Extramammary Paget’s disease: when is enough, enough?

What is known about this subject in regard to women and their families? Extramammary Paget’s disease (EMPD) treatment primarily focuses on complete surgical removal of the affected area with clear margins. Extensive surgical interventions can lead to pain, scarring, sexual dysfunction, and diminished quality of life, yet mortality from EMPD remains low. The emotional and functional burden of invasive surgical interventions on women and their families is underreported. What is new from this article as messages for women and their families? Aggressive surgeries do not always prevent recurrence and can cause lasting disfigurement and harm. Less invasive treatments such as topical imiquimod, photodynamic therapy, and laser may offer effective alternatives. Women and families should be informed of all options and advocate for care that prioritizes quality of life. Introduction Extramammary Paget’s disease (EMPD) is a rare cutaneous carcinoma affecting apocrine-rich vulvar, perianal, or axillary skin. It arises from the epidermis (primary) or from underlying malignancy (secondary).1,2 Prognosis is favorable, with a 5-year survival of 90% to 100% in non-invasive EMPD.3 With no dedicated National Comprehsive Cancer Network (NCCN) guidelines, surgery remains the primary treatment option, typically wide local excision (WLE) or Mohs micrographic surgery (MMS).1,2,4 However, EMPD often presents with ill-defined borders, skip lesions, and subclinical spread with frequent positive margins and recurrence after excision, resulting in multiple aggressive surgical interventions.5 Report of cases We present 5 cases of women with a prior diagnosis of primary EMPD who presented to our specialty vulvar clinic over a 15-month timeframe, requesting a second opinion. Each of these patients had initially undergone surgery with a goal of cure. The first patient had perianal EMPD treated with MMS, followed by a rectal-sparing procedure with an unexpected 6-month healing period. The second had vulvar EMPD treated initially with WLE, then MMS for recurrence, which was aborted due to difficulty achieving clear margins. The third patient with vulvar EMPD underwent 5 surgeries, including bilateral vulvectomies, total vulvectomy (complicated by hemorrhage), and sharp excision, followed by recurrence. The fourth patient with vulvar EMPD underwent WLE and experienced recurrence within 1 year. The fifth patient had multifocal recurrent EMPD treated with multiple surgeries, including partial and total vulvectomies, laser, and sharp excision, ultimately showing persistent positive margins. Four of 5 patients had recurrence, and all experienced scarring, disfigurement, and negative impacts on quality of life (QoL) (Fig. 1 and Table 1). Table 1 - Summary of extramammary Paget’s disease patient cases, surgical history, treatments, and outcomes Case Age Location of EMPD Surgical interventions (No.) Prior treatment summary Disease status and therapy initiated Subjective quality of life outcome VQLI (range 0–45) 1 70 Perianal 2 Mohs micrographic surgery (1/2024), rectal-sparing procedure (5/2024), healing by secondary intention No recurrence after 15 months Significant and larger than expected tissue loss, 6-month healing period, long-term functional impairment N/A 2 80 Bilateral labia majora 2 Wide local excision (2021); recurrence; attempted MMS (2024, aborted) Active disease; started on topical imiquimod 5% cream and topical lidocaine 5% ointment Scarring, pain, disfigurement 35 3 76 Bilateral labia majora & perineum 5 Left vulvectomy (2017, positive margins); left and partial right vulvectomies (2020, positive margins); total vulvectomy (2022, complicated by heavy bleeding); laser ablation (2022); right vulvectomy, left vulvar excision, left vulvar laser ablation (2024) Active disease; started on topical imiquimod 5% cream and topical lidocaine 5% ointment Chronic pain, scarring, disfigurement N/A 4 69 Left labia minora 2 Wide local excision (2025, positive margins) Active disease; started on topical imiquimod 5% cream and topical lidocaine 5% ointment Pain, itching, irritation around sutures, anxiety about follow-up and future care N/A 5 87 Multifocal (vulvar, perineal, perianal, inguinal, abdominal) 5 Right simple vulvectomy (2002), right vulvar excision (2003), partial vulvectomy of anterior vulva and left labia (2010), total vulvectomy with resection of mons and z-plasty with flap (2014), laser and sharp excision vulvectomy, total vulvectomy and sharp excision (2024) Active disease; started on topical imiquimod 5% cream and topical lidocaine 5% ointment Pain, itching, bleeding, poor healing, disfigurement, scarring N/A Vulvar Quality of Life Index (VQLI) is a 15-item validated scoring system used to measure the global impact of vulvar disease on quality of life. Higher scores indicate greater impairment of quality of life. Fig. 1.: Primary extramammary Paget’s disease. (A) Patient 1 with perianal EMPD status-post Mohs micrographic surgery. (B) Patient 2 with labia majora EMPD recurrence with residual scarring from prior surgeries. (C) Patient 3 with multifocal EMPD recurrence, extensive scarring after multiple surgical interventions. (D) Patient 4 with labia majora EMPD recurrence after wide local excision of right labia majora. (E) Patient 5 with extensive multifocal EMPD recurrence, architectural distortion, and scarring from multiple surgical interventions.Discussion These cases corroborate existing literature, underscoring the limitations of surgical treatment for EMPD. With or without histologically clear margins, recurrence rates range from 15% to 70%, and repeat procedures cause substantial physical and emotional morbidity.2,5 Despite growing awareness, formal treatment recommendations are lacking, and guidance is based on retrospective experience. Notably, QoL outcomes on surgical treatment for EMPD are largely absent from the literature, leaving the true impact of repeated, disfiguring procedures overlooked.1,2 Validated instruments such as the Vulvar Quality of Life Index (VQLI), assessing symptomatic, psychosexual, and functional impact, offer a structured way to evaluate patient experience. While surgical resection with curative intent may be preferred for invasive or secondary EMPD, nonsurgical therapies should be considered for primary disease, especially in low-risk or recurrent cases.2,3 Topical imiquimod has shown a 67% clinical response and 48% complete clearance rate. Additionally, CO₂ laser and photodynamic therapy provide alternative options.2,3 Integrating QoL tools would support individualized treatment decisions and encourage future research in developing guidelines that consider the emotional, functional, and psychological impacts of surgical intervention. Conclusion There is an urgent need for evidence-based treatment strategies addressing both disease control and QoL impacts in EMPD. High recurrence and morbidity associated with surgery call for reconsideration of current practices. Imiquimod and other nonsurgical options should be considered in treatment and prioritized in research. Prospective studies with long-term follow-up and incorporation of QoL tools such as VQLI are essential to guide a more patient-centered approach to EMPD. Conflicts of interest None. Funding None. Study approval N/A. Author contributions EF: Conceived and designed the study, and revised and edited the manuscript drafts. EF and KR: Material preparation, data collection, and analysis. KR: Wrote the first draft of the manuscript. Consent Consent was obtained for all 5 photographs used in this manuscript, and they have been deidentified.