{"paper_id":"6557cc92-f07d-46c8-9412-843be30cd982","body_text":"C A S E R E P O R T Open Access\nUmbilical endometriosis: a case series\nDorothy Makena * , Timona Obura, Steve Mutiso and Felix Oindi\nAbstract\nBackground: Endometriosis is the presence of endometrial tissue outside the uterine cavity. The lesions are\ntypically found in the pelvic cavity but can occur in other extrapelvic areas. Umbilical endometriosis, also known as\nVillar’s node, is a rare disease comprising 0.5 –1% of all extrapelvic disease. It commonly presents with cyclical pain\nand bleeding from an umbilical nodule.\nCase series: We present a retrospective case series of five African patients with umbilical endometriosis diagnosed\nand treated between July 2015 and February 2019 at a tertiary health facility. The patients were aged between 31\nand 47 years, and all presented with an umbilical swelling and pain. They had lesions with diameters ranging from\n1.6 cm to 4 cm. The duration of symptoms ranged between 3 and 60 months. Their diagnoses were made on the\nbasis of clinical presentation followed by surgical excision. In all the cases, diagnosis was confirmed by\nhistopathology with no malignancy detected.\nConclusion: Umbilical endometriosis is a rare condition that should be considered as a differential diagnosis in\nwomen with umbilical lesions. Diagnosis is mostly clinical; most patients present with umbilical swelling, cyclical\npain, and bleeding or discharge. Imaging has a limited role. Surgical excision is the treatment of choice with low\nrisk of malignancy or recurrence.\nKeywords: Umbilical endometriosis, Umbilical swelling, Cyclical pain, Surgical excision\nBackground\nEndometriosis is the presence of endometrial tissue out-\nside the uterine cavity. It is a benign condition affecting\n10–15% of women [ 1]. It classically affects women of re-\nproductive age. The lesions occur mostly on pelvic sites\ninvolving the ovaries, uterosacral ligaments, ovarian\nfossa, cul-de-sac, and bladder in that order [ 2]. Extrapel-\nvic endometriosis occurs less commonly. The extrapelvic\nsites include the diaphragm, pulmonary, urinary tract,\ngastrointestinal tract, brain, and cutaneous endometri-\nosis. Umbilical endometriosis is rare, and it comprises\n0.5–1% of all extrapelvic disease. Although rare, umbil-\nical endometriosis is the commonest type of cutaneous\nendometriosis [ 3].\nUmbilical endometriosis can be categorized as primary\nwhen it occurs spontaneously or secondary when it\noccurs following laparoscopic or open procedures, the\nlatter being more common [ 4]. Primary umbilical endo-\nmetriosis was first described by Villar in 1886; therefore,\nit is also known as Villar ’s nodule [ 5]. The pathogenesis\nof endometriosis is not well understood. Postulated the-\nories include Sampson ’s theory of retrograde menstru-\nation, which is the commonest, coelomic metaplasia,\ninduction theory, embryonic Mullerian rests, bone mar-\nrow stem cell theory, and hematogenous/lymphatic\nspread. The theory favored in the case of umbilical\nendometriosis is hematogenous/lymphatic spread where\nthere is coexisting pelvic endometriosis. Isolated umbil-\nical endometriosis could develop from metaplasia of ura-\nchal remnants [ 6]. The aim of this study was to evaluate\nthe clinical characteristics, presentation, diagnosis, and\nmanagement of umbilical endometriosis in view of the\nliterature.\n© The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License,\nwhich permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give\nappropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if\nchanges were made. The images or other third party material in this article are included in the article's Creative Commons\nlicence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons\nlicence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain\npermission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.\nThe Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the\ndata made available in this article, unless otherwise stated in a credit line to the data.