Painful catamenial vulvar lesions misleading gynecologist

Introduction

Endometriosis is a chronic inflammatory condition defined as presence of endometrial tissue outside of the uterine cavity. ¹ Approximately 1 in 10 reproductive-age women have endometriosis. Even though typical locations for endometriosis are ovaries and the pelvis, it can also present as cutaneous lesions on the vulva. Extrapelvic endometriosis is considered as a rare condition and reported to account for around 12% of the endometriosis. ² Its hallmark symptoms are cyclical pain and swelling associated with menses.

Hidradenitis suppurativa (HS), also known as acne inversa, is a chronic inflammatory painful skin disease which might occur in groin, perianal, and perineal regions. ³ A recent meta-analysis including 16 studies revealed a 0.40% HS prevalence (95% CI, 0.26%–0.63%) where population-based studies (0.3%) showed a lower HS prevalence than the studies based on the clinical samples (1.7%). ⁴

HS is a clinical diagnosis where recurrent painful or suppurating lesions occurring more than twice or more within 6 months in axillary, genitofemoral, perineal, gluteal, and inframammary regions are suggestive of the disease. Presence of inflamed or non-inflamed nodules, sinus tracts, abscesses, scarring with atrophic, mesh-like, red, hypertrophic, or linear lesions also support its diagnosis. ⁵ As no definitive tests are available for HS diagnosis, many diseases such as Crohn’s Disease and lymphogranuloma venereum may mimic these symptoms, prolonging the time from initial presentation to diagnosis is to an average of 7.2 years.^5,6 Vulvar hidradenitis suppurativa is a highly rare diagnosis with limited reports on literature. ⁷

Here, we report a confirmed case of hidradenitis suppurativa limited to vulva which was initially diagnosed and managed as cutaneous endometriosis.

Case description

A 32-year-old nulligravid woman presented to our outpatient gynecology clinic with painful lumps on her vulva and groin. Lesions were present intermittently for 1 year with pressure-like pain, radiating to upper thigh as numbness. She reported having fullness at lesions and accompanying thin bloody discharge which lasts for 1–2 days after the onset of menses. Patient also described dyspareunia especially before and after her menstrual periods. She denied having similar lesions at any other region of her body including the axilla, perianal region, or around the skin folds. Patient underwent lesion excision at another center a year ago, however, pathological study was not performed and definitive diagnosis was not reached. She experienced improvement in symptoms after that procedure, however, her symptoms relapsed in the last 3 months.

The patient has regular menstrual periods, usually heavy and lasting for 5 days since menarche at age 11. She reported having cyclical diarrhea around the onset of menses bi-monthly. She has never been pregnant, has no history of ovarian cysts or fibroids. Her past medical history revealed chronic urticaria diagnosed 18 years ago. Her surgical history was non-significant except for the described lesion excision. Her family history was unremarkable except for maternal alopecia universalis. Review of symptoms was unremarkable except for the history of present illness. She had a history of 10 pack-year cigarette smoking. Her body mass index was 24.8 kg/m².

Initial physical exam was performed mid-cycle. External genitalia including labia, clitoris, urethral orifice, and introitus was normal to inspection, non-tender to palpation, and no lesions were visualized. Bimanual examination and transvaginal ultrasound scan of the pelvis showed uterus and adnexa of normal size and location, without any sign of pelvic endometriosis. Physical exam was repeated at the time of her following menstrual period. At that time, the external genital exam was remarkable for purple, firm, and nodular lesions with oozing bloody and purulent discharge on vulva and groin (Figure 1). Considering the purple appearance of lumps and the cyclical nature of exacerbation of symptoms with menses, endometriosis was highly suspected. She was prescribed combined oral contraceptive (COC) pills containing 0.03 mg ethinyl estradiol and 3 mg drospirenone to monitor symptom relief. At the 8-week follow up visit, the patient endorsed decrease in the size of lesions and significant decrease in pain after starting COCs. However, she developed severe headaches and quitted the tablets after 1 month.

OPEN IN VIEWER

Figure 1.

External genitalia physical examination findings: bleeding and blue-black cystic nodule.

One year later, the patient reported to the clinic with the return of painful vulvar lesions in a similar fashion to the initial presentation. At that time, therapeutic surgical excision of the lesions was discussed with the patient for definitive diagnosis and treatment. Following lesion excision, four specimens measuring 1–3 cm obtained from labia bilaterally (1.7 and 2.3 cm diameter), right pubis (1.2 cm diameter), and right groin (in 3 cm diameter) were sent to the pathology for examination (Figure 2). Histologically, all biopsy samples were sharing, extensive dermal fibrosis, and acute inflammatory suppurative inflammation which extends into the subcutaneous adipose tissue with infundibulocystic enlargement in some hair follicles. Neither granulomatous inflammation nor endometriotic foci were not seen. The findings were consistent with ruptured suppurative folliculitis and interpreted as hidradenitis suppurativa (Figure 3). Cultures from the lesions were negative for bacterial growth. The patient was referred to a dermatologist, and oral doxycycline therapy was started for stage I HS treatment, which consequently resulted in diminished nodule size and improvement of symptoms. She had spontaneous pregnancy and delivered a healthy baby girl via cesarean section.

