Paget’s disease of the vulva is a rare skin condition affecting the outer female genital area, often mistaken for common skin problems like eczema. This slow-growing condition typically appears in postmenopausal women and presents as red, itchy, scaly patches that can persist for years before proper diagnosis.

Epidemiology

Paget’s disease of the vulva is an extremely rare condition that affects a very small portion of women worldwide. It represents only about one to two percent of all cancers that occur in the vulva, making it an uncommon diagnosis even among healthcare specialists^[4]. The disease is sometimes classified under the broader term extramammary Paget’s disease, which means Paget’s disease occurring outside the breast area. Among all cases of extramammary Paget’s disease, approximately 65 percent involve the vulva, making it the most common site for this particular type of condition^[3][4].

The disease shows clear patterns in terms of who it affects most commonly. White or Caucasian women are significantly more likely to develop Paget’s disease of the vulva compared to women of other ethnic backgrounds^[4][5]. The condition predominantly strikes women who have already gone through menopause, with the typical age range falling between 50 and 80 years old^[3][8]. Studies have shown that the peak age for diagnosis is around 65 years, though the disease has been reported in patients as young as their early fifties and as old as their early eighties^[8][7].

Research has also identified specific characteristics that appear more frequently in women who develop this condition. Women with higher body mass index seem to face increased risk, as do those who have used hormone replacement therapy during or after menopause^[4]. Understanding these patterns helps healthcare providers maintain appropriate awareness when examining women who fit these demographic profiles, though it’s important to remember that the disease can theoretically affect any woman regardless of these risk factors.

Causes

The exact cause of Paget’s disease of the vulva remains incompletely understood by medical researchers. When the condition develops on its own without connection to another cancer, it is called primary Paget’s disease, and scientists believe it may originate from specific types of cells naturally present in certain areas of the body^[3]. These cells include apocrine gland duct cells, which are specialized sweat glands connected to hair follicles, keratinocyte stem cells that help repair skin, and Toker cells found in nipple and vulvar tissue^[3].

Some experts believe that genetic mutations and chronic inflammation of the skin may play important roles in the development of the disease^[6]. Research has shown that a protein called p53, which normally helps suppress tumor formation, may affect how the disease progresses, though its exact role is still being studied^[5]. Additionally, scientists have identified that angiogenesis, which is the formation of new blood vessels, appears to play an important role in the disease’s development and spread^[5].

In some cases, Paget’s disease of the vulva develops as a result of an underlying cancer elsewhere in the body. This form is called secondary Paget’s disease^[3]. When secondary disease occurs, it means that abnormal or cancerous cells from another organ have spread to the vulvar skin. The cancers most commonly associated with secondary Paget’s disease include rectal cancer, which accounts for about one-third of such cases, as well as anal, bladder, cervical, ovarian, uterine, and breast cancers^[3][4]. This connection explains why doctors often recommend additional screening tests to look for hidden cancers when Paget’s disease is diagnosed.

Risk Factors

While Paget’s disease of the vulva can theoretically develop in any woman, certain groups face higher likelihood of experiencing this condition. Age stands out as one of the most significant risk factors, with women between 50 and 80 years old representing the vast majority of cases^[3]. Postmenopausal status in particular appears strongly associated with the disease, suggesting that hormonal changes after menopause may create conditions that favor its development^[2][5].

Ethnic background also influences risk, as Caucasian women experience the disease more frequently than women of other races^[4][5]. Body weight may contribute as well, since women with higher body mass index appear to develop the condition more often than those with lower body weight^[4]. The use of hormone replacement therapy has been identified as another potential risk factor, though the exact mechanism behind this association remains unclear^[4].

Women who have been diagnosed with other cancers, particularly those affecting organs near the vulva, face increased risk of developing secondary Paget’s disease. This includes women with cancers of the bladder, rectum, colon, cervix, or uterus^[4]. Additionally, some studies suggest that between 10 and 30 percent of women with Paget’s disease of the vulva also have invasive adenocarcinomas, which are cancers originating in glandular tissue^[5]. This association underscores the importance of comprehensive medical evaluation when the disease is suspected or diagnosed.

Symptoms

The symptoms of Paget’s disease of the vulva can be frustratingly vague and easily confused with other, less serious skin conditions. The most common complaint among women with this disease is persistent itching in the vulvar area, which is technically called pruritus. This itching can be accompanied by tenderness, irritation, and a burning sensation that may interfere with daily activities and quality of life^[5][6][8].

