclude that the principle of management includes adequate, wide excision to prevent recurrence. Care must be exercised not to rupture the mass during surgery to avoid re-implantation or not to leave any remnants. During surgery, the surrounding fibrous tissue should be excised to ensure that no residual endometriosis is left. Anyway, some diagnostic methods, including ultrasonography, magnetic resonance imaging should proceed to the surgical approach. Conflict of interest All authors declare no conflict of interests and funding in the manuscript, including financial, consultant, institutional and other relationships that might lead to bias. Ethical standards or patient data.

The manuscript does not contain clinical studies

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Diagnosis and treatment of perineal endometriosis: review of 17 cases.

To demonstrate the appropriate diagnosis and treatment of perineal endometriosis...
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