Recurrence of primary umbilical endometriosis: \ncase report and review of the literature

Endometriosis is defined as the presence of endometrial tissue, with its typical stromal and glandular components, at anatomical sites other than the uterine cavity. The ovaries are most commonly involved, followed by the uterine ligaments, pelvic wall, intestine, bladder and skin. Cutaneous endometriosis of the umbilical scar, also known as Villar’s nodule, is rare, especially if there is no history of abdominal or pelvic surgery or concomi- tant endometriosis at other sites. Villar’s nodule, which accounts for up to 5% of cases of cu- taneous endometriosis, can occur as a primary lesion re- sulting from spontaneous metastatic implantation, or as secondary endometriosis, i.e. following a iatrogenic dis- placement of endometrial tissue during surgical procedures such as umbilical or inguinal hernia repair or any laparo- scopic surgery performed using an umbilical access (2,3). On physical examination, the lesion appears as a solid nodule varying in color from red to blue or brown-black, depending on the amount of hemorrhage and the depth of penetration of the ectopic endometrial tissue (1). A case of recurrent primary cutaneous endometriosis of the umbilical scar is here reported. Case report In February 2013, a 33-year-old nulligravida black African woman referred herself to the Gynecological Surgery Unit at the “Ss Annunziata” Hospital in Chieti (Italy) with a ten- der and discolored nodule of the umbilical skin. Charac- teristically, the lesion showed cyclic hematic discharge associated with evident changes in size and color con- comitantly with the menstrual period. Subjective pain was described by the patient as constant and not related to any particular activity, but markedly in- creased by the onset of the menstrual period. Her past history included surgical excision of a lesion with identical clinical, anatomical and histopathological fea- tures, performed in 2006. The nodule was excised with free margins and pathology examination confirmed the le- sion nature as cutaneous endometriosis. The patient’s his- tory was negative for any other surgery on the umbilical skin, including cosmetic procedures such as piercings, and she reported no previous pelvic or abdominal surgery. Her history was also negative for significant medical prob- lems, with the exception of dysmenorrhea, and her family history was negative for significant related pathology. The patient’s body mass index, blood cell count, liver function test and renal function test were all in the nor- mal range. Her serum CA125 was 77.2 U/ml the day before the procedure (cut-off 35 U/ml). A head-to-toe physical examination showed two red- dish-blue nodules with a solid consistency involving the umbilical skin, moderately tender on palpation (Fig. 1). No other lesions were identified on thorough inspection of other cutaneous regions. No pathologically enlarged lymph nodes were evident on palpation. Case Report © CIC Edizioni Internazionali Multidisciplinary Journal of Women’s Health 2013; 2 (1): 6-8 7 Recurrence of primary umbilical endometriosis: case report and review of the literature The nodule was excised with wide margins under local anesthesia and the specimen was sent for histopatho- logical examination. The macroscopic report described an elliptical specimen of skin including two nodules, a lateral one with a maximum diameter of 12 mm and a more central one, deeply embedded in the umbilicus, with a maximum diameter of 9 mm. Neither nodule showed superficial hematic scabs. Light microscopy with hematoxylin and eosin (H&E) staining showed a typical area of endometriosis consisting of endometrial- type glands and stroma. Subsequent histological exam- ination showed evidence of stratified endometrial glands and stroma. The post-operative course was uneventful and the pa- tient was given continuous oral estroprogestins for six months to induce atrophy of other possible microscopic foci of ectopic endometrium.

Overall, the estimated incidence of umbilical en- dometriosis is 0.5-1% (4,5), and it has a highly variable clinical presentation. Cutaneous endometriosis affects patients with a mean age of 35-38 years (6,7) and most commonly involves scars. Less than 30% of cutaneous endometriosis occurs in the absence of previous surgery (3-6); in such cases, the site most commonly affected is the umbilicus, fol- lowed by the inguinal area and the abdominal wall (8). The clinical features of the lesion described in different studies, e.g. color, consistency and tenderness on pal- pation, vary widely, depending on the depth of penetra- tion of the ectopic endometrial tissue and the amount of bleeding (1). Its color reportedly varies from pink to dark brown and black, while palpation commonly dis- closes a nodule with a solid consistency and moderate to severe tenderness. The nodule can be single or mul- tilobed (9). Menstrual bleeding into the dermis leads to hemo- siderin deposition, scarring and chronic inflammation. The pathogenesis of spontaneous umbilical en- dometriosis is still not well understood. Several hy- potheses have been proposed, each one explaining some specific characteristic of different clinical presen- tations of endometriosis. Most of the theories lay the development of ectopic endometrial foci either on a primitive lesion of the involved site, arising from tissue metaplasia or from embryonic remnants (the in situ theory), or on the endometrial transplantation from i) retrograde menstruation; ii) iatrogenic displacement by surgical procedures; iii) lymphatic or vascular benign metastatic transport (the implantation theory) (10). In contrast to normal, eutopic endometrial tissue, en- dometriotic tissue shows, in vitro, the capability, by itself, to produce estrogens through the aromatase cycle. Genetic (11, 12), hormonal (13) and autoimmune fac- tors (14) also play an important role in the pathogene- sis of endometriosis. The diagnosis can be suspected on the basis of clinical signs and symptoms collected through a detailed histo- ry and physical examination, but it must always be con- firmed pathologically through H&E staining. The histo- logical image will typically show irregular glands lined by columnar epithelium among a myxoid stroma with extravasation of blood into the gland lumina. In the event of doubt, immunocytochemistry stains such as vimentin and CD10 are used to confirm the pres- ence of endometrial-type stroma around endometrial- type glands (15). The treatment of choice is conservative surgical exci- sion of the lesion, with sufficient healthy margins to pre- vent recurrence, with a subsequent course of medica- tion effective in inducing endometrial atrophy (16). It is recommended that surgical excision be performed at the end of the menstrual period, when the nodule is smaller and a smaller excision can therefore be per- formed (18). Postoperative medications to induce endometrial atro- phy include continuous oral contraceptives, i.e. given without the one-week cyclical suspension, or go- nadotropin releasing hormone superactive analogs. Both medications effectively inhibit ovarian function and therefore the cyclical stimulation of the endometrium (16-18), while the prevalently progestogenic environ- ment induced by oral estroprogestins has a direct atro- phying effect on the endometrium. Although endometriosis may recur after the course of medication is stopped, the prognosis is usually from good to excellent, with little or no symptoms at all re- maining after proper treatment. Relapses are uncommon if excision is performed with clean and wide margins (1). In conclusion, primary endometriosis is a rare condition whose diagnosis may be sometimes challenging. It can be suspected clinically from the patient’s history, but should be confirmed with histological examination.

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