The visible appearance of affected skin typically includes areas that are red, scaly, or crusty^[3][8]. The skin may develop a characteristic appearance that French dermatologist William Dubreuilh first described as resembling “cake-icing scaling,” where the red skin is partially covered with a thin white coating that looks somewhat like frosting on a cupcake^[4][5]. Some women notice that the affected area has a violaceous hue, meaning it takes on a purple or violet tint^[4]. The patches grow slowly and may have irregular borders that are clearly visible against surrounding normal skin^[3][8].

As the condition advances, the skin may become thickened with white raised areas, and in some women, deep sores called ulcers or raised lumps called nodules may develop^[3][6]. Some patients experience pain in the affected area, though this is not universal^[5][6]. In more advanced cases, there may be bleeding or discharge from the vulvar area^[6]. What makes diagnosis particularly challenging is that approximately 10 percent of women with Paget’s disease of the vulva experience no symptoms whatsoever at the time of diagnosis^[3][8].

Prevention

Unfortunately, because the exact causes of Paget’s disease of the vulva remain unclear, there are no proven strategies to prevent the condition from developing. Unlike some other diseases where lifestyle modifications, vaccinations, or specific preventive measures can reduce risk, no such interventions have been identified for this particular condition. The disease appears to develop through complex mechanisms involving genetic changes and cellular abnormalities that scientists do not yet fully understand or know how to prevent.

What women can do, however, is remain vigilant about changes in their vulvar skin and seek medical attention promptly when unusual symptoms appear. Early detection, while not prevention, can lead to earlier treatment and potentially better outcomes. Women who fall into higher-risk categories—particularly postmenopausal Caucasian women—should feel comfortable discussing any persistent vulvar symptoms with their healthcare providers, even if these symptoms seem minor or embarrassing to mention.

Women who have been diagnosed with Paget’s disease of the vulva should undergo screening for other cancers, since the condition can sometimes be associated with malignancies in other organs. Routine screenings such as colonoscopy to check the colon, Pap smear tests for cervical health, mammograms for breast cancer, and potentially cystoscopy to examine the bladder may be recommended^[4][5]. While these screenings don’t prevent Paget’s disease itself, they help identify any associated cancers at earlier, more treatable stages.

Pathophysiology

Paget’s disease of the vulva is characterized by the presence of abnormal cells called Paget cells in the skin. Under a microscope, these cells appear distinctly different from normal skin cells. They are larger than the surrounding cells called keratinocytes, have clear chromatin (the material that makes up chromosomes), a prominent nucleolus (a structure within the cell nucleus), and gray-blue cytoplasm (the gel-like substance inside cells)^[11]. The cells may appear vacuolated, meaning they contain small cavities or spaces, and they are arranged in single clusters within the basal and upper layers of the epidermis, which is the outermost layer of skin^[7].

These abnormal cells typically remain confined to the epidermis, which is the surface layer of skin, and sometimes extend into the underlying skin appendages such as hair follicles and sweat glands. This is why Paget’s disease is often described as an intraepithelial condition, meaning it stays within the layer of cells that forms the surface of the skin^[2][4]. The disease is technically classified as an intraepithelial adenocarcinoma, which means it is a type of cancer that originates in glandular cells and remains within the epithelial layer^[4].

One of the challenging aspects of Paget’s disease is that it often spreads in an occult or hidden fashion, with the disease margins extending far beyond what is visible to the naked eye^[2][9]. The abnormal cells may spread sideways through the skin in patterns that cannot be detected during physical examination. This microscopic spread explains why surgical removal often results in positive margins, meaning that abnormal cells are found at the edges of the removed tissue, indicating the disease extends further than was apparent.

In some cases, Paget cells may penetrate deeper into the dermis, which is the layer of skin beneath the epidermis. When this happens, the disease is described as having “dermal invasion,” and it becomes more aggressive^[5][11]. Invasive disease carries higher risks because the abnormal cells can potentially spread to other parts of the body through the lymphatic system or bloodstream, a process called metastasis. The regional lymph nodes in the groin area are typically the first sites affected if metastasis occurs, though distant spread to organs such as the lungs, bones, liver, and adrenal glands is also possible^[5].

Despite its cancerous nature, Paget’s disease of the vulva is generally described as slow-growing. The five-year survival rate is approximately 90 percent, indicating that most women with this condition survive for many years after diagnosis^[4]. However, the prognosis becomes less favorable when invasive cancer is present or when the disease is associated with underlying malignancies in other organs. Women with these complications face more aggressive disease with higher recurrence rates and increased risk of serious outcomes.