IP Journal of Diagnostic Pathology and Oncology 2021;6(3):226–230

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IP Journal of Diagnostic Pathology and Oncology

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Case Report

Primary umbilical endometriosis – A rare presentation of cutaneous endometriosis

Girija C

1,*, Muhammed Aslam K K2

1Dept. of Pathology, DM WIMS Medical College, Wayanad, Kerala, India2NHM Doctor, Wayanad, Kerala, India

A R T I C L E I N F O

Article history:Received 31-05-2021Accepted 06-07-2021Available online 13-09-2021

Keywords:Umbilical endometriosisCutaneous endometriosisEndometriosis

A B S T R A C T

Primary umbilical endometriosis is a rare condition with an overall incidence of around 0.5% to 1% amongall the endometriosis cases, but at times it poses a diagnostic dilemma. In our institution we encountereda case of primary umbilical endometriosis presented to multiple surgical speciality departments. A promptclinical examination with surgical biopsy was the key tool which lead to the diagnosis and providinga complete cure for the patient. Pelvic endometriosis affects 5-10% of women in the child bearing agegroup. The most pronounced symptoms are dyspareunia, pelvic pain, and infertility. Clinical presentationsof umbilical endometriosis are as a nodule with or without associated umbilical pain and bleeding. Thispatient was given primary hormonal therapy and later underwent a biopsy which paved way for an accuratediagnosis of primary umbilical endometriosis. In this case of umbilical swelling, conditions like a benignnevus, lipoma, abscess, cyst, hernia, as well as metastatic deposit from a systemic malignancy wereconsidered in the clinical differential diagnosis. However surgical excision helped us arrive at a definitivediagnosis and cure for the patient.

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1. Introduction

Endometriosis is a frequent pathology seen in 5-10% ofwomen in childbearing ageand commonly involves thelower pelvis. It is also known as Villar’s Nodule named afterthe person who first described it, Villar in the year 1886.Endometriosis is defined as the presence of endometrialglands and stroma outside the uterus and the cause ofwhich is poorly explained. Various studies and researchershas proposed the possible cause as ectopic implantation ofendometrial tissue following retrograde menstruation as thecause of this condition.1 The prevalence of endometriosis isestimated to range between 4% in asymptomatic women and50% in women with dysmenorrhea.2 A review of literaturealso suggests that the prevalence of endometriosis increaseswith age.3,4

* Corresponding author.E-mail address: giriparvathy@gmail.com (Girija C).

Common locations of endometriosis are the pelvicorgans, mostly ovaries, uterosacral ligaments, rectumand the bladder. However cutaneous endometriosis is arare entity of which the incidence of primary umbilicalendometriosis is about 0.5-1% among all the women withextra gonadal endometriosis.5 A scar endometriosis canoccur in a sub-umbilical incision scar commonly due toa cesarean section and primary umbilical endometriosishas to be differentiated from this entity.6 According tothe literature, a total of only 109 cases of umbilicalendometriosis has been reported.7 The presentation ofendometriosis to the general surgeons is rare, and withatypical symptoms, it poses diagnostic difficulties.8 Theumbilicus is one of the less common sites for thelocalization of the ectopic endometrial tissue. Varioustheories with regards to the pathogenesis of endometriosishave been suggested, none of which can unequivocally

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account for the endometriosis in all the various locations inwhich it has been reported.

2. Case Report

A 37 year old multiparous women, presented to OBGOPD with complaints of pain and bleeding from umbilicusduring her menstruation. She gives history of noticing anodule over the umbilicus associated with pain duringher menstrual cycle, without any associated bleeding fromthe site, for the past 6 years,. She had consulted at anoutside hospital in the year 2016 for the same. Afterroutine investigations, she underwent a biopsy evaluationof the umbilical nodule on 27/4/2016. A diagnosis ofEndometriotic nodule was suggested. Two years afterthe biopsy, she started to notice bleeding from theumbilicus during menstruation associated with pain. Shethen consulted at the OBG department of our hospital,in august 2018. On physical examination there was adark discolouration and tenderness over umbilicus at thetime of presentation. She was given a single dose ofMedroxyprogesterone 150mg injection and was adviced arepeat the same after two weeks. Later, after two months,she again presented with complaints of pain and bleedingthrough the umbilicus and presented to the Surgery OPD.Her medical history was unremarkable. She did not giveany history of symptoms of pelvic endometriosis such asdysmenorrhea, abdominal pain or dyspareunia. Her LMP(last menstrual period) was on 25/07/2018. She was not onany other oral contraceptives except for the two dose ofMedroxyprogesterone which was given two months prior.She was investigated as per the routine. USG abdomenrevealed a normal study except for a seedling fibroid inthe fundus of uterus. A provisional diagnosis of Primaryumbilical endometriosis was made and she was posted forsurgical excision of the umbilical nodule. There was nohistory of Diabetes mellitus, Hypertension, Tuberculosis,Bronchial asthma or Thyroid disorders for her. No historyof any drug intake or drug allergies in the past.

She was evaluated in the surgery department. Physicalexamination revealed a single swelling of size 2 x 1 cmarising from the umbilicus. Surgical removal of the nodulewas done. Post- operative period was uneventful.

2.1. Pathology evaluation

In the department of Pathology, we received the sample ofexcised umbilical nodule. Grossly it was a skin attachedsoft tissue fragment measuring 4x3.5x2cm. A raised greybrown area was noted on the surface of skin measuringabout 1.5cm in diameter. Cross section of the specimenrevealed grey brown areas with tiny hemorrhagic spots.[Figures 1 and 2] Histopathological evaluation showedintact epidermis. The dermis showed multiple cysticallydilated glands with endometrial type of columnar cell

lining. The glands had amphophilic secretions in its lumenand hemosiderin laden macrophages admixed amongst theepithelial cells. The stroma surrounding the glands wereexhibiting decidualisation and myxoid changes. Scatteredinflammatory cell infiltrates were also noted in the stroma.A histopathological diagnosis of Cutaneous Endometriosiswas made. [Figures 3 and 4]

Fig. 1: Cross section of Umbilical nodule showing tinyhemorrhagic spots.

