Beyond the Ordinary: A Surgical Approach to Perianal Paget Disease

Abstract

Perianal Paget Disease (PPD) is a rare form of extramammary Paget disease characterized by erythematous or eczematous plaques in the perianal region. Its rarity and resemblance to benign skin conditions often result in delayed diagnosis.

We present the case of a 56-year-old woman with a 4-year history of a refractory perianal lesion. A sharply demarcated erythematous plaque was identified, and biopsy confirmed PPD. Further workup excluded any underlying malignancy. Wide local excision with a 10-mm margin was performed, sparing the anal sphincters, followed by immediate reconstruction using a right gluteal fasciocutaneous V-Y advancement flap. The postoperative period was uneventful, and pathology confirmed negative margins.

Perianal Paget Disease requires differentiation from benign skin conditions and thorough evaluation for underlying malignancies. Many treatment options are available. However, surgery—more specifically wide local excision—remains the standard treatment. Despite the lack of standardized guidelines, long-term follow-up is essential due to the risk of recurrence and malignancy.

The present report highlights the importance of considering PPD in cases of chronic refractory perianal lesions and the need for developing guidelines for managing patients with PPD.

Keywords

perianal Paget disease - extramammary Paget disease - perianal neoplasms

Introduction

Paget disease is a rare intraepithelial adenocarcinoma that can present in any body site with apocrine glands.[1] [2] The most common site is the breast;[2] however, it can also occur in extra-mammary locations, with the vulva being the most frequent.[3]

Perianal Paget disease (PPD) is a subset of extramammary Paget disease (EMPD), accounting for less than 6% of all Paget disease cases.[4] [5] It typically presents as well-demarcated erythematous or eczematous plaques or macules in the perianal region, often accompanied by pain, pruritus or oozing.[4] [6] These lesions do not resolve after classical local therapy with corticosteroids.[7] Perianal Paget disease is most commonly observed in elderly individuals, particularly women and Caucasians.[8] [9] Extramammary Paget disease is associated with underlying malignancies, and the site of Paget disease often correlates with the location of the associated malignancy.[7]

Two distinct forms of perianal Paget disease are described: the primary, which arises from a primary cutaneous lesion, and the secondary type, which is associated with underlying gastrointestinal or genitourinary neoplasm.[10] [11] The primary disease is the most common form, accounting for ∼ 60% of cases.[11]

Clinical Case

A 56-year-old woman was initially evaluated in the dermatology clinic for a perianal lesion, with a 4-year evolution, refractory to topical treatment. She presented with a sharply demarcated, eczematous and erythematous plaque originating from the right hemi-circumference of the anal verge, involving an area of 6.5 × 5 cm of skin ([Fig. 1]).

Fig. 1 Image of the perianal lesion.

Her medical history was unremarkable. Rectal examination was normal, and no enlarged inguinal lymph nodes were detected. A skin biopsy was performed, and the diagnosis of extramammary Paget disease was made.

Further workup to exclude an underlying malignancy included colonoscopy as well as computed tomography (CT) scan of the chest, abdomen, and pelvis, which showed no further or distant lesions. Pelvic magnetic resonance imaging (MRI) confirmed a lesion circumscribed to the skin, with no involvement of the anal sphincter. The patient was referred to our colorectal unit, and wide local excision was recommended. Given the size of the lesion, she was also evaluated by the plastic surgery team.

The day prior to surgery, the patient underwent mechanical bowel preparation. The patient was placed in a prone jackknife position with both buttocks retracted laterally using adhesive tapes. A 10-mm margin was marked around the lesion. Wide local excision was performed following the pre-marked lines, removing the affected area along with surrounding dermal, subcutaneous, and adipose tissues. The dissection was extended circumferentially toward the anal canal, exposing the pectinate line where the surgical specimen was sectioned. The external and internal sphincters were preserved. Several interrupted 3–0 Vicryl (Ethicon, Inc.) sutures were placed between the rectal mucosa and both sphincters to facilitate the placement of the graft ([Fig. 2]).

Fig. 2 The wound after wide local excision with the mucocutaneous sutures.

An immediate reconstruction was performed using a right gluteal fasciocutaneous V-Y advancement flap. The skin of the flaps was sutured to the sphincter complex, and a suction 14Fr Blake drain (Ethicon, Inc.) was inserted at the flap site. A negative pressure wound therapy system was placed ([Fig. 3]). The team decided not to perform a stoma.

