What are the other Names for this Condition? (Also known as/Synonyms)

• EMPD in the Skin
• Extramammary Paget’s Disease arising in Skin
• Primary Cutaneous EMPD

What is Primary Cutaneous Extramammary Paget’s Disease? (Definition/Background Information)

• Mammary Paget’s disease typically arises in the breast skin surface in females; mostly around the nipple and areola. It is almost always associated with an underlying breast cancer. Paget’s disease outside the skin of the breast is rare, and in such cases, are termed extramammary Paget’s disease (EMPD). Both males and females may be affected
• Paget’s disease arising in the skin outside the breast region is called Primary Cutaneous Extramammary