OPEN IN VIEWER

Figure 2.

(a) Excision of the lesions A. (b) Excision of the lesions B. (c) Excision of the lesions C.

OPEN IN VIEWER

Figure 3.

(a) Histological features of the biopsy samples. Dermal fibrosis and inflammatory cell infiltration extending into the surrounding connective tissue (H&E stain, 50x). (b) The sinuses are focally lined by stratified squamous epithelium and surrounded by mixed type inflammatory cell infiltration (H&E stain, 100x).

Conclusion

As one of the most common pain syndromes associated with menstrual exacerbation, endometriosis is also leading cause admission to gynecology outpatient clinics. Additionally, although spontaneous perineal and vulvar endometriosis is rare, exacerbation or presentation of symptoms in response to the menstrual cycle prompts endometriosis. ⁸ We present a rare case of vulvar HS. Occurrence of pain during menstrual period, drainage of bloody discharge from the vulvar nodules, associated dyspareunia, and cyclic diarrhea led us to strongly suspect for endometriosis which she was previously managed for. Her initial response to COC was also supportive of endometriosis. However, definitive diagnosis was made by biopsy as HS.

Similar to HS, perineal and vulvar endometriosis manifests as a normal, brown, or blue-black cystic, ill-defined papule or nodule nearby a surgical scar accompanied by cyclic pain and swelling during menses. ⁹ Although biopsy is not required to diagnose HS, it can be considered for definitive diagnosis for the uncertain cases as in our case. Interestingly, the typical onset of HS is after puberty with female predominance which was not the case for this patient. Pre-menstrual flare-ups and the improvement during pregnancy, like endometriosis, were also reported. ¹⁰ Similarly, 43% of patients with HS have reported a deterioration of symptoms around menses. ¹¹ Our patient’s worsening symptoms were also supportive of these findings.

Upon diagnosing patients as vulvar HS, the gynecologist should refer patients to dermatologist for HS staging based on Hurley’s clinical staging and its appropriate management. Hurley’s Stage I involves single or multiple abscess without cicatrization and sinus tracts, Stage II is suggestive of recurrent abscesses with scar, sinus tracts, and single or multiple widely separated lesions, and Stage III manifests as multiple interconnected sinus tracts and abscesses across the entire area or diffuse or broad involvement. ⁵ Briefly, HS treatment involves achieving of at least of these three goals (i) decreasing formation of new lesions, (ii) treating current lesions by reducing their associated symptoms, such as pain, and (iii) minimize HS-associated psychologic morbidity.

Although it is very rare, HS can to be complicated by vulvar, perineal, or perianal carcinomas. A systematic review of the literature reported seven patients with HS (Hurley Stage I:1, II:2, and III:3) developed squamous cell carcinoma of vulva after as early as 2 years of HS diagnosis. ¹² In total six cases of perineal/perianal carcinomas in patients with HS (Hurley Stage II:1 and III:4) were also reported. ¹²

HS is one of the catamenial (associated with or relating to menstruation) dermatoses. Briefly, these conditions are affected by the circulating sex steroid hormones (CSSH) which are involved in skin homeostasis, including fat deposition, hydration, lipid and sebum production, and epidermal thickness.^13,14 Collectively, the skin changes together with other premenstrual syndrome (PMS) symptoms include breast tenderness, constipation, frequency of micturition, edema excitability, headache, lethargy, malaise, depression, nausea, seborrhea, and acne. ¹⁴ Even though progesterone administration is a treatment option for PMS due to progesterone deficiency, its use in catamenial skin conditions has not been well accepted. ¹⁴

It has been hypothesized that cutaneous immune milieu might have been affected by CSSH, hence, cyclical exacerbations of catamenial dermatoses occur. ¹³ Differential diagnosis for other catamenial dermatoses should also include autoimmune progesterone dermatitis (AIPD), autoimmune estrogen dermatitis (AIED), and also exacerbations of chronic inflammatory dermatoses, such as Behçet’s disease, eczematous dermatoses, hereditary angioedema, impetigo herpetiformis, keratosis follicularis so-called Darier disease, pyoderma gangrenosum, lupus erythematosus. ¹³ However, the timing of flare in these conditions varies which might be helpful to differentiate. ¹³ For instance, AIPD flares 2 weeks before the menstruation whereas the symptoms of AIED is prominent 3–10 days prior to mensuration. ¹³ Behçet’s disease, bullous pemphigoid, and HS show their symptoms during the mensuration. ¹³

In conclusion, it is crucial to include endometriosis and HS in the differential diagnosis list when a woman presents with painful cyclical lesions around external genitalia. This would prevent the delay in diagnosis of the disease and allow timely treatment of the disease, saving the patient from further physical and psychological burden. It is also important to consult patients with similar symptoms, who are not responsive to the endometriosis treatment, to the dermatologist before invasive approach. After definitive diagnosis of vulvar HS, these patients should also be referred to gynecologic oncologists for follow-ups to assess vulvar, perineal, or perianal carcinomas.