Fig. 3 Reconstruction with right gluteal fasciocutaneous V-Y advancement flap.

Bed rest was maintained during the first 2 days, and only prone and lateral positioning were allowed. The postoperative period was uneventful, and the patient was discharged 10 days after the surgery. The final specimen measured 9.2 × 7.5 × 2.3 cm. Pathology confirmed the diagnosis of PPD, with tumor-free margins.

At the 6-month follow-up, the surgical site had healed without flap compromise. The patient reported episodes of fecal incontinence. Pelvic floor rehabilitation was initiated with significant improvement. There is no evidence of PPD recurrence.

Discussion

Extramammary Paget disease is a rare disease that can mimic benign skin conditions such as dermatitis, eczema, or psoriasis.[10] Moreover, it commonly occurs in areas that are difficult to self-examine,[3] thus contributing to a well-documented delay in diagnosis, which can extend for several years,[7] [12] as described in this case.

Although the diagnosis of EMPD requires an extensive evaluation for an underlying malignancy,[1] [3] the rarity of the disease and the heterogeneity among the reported cases have led to a lack of standardized guidelines to direct its workup.[5] The same challenge applies to its management and surveillance.[3]

The treatment for PPD depends on factors such as the local extent and depth of the disease, lymph node involvement, the presence of metastases, and the patient's comorbidities.[10] Surgery remains the mainstay of treatment for primary PPD, typically involving wide local excision with appropriate margins,[12] as demonstrated in the case we presented. However, there is no consensus regarding the margin size, with recommendations ranging from 10 to 50 mm. Most reports and studies adopt a 10-mm margin as reference, particularly because the disease often involves functionally critical areas or regions that are anatomically challenging to reconstruct.[13]

Besides surgery, other treatment options are available, mostly for patients who are unfit for surgery, have multifocal widespread disease, or those who decline surgical intervention.[2] These options include radiotherapy, chemotherapy, photodynamic therapy, and topical treatments, such as 5-fluorouracil, retinoic acid, and imiquimod 5% cream.[2] [14]

When wide local excision is performed, it often results in a significant tissue defect that cannot be closed primarily. Several reconstructive techniques have been described to close these defects, including skin grafts, skin flaps, myocutaneous flaps, and secondary healing. In PPD, the significant tissue loss, combined with the need to preserve organ function and achieve a satisfactory cosmetic outcome, makes the selection of the most appropriate reconstructive technique critically important. For large defects, a temporary colonic diversion can sometimes be used to protect the wound from fecal contamination.[7]

Follow-up for patients with primary or secondary PPD should be thorough and long-term due to its association with malignancies, including colorectal and genitourinary, among others. The follow-up should also focus on the high frequency of local recurrence,[14] which has been reported in up to 60% of cases.[8]

Primary PPD generally has a good prognosis when local disease control is achieved. Although 5-year survival rates exceed 90%, metastasis and disease-related mortality have been reported.[7] The most important prognostic factors for primary EMPD are the depth of invasion and extracutaneous spread of the disease.[15] For patients presenting with these unfavorable characteristics, a tailored follow-up is of utmost importance.

Conclusion

Perianal Paget disease should always be considered in cases of a perianal lesion that is refractory to topical treatment. Skin biopsy is essential for the definitive diagnosis of the lesion.

Given the association of PPD with underlying malignancies, the crucial need for thorough assessment of these patients must be highlighted. Although our case did not reveal an associated malignancy, it raises the question of how to approach long-term follow-up in such situations. This case reinforces the need for further studies and the development of clear guidelines for managing patients with PPD.

Conflict of Interests

The authors have no conflict of interests to declare.

Authors' Contributions

Rita Ribeiro Dias: conceptualization, data curation, formal analysis, investigation, methodology, project administration, visualization, writing– original draft André Gonçalves: conceptualization, data curation, formal analysis, investigation, methodology, project administration, visualization, writing– review & editing Joana Costa, Pedro Organista Machado, Eliane Jaconiano, Daniela Marinheiro Silva, Miguel Machado, Carolina Leal:Investigation, visualization Silvestre Carneiro: ressources, supervision.

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Publication History

Received: 05 February 2025

Accepted: 11 August 2025

Article published online:
29 December 2025