\n* Correspondence: dorothy.makena@aku.edu\nDepartment of Obstetrics and Gynecology, Aga Khan University Hospital\nNairobi, P.O. Box, Nairobi 30270-00100, Kenya\nMakena et al. Journal of Medical Case Reports          (2020) 14:142 \nhttps://doi.org/10.1186/s13256-020-02492-9\n\nCase series\nThis is a retrospective, single-center, consecutive case\nseries of African patients managed in a private tertiary\nhealth facility in Nairobi, Kenya. We reviewed five cases\nof patients with histology-confirmed umbilical endomet-\nriosis who were managed at Aga Khan University Hos-\npital, Nairobi, between July 2015 and February 2019.\nThe patients were reviewed in the gynecology clinic,\nwhere they presented with an umbilical swelling with\ncyclical pain and bleeding/discharge. A clinical evalu-\nation based on history and physical examination was\ndone, followed by surgical excision of the lesion. The\nspecimen was taken for histological diagnosis, which\nconfirmed umbilical endometriosis in all the cases. The\ndiagnosis was made when there was identification of\nendometrial glands and stroma, areas of focal\nhemorrhage or chronic inflammation, and presence of\nmacrophages with hemosiderin pigments.\nWe analyzed age, parity, duration of symptoms, chief\npresentation, associated symptoms, size of the lesion,\nmanagement, and histopathological diagnosis of the five\npatients included (Table 1). All the patients authorized\ninformed consent in the medical records at admission.\nThe clinical features and treatment details of the pa-\ntients are summarized in Table 1. The mean age of the\npatients was 40 years, with a range from 31 to 46 years.\nTwo of the patients were nulliparous, and the other\nthree had previous deliveries ranging from one to six de-\nliveries. None had a miscarriage. One of the patients had\ntwo previous cesarean deliveries, whereas the others had\nvaginal deliveries. No other previous abdominal surgeries\nwere reported among the patients.\nThe mean duration of symptoms prior to presentation\nwas 21.4 months, with a range from 3 to 60 months. The\npreoperative diagnosis was clinical in all the cases\n(100%). The presentation was similar, with all having an\numbilical swelling (100%), cyclical pain and bleeding in\nfour of five (80%), with one having umbilical discharge\ninstead of bleeding. Three of the patients reported asso-\nciated symptoms of severe dysmenorrhea (60%), with\none having heavy menses, too. One patient was being\nseen in follow-up for subfertility with bilateral tubal\nblockage.\nThe largest dimension of the umbilical lesion (Fig. 1)\nranged from 1.6 to 4 cm (mean 3.02 cm). One patient\nhad preoperative imaging with magnetic resonance im-\naging (MRI), which revealed a 1.6-cm umbilical lesion\nsuggestive of umbilical endometriosis with normal pelvic\nfindings. Another patient had a preoperative pelvic ultra-\nsound that revealed multiple intramural fibroids, the lar-\ngest about 3 cm, with a right ovarian simple cyst about\n3 cm. The other three patients did not have any imaging.\nAll patients had surgical excision of the lesion (Fig. 2)\nperformed by a consultant gynecologist with a 1-cm\nsafety margin up to the rectus fascia with closure of the\numbilical defect. Three patients had additional surgery.\nOne had laparoscopy and hysteroscopy due to dysmen-\norrhea, which were normal. Another patient with subfer-\ntility, dysmenorrhea, and heavy menstrual bleeding had\nlaparoscopy, where pelvic endometriosis was found with\nlesions on the uterosacral ligaments, right ovarian fossa,\nand posterior uterine wall, which were ablated. This pa-\ntient also had a total laparoscopic hysterectomy. The last\npatient had laparoscopy with ablation and excision of\nsuperficial endometriosis deposits on the anterior and\nposterior cul-de-sac.\nHistopathological examination was undertaken in all\nthe specimens excised, and endometriosis was confirmed\nby identification of endometrial glands and/or stroma\nand recent hemorrhage in the dermis with no malig-\nnancy. All patients had uneventful postoperative recov-\neries with no recurrence in follow-up.