Extramammary Paget’s Disease: Symptoms, Causes, Treatment

What are the symptoms of extramammary Paget’s disease?

Extramammary Paget’s disease (EMPD) is a rare form of cancer that typically affects areas rich in apocrine sweat glands, such as the genital region, perianal area, and axilla (armpit). Symptoms of EMPD may include:

1. Red, scaly, or thickened skin: The affected area may appear irritated, with skin that is red, scaly, or thicker than normal.
2. Itching or burning sensation: Patients may experience itching or a burning sensation in the affected area.
3. Pain or tenderness: The skin may be painful or tender to the touch.
4. Presence of a lump or mass: A lump or mass may be felt under the skin in the affected area.
5. Ulceration or bleeding: In some cases, the affected skin may ulcerate or bleed.

It’s important to note that these symptoms can also be indicative of other skin conditions, so a proper diagnosis by a healthcare professional is necessary for appropriate treatment.

What are the causes of extramammary Paget’s disease?

The exact cause of extramammary Paget’s disease (EMPD) is not well understood. However, it is believed to be associated with underlying adenocarcinoma, which is a type of cancer that originates in glandular cells. Here are some factors that may contribute to the development of EMPD:

1. Underlying adenocarcinoma: EMPD is often associated with an underlying adenocarcinoma, which may be located in areas such as the gastrointestinal tract, genitourinary tract, or other organs. It is thought that the Paget cells in EMPD are actually adenocarcinoma cells that have spread to the skin.
2. Chronic inflammation: Chronic inflammatory conditions, such as dermatitis or inflammatory bowel disease, may be associated with an increased risk of developing EMPD.
3. Genetic factors: There may be genetic factors that predispose certain individuals to develop EMPD, but more research is needed to understand the specific genetic contributions.
4. Immunosuppression: People with weakened immune systems, such as those with HIV/AIDS or those taking immunosuppressive medications, may be at a higher risk of developing EMPD.
5. Age and gender: EMPD is more common in older adults and is slightly more common in women than in men.
6. Other factors: Some studies suggest that factors such as chronic sun exposure and smoking may also play a role in the development of EMPD, but more research is needed to confirm these associations.

How is the diagnosis of extramammary Paget’s disease made?

The diagnosis of extramammary Paget’s disease (EMPD) typically involves a combination of clinical evaluation, skin biopsy, and sometimes additional tests to determine the extent of the disease and whether there is an underlying malignancy. Here’s an overview of the diagnostic process:

1. Clinical examination: A healthcare provider will first conduct a physical examination of the affected area to look for characteristic signs of EMPD, such as red, scaly, or thickened skin.
2. Skin biopsy: A biopsy is the definitive test for diagnosing EMPD. During a biopsy, a small sample of skin is removed and examined under a microscope by a pathologist. The presence of Paget cells in the skin sample confirms the diagnosis.
3. Immunohistochemistry: Immunohistochemistry (IHC) may be performed on the biopsy sample to help differentiate Paget cells from other types of cells and to determine if there is an underlying adenocarcinoma.
4. Imaging studies: Imaging studies such as ultrasound, CT scans, or MRI scans may be recommended to determine the extent of the disease and to look for any underlying malignancy.
5. Other tests: In some cases, additional tests such as blood tests or endoscopic examinations may be performed to look for underlying adenocarcinoma in the gastrointestinal or genitourinary tract.
6. Consultation with other specialists: Due to the association of EMPD with underlying malignancies, a multidisciplinary approach involving dermatologists, oncologists, and other specialists may be necessary for a comprehensive evaluation and management plan.

The diagnosis of EMPD can be challenging, and a thorough evaluation by healthcare professionals experienced in managing this condition is crucial for accurate diagnosis and appropriate treatment.

What is the treatment for extramammary Paget’s disease?

The treatment for extramammary Paget’s disease (EMPD) depends on several factors, including the extent of the disease, whether there is an underlying malignancy, and the overall health of the patient. Treatment options may include:

1. Surgery: Surgical excision is often the primary treatment for localized EMPD. This involves removing the affected skin and a small margin of healthy tissue around it to ensure complete removal of the Paget cells.
2. Mohs micrographic surgery: Mohs surgery is a specialized surgical technique that allows for the precise removal of skin cancer while preserving as much healthy tissue as possible. It is often used for EMPD located in areas where preserving tissue is important, such as the genital region.
3. Topical therapies: Topical treatments such as imiquimod or 5-fluorouracil (5-FU) cream may be used for small, superficial EMPD lesions or for patients who are not candidates for surgery. These medications work by stimulating the body’s immune response to target and destroy abnormal cells.
4. Radiation therapy: Radiation therapy may be used as a primary treatment for EMPD in cases where surgery is not possible or as adjuvant therapy following surgery to reduce the risk of recurrence.
5. Chemotherapy: Systemic chemotherapy may be recommended for advanced or metastatic EMPD that has spread to other parts of the body. Chemotherapy drugs are given orally or intravenously to kill cancer cells.
6. Biological therapies: Targeted therapies, such as trastuzumab (Herceptin), may be used in cases where EMPD is associated with HER2/neu overexpression, which is more common in EMPD arising from underlying adenocarcinomas.
7. Follow-up care: Regular follow-up visits with healthcare providers are important for monitoring the disease, checking for recurrence, and managing any side effects of treatment.

The choice of treatment depends on the individual patient and should be determined by a multidisciplinary team of healthcare providers experienced in managing EMPD.

What is the mortality rate for extramammary Paget’s disease?

Extramammary Paget’s disease (EMPD) is a rare condition that affects the skin, typically occurring in areas outside of the breast tissue. The mortality rate for EMPD is generally low, and it is considered to be a benign condition.

However, EMPD can sometimes be associated with an underlying malignancy, particularly adenocarcinoma, and this can affect the overall mortality rate. According to some studies:

• A study published in the Journal of Clinical Oncology found that the 5-year survival rate for EMPD patients with no evidence of metastasis was approximately 90%.
• Another study published in the Journal of Dermatology found that the overall 5-year survival rate for EMPD patients was around 80%, with a 5-year disease-specific survival rate of approximately 95%.

It’s worth noting that these mortality rates are generally related to the presence or absence of metastasis, rather than the EMPD itself. The overall mortality rate for EMPD is generally low, and most patients with this condition can expect to live for many years without any significant complications.

It’s important to note that EMPD can be a challenging condition to diagnose and manage, and it may require ongoing treatment and monitoring to ensure that the condition does not progress or recur.