Diagnosis and Treatment of Vulvo-Perineal Endometriosis: A Systematic Review

Abstract

Objective: To describe the available knowledge on vulvo-perineal endometriosis including its diagnosis, clinical management and recurrence rate.Methods: We followed the PRISMA guidelines for Systematic Reviews and our study was prospectively registered with PROSPERO (CRD42020202441). The terms “Endometriosis” and “Perineum” or “Vulva” were used as keywords. Cochrane Library, Medline/Pubmed, Embase and Clinicaltrials.gov were searched. Papers in English, Spanish, Portuguese, French or Italian from inception to July 30, 2020 were considered. Reference lists of included articles and other literature source such as Google Scholar were also manually scrutinized in order to identify other relevant studies. Two independent reviewers screened potentially eligible studies according to inclusion criteria.Results: Out of 539 reports, 90 studies were eligible including a total of 283 patients. Their mean age was 32.7 ± 7.6 years. Two hundred sixty-three (95.3%) presenting with vulvo-perineal endometriosis have undergone either episiotomy, perineal trauma or vaginal injury or surgery. Only 13 patients (4.7%) developed vulvo-vaginal endometriosis spontaneously i.e., without any apparent condition favoring it. The reasons that motivated the patients to take medical advice were vulvo-perineal cyclical pain increasing during menstruations (98.2% of the patients, n = 278). Out of the 281 patients for whom a clinical examination was described, 274 patients (97.5%) showed a vulvo-perineal nodule, mass or swelling while six presented with bluish cutaneous lesions (2.1%) and 1 with bilateral polyps of the labia minora (0.4%). All but one patients underwent surgical excision of their lesions but only 88 patients (28.1%) received additional hormonal therapy. The recurrence rate was 10.2% (29 patients) considering a median follow-up period of 10 months (based on 61 studies).Conclusion: In conclusion, vulvo-perineal endometriosis is a rare entity with approximately 300 cases reported in the literature since 1923. With the available knowledge shown in this systematic review, we encourage all practitioners to think about perineal endometriosis in case of perineal cyclical pain with or without previous perineal damage. Diagnosis should be done with clinical exam, perineal ultrasound and pelvic MRI when available. In case of anal sphincter involvement, perianal ultrasound should be performed. Surgical excision of the lesion should be realized in order to remove the lesion and to confirm the diagnosis histologically. Hormonal treatment could be proposed to attempt to decrease the size of a large lesion before surgery or to avoid recurrence of the lesion. As evidence-based approach to the diagnosis, treatment and recurrence rate of affected patients remains a challenge given its low prevalence, the variations in management found in the articles included and the limited quality of available studies, we suggest that a prospective database on vulvo-perineal endometriosis should be generated to increase knowledge but also awareness among healthcare professionals and optimize patients' care.Systematic Review Registration:https://www.crd.york.ac.uk/prospero/, identifier: CRD42020202441.

Clinical presentation of perineal endometriosis and prognostic nomogram after surgical resection

“…Iatrogenic implantation of endometrial tissue into the open wound at perineum has been proposed as the predominant theory in relation to the genesis of PEM [ 11 ]. A recent systemic review incorporating 90 studies found that 95.3% of 283 patients with vulvo-perineal endometriosis had gone through perineal trauma before the onset of symptoms [ 5 ]. The results of our survey further corroborate the hypothesis of iatrogenic seeding through wound contact with viable endometrial cells.…”

“…Perineal endometriosis (PEM) is a rare type that accounts for merely 0.17% to 0.37% of women treated for endometriosis [ 3 , 4 ]. Characterised by the ectopic endometrial tissue located in the subcutaneous adipose layer of perineum, PEM is predominantly associated with injuries caused by episiotomy or obstetrical tears [ 5 – 7 ]. Patients with PEM typically show solid tender nodule or mass with cyclic pain around the perineal scar [ 6 ].…”

“…Patients with PEM typically show solid tender nodule or mass with cyclic pain around the perineal scar [ 6 ]. Moreover, the infiltrative growth of lesions may lead to an increased risk of involvement with adjacent structures such as anal sphincter, vaginal wall, or rectum [ 4 , 5 ].…”

“…Diagnosis and treatment for PEM can still be very difficult currently, mostly due to its high rarity and consequently low awareness among clinicians. A systematic review suggests that there have been only around three hundreds PEM cases documented since 1923 all over the world [ 5 ]. Over the centenary, progress has been made in the knowledge about PEM, while timely diagnosis and treatment can still be restricted because most patients complaining of perianal pain are primarily treated by non-gynaecological clinicians.…”

A unique case of isolated vulvar endometriosis

“…Very few cases have been reported in the literature, and in most of these case reports either concomitant pelvic disease is present or it is undetermined whether more extensive disease is present as laparoscopy was not performed [3][4][5][6]. In one systematic review, it was noted that 95.3% of patients presenting with vulvo-perineal endometriosis have undergone either episiotomy, perineal trauma, vaginal injury, or vaginal surgery [7]. In most cases, patients presented with cyclical vulvar pain, and were initially thought to have a Bartholin gland cyst.…”