\nTable 1 Clinical features and treatment\nPatient Age (years) Parity Duration of\nsymptoms\n(months)\nChief presentation Associated\nsymptoms\nSize of lesion\nin largest\ndimension (cm)\nImaging Management Histology\n1 33 0 + 0 8 Umbilical swelling,\ncyclic discharge\nNo dysmenorrhea,\nnormal flow\n1.6 MRI Excision Confirmed\n2 46 6 + 0 24 Umbilical swelling,\ncyclical pain, and\nbleeding\n– 4 – Excision Confirmed\n3 47 1 + 0 60 Umbilical swelling,\ncyclical pain, and\nbleeding\nDysmenorrhea,\nheavy menses\n3.5 US Excision Confirmed\n4 31 0 + 0 12 Umbilical swelling,\ncyclical pain, and\nbleeding\nDysmenorrhea,\nnormal flow\n3 – Excision Confirmed\n5 43 2 + 0 3 Umbilical swelling,\ncyclical pain, and\nbleeding\nSevere dysmenorrhea,\nnormal flow\n3 – Excision Confirmed\nMRI Magnetic resonance imaging, US Ultrasound\nMakena et al. Journal of Medical Case Reports          (2020) 14:142 Page 2 of 4\n\nDiscussion and conclusions\nThe average age of the five patients was 40 years,\nwhereas that reported in the literature is 37.7 ± 0.98\nyears [ 4]. This indicates that endometriosis is an\nestrogen-dependent condition affecting premenopausal\nwomen of reproductive age [ 7]. The mean duration of\nthe symptoms was 21.4 years, which is consistent with\nthat in the literature of 17.8 ± 3.9 months [ 4]. Umbilical\nendometriosis can be primary if it occurs spontaneously\nor secondary following previous surgery, especially lap-\naroscopic procedures with umbilical port entry. None of\nthe five patients had a prior laparoscopic surgery; how-\never, one had two prior cesarean sections. Secondary\numbilical endometriosis can occur following cesarean\nsections in 1% of cases [ 8].\nThe diagnosis is often made on the basis of clinical\npresentation, which was consistent with that reported in\nthe literature. Most patients present with umbilical\nswelling with cyclical pain and bleeding. According to\nVictory et al. [4], umbilical swelling was present in al-\nmost 90% of cases with less than 50% having bleeding\nand about 80% having pain. Pain is caused by tissue in-\nflammation, distention, and cyclical changes. The mean\nsize of the lesion is about 2.29 cm, with color changes\nranging from brown to blue, purple, black, and normal\nin decreasing order [ 4]. In our study, however, the color\nof the lesions was not reported. Discoloration occurs as\na result of bleeding into the lesion with hemosiderin de-\nposition, which can be seen at histopathological\nexamination.\nAlthough preliminary diagnosis is made on the basis\nof history and physical examination, imaging may aid in\npreoperative evaluation. Ultrasound can be used to as-\nsess the nodule size and involvement of surrounding tis-\nsues and to evaluate other pelvic pathology, hence aiding\nthe planning of surgical management [ 9]. One of the pa-\ntients had a pelvic ultrasound. In this patient, the ultra-\nsound features of umbilical endometriosis, which\ninclude isoechoic region with hyperechoic foci with or\nwithout abundant blood supply on Doppler [ 9], were not\nseen. However, other pelvic pathology, including intra-\nmural fibroids and ovarian cyst, were discovered. MRI\ncan also be used as a method of preoperative evaluation\nin suspected endometriosis. It aids in evaluating pelvic\nendometriosis as well as to rule out other sinister differ-\nentials, including malignancy, Sister Mary Joseph nodule,\nand granuloma, among others. MRI features of an um-\nbilical endometriosis includes a homogeneous hypoin-\ntense lesion on T1-weighted sequence with low signals\non T2 weighting [ 10, 11]. One of the patients in this\nstudy had an MRI scan with features of umbilical\nendometriosis.\nUp to 25% of umbilical endometriosis occurs with\nconcurrent pelvic endometriosis. Two patients had coex-\nisting pelvic endometriosis treated at laparoscopy. Sub-\nfertility is a common condition among patients with\nendometriosis, occurring in up to 50% of women with\nendometriosis [ 1]. This phenomenon was reported in\none patient in this study who was seen in follow-up for\nsubfertility with bilateral tubal blockage.