Fig. 2: Skin with underlying endometriotic glands and stroma

3. Discussion

Pelvic endometriosis may present with symptomslike dyspareunia, pelvic pain, and infertility.9 Theother symptoms may include diarrhea, constipationand abdominal bloating particularly during menstrual

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Fig. 3: Dilated endometrial glands with luminal secretions.

Fig. 4: Endometrial glands lined by cuboidal cells and surroundingstroma.

Fig. 5: Stromal decidualisation around glands.

period, heavy or irregular bleeding and fatigue.10 Theclinical presentations of umbilical endometriosis can beas pigmented nodule or umbilical weeping, especiallycyclical bleeding and cyclical pain.11 In our case thepatient was having cyclical pain in the umbilicus duringmenstruation but without any bleeding manifestations fromthe umbilicus for many years. A surgical interventionwas done from umbilical nodule for biopsy evaluation,following which she developed bleeding from that siteduring her menstruation. No other cause could be attributedto the bleeding manifestation as she had not underwentany other surgeries in the past and both her childrenwere born out of normal vaginal delivery. In this casethe stroma surrounding the glands showed changes ofdecidualisation. This may be attributed to hormonal therapywhich she received before the surgical resection. A Primaryumbilical endometriosis is a rare occurrence but whileconsidering umbilical disorders in women with no typicalsymptoms of pelvic endometriosis, it should come in thedifferential diagnosis. The umbilicus is a preferred spotfor cutaneous endometriosis; however, only 4 cases ofprimary umbilical endometriosis surgically confirmed notto have endometriotic lesions in the abdominal cavityhave been reported in previous literature.12–14 As in ourcase the ultrasound evaluation of abdomen and pelvisdid not reveal any lesions suggesting adenomyosis ofuterus or endometriosis in the gonads and fallopian tubes.

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With regard to this information our case of primaryumbilical endometriosis without any other foci in pelvisor uterus, stands out as a rare entity. The theory oflymphatic or hematogenous spread is favored with primaryumbilical endometriosis, although the etiology of umbilicalendometriosis is not completely understood.

Most of the endometrial deposits are found in thepelvic region, ovaries, fallopian tubes, cervix, pelvicperitoneum, uterosacral ligaments, pouch of Douglas andthe rectovaginal septum. There may be rare occurrencein extragonadal and extra pelvic locations. These includemost of the body cavities, as well as organs like lung,gallbladder, intestine, kidney, brain, extremities, perineum,and abdominal wall. Extra pelvic endometriosis may occurin up to 12 % of the women with endometriosis. Thereare medical and surgical treatment modalities in umbilicalendometriosis. In treating pelvic pain, both medical andsurgical treatments are effective.15 Pre- operative hormonetherapy may be used in patients with large mass ofumbilical endometriosis, to reduce the size.16 In our casethe patient was given hormonal therapy with parenteralmedroxyprogesterone injections, followed by a surgicalexcision. A post excision defect of umbilicus can mostlybe repaired directly by using a skin flap, without muchdisfigurement.17 Hormonal therapy may be consideredwhen there is a coexistent pelvic endometriosis.18 The riskof malignant transformation from umbilical endometriosisis very low. Some rare cases had undergone malignanttransformation into endometrial carcinomas. The possibilityof a coexisting genital-pelvic endometriosis must beinvestigated for.

The development of umbilical endometriomas canoccur following laparoscopic surgical procedures involvingumbilicus. Several theories have been proposed with regardto the pathogenesis of cutaneous/umbilical endometriosis,with coelomic metaplasia being the most favoured one.Also the umbilicus may act as a physiological scarwhere the remnants of endometrial tissue may be seenwhich can pave way for the development of spontaneousumbilical endometriosis. In certain scenarios like malignantmelanoma presenting as an umbilical nodule or a “sisterMary Joseph nodule”— which may be an umbilicalmanifestation of an intra-abdominal malignancy there canarise a diagnostic dilemma. In case of an umbilicalswelling, conditions like a benign nevus, lipoma, abscess,cyst, or hernia, as well as metastatic deposit from asystemic malignancy, should be considered in the clinicaldifferential diagnosis. However a biopsy with a thoroughhistopathological examination will be helpful in arriving ata definitive diagnosis in such situations.

4. Conclusion

Primary umbilical endometriosis is a rare conditionwith an overall incidence of around 0.5% to 1%

among all the endometriosis cases, but at times itposes a diagnostic dilemma. Hence, a histopathologicalexamination is necessary for confirmation of diagnosis.Treatment modalities include hormonal therapy and surgicalexcision. A preoperative hormone therapy may help inreducing the size of the umbilical lesion but may not providea cure for the condition. However the treatment of choice isalways a complete surgical resection having an extremelylow recurrence rate.

5. Conflict of Interest

There is no potential conflict of interests related to theexclusive nature of this paper.

6. Source of Funding

No financial support was received for the work on thismanuscript.

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Author biography

Girija C, Associate Professor

https://orcid.org/0000-0001-8695-9295

Muhammed Aslam K K, NHM Medical Officer

Cite this article: Girija C, Aslam K K M. Primary umbilicalendometriosis – A rare presentation of cutaneous endometriosis. IP JDiagn Pathol Oncol 2021;6(3):226-230.