\nThe umbilicus is a physiological scar that is a preferred\nsite for umbilical endometriosis, as described by Yu\net al. [11] Lymphatic and hematogenous spread to the\numbilicus and direct extension of endometrial cells\nthrough round ligaments or omphalomesenteric rem-\nnants are possible theories to explain the etiology of um-\nbilical endometriosis [ 6, 12].\nSurgical management is the treatment of choice [ 5, 12,\n13]. Hormone therapy can be used preoperatively for\nFig. 1 Hyperpigmented umbilical nodule\nFig. 2 Surgical excision of umbilical endometriosis\nMakena et al. Journal of Medical Case Reports          (2020) 14:142 Page 3 of 4\n\nrelief of symptoms, but it is not curative. It can also be\nused to reduce the size of large lesions prior to surgery.\nHowever, it is associated with side effects such as amen-\norrhea [ 13]. Surgical excision was the treatment admin-\nistered to the patients in this study. These lesions have a\nlow risk of malignancy and recurrence [ 4, 14]. Diagnosis\nis confirmed by histopathological examination.\nUmbilical endometriosis is a rare entity, especially\nwhen it occurs spontaneously. The clinical presentation\nof umbilical swelling, cyclical pain, and sometimes bleed-\ning from the lesion are highly suggestive of this condi-\ntion. The treatment of choice is surgical excision, and\ndiagnosis is confirmed by histopathological examination.\nAbbreviation\nMRI: Magnetic resonance imaging\nAuthors’ contributions\nDM was responsible for drafting the article and for analysis and\ninterpretation of the data. TO was involved in the management of the\npatients and discussed the cases. SM was involved in data acquisition and\nanalysis and interpretation of the data. FO was involved in data acquisition\nand manuscript editing. All authors were involved in management and\nfollow-up of the patients and revising the manuscript critically for important\nintellectual content. All authors read and approved the final manuscript.\nFunding\nNone.\nAvailability of data and materials\nClinical data and complementary examinations are available from the\ncorresponding author on reasonable request.\nEthics approval and consent to participate\nFor this case series, no ethical approval was sought. Informed consent was\nobtained from the patients, and their identity was concealed.\nConsent for publication\nWritten informed consent was obtained from the patients for publication of\nthe cases and any accompanying images. Copies of the consent are\navailable for review by the Editor-in-Chief of this journal.\nCompeting interests\nThe authors declare no conflict of interest.\nReceived: 25 May 2020 Accepted: 7 August 2020\nReferences\n1. Eskenazi B, Warner ML. Epidemiology of endometriosis. Obstet Gynecol Clin\nNorth Am. 1997;24(2):235 –58.\n2. Audebert A, Petousis S, Margioula-Siarkou C, Ravanos K, Prapas N, Prapas Y.\nAnatomic distribution of endometriosis: a reappraisal based on series of\n1101 patients. Eur J Obstet Gynecol Reprod Biol. 2018;230:36 –40.\n3. Kodandapani S, Pai MV, Mathew M. Umbilical laparoscopic scar\nendometriosis. J Hum Reprod Sci. 2011;4(3):150 –2.\n4. Victory R, Diamond MP, Johns DA. Villar ’s nodule: a case report and\nsystematic literature review of endometriosis externa of the umbilicus. J\nMinim Invasive Gynecol. 2007;14(1):23 –32.\n5. Boesgaard-Kjer D, Boesgaard-Kjer D, Kjer JJ. Primary umbilical endometriosis\n(PUE). Eur J Obstet Gynecol Reprod Biol. 2017;209:44 –5.\n6. 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A case report of Villar ’s nodule in a woman without surgical history.\nInt J Surg Case Rep. 2018;53:186 –8.\n13. Purvis RS, Tyring SK. Cutaneous and subcutaneous endometriosis: surgical\nand hormonal therapy. J Dermatol Surg Oncol. 1994;20(10):693 –5.\n14. Obata K, Ikoma N, Oomura G, Inoue Y. Clear cell adenocarcinoma arising\nfrom umbilical endometriosis. J Obstet Gynaecol Res. 2013;39(1):455 –61.\nPublisher’sN o t e\nSpringer Nature remains neutral with regard to jurisdictional claims in\npublished maps and institutional affiliations.\nMakena et al. Journal of Medical Case Reports          (2020) 14:142 Page 4 of 4","source_license":"CC0","license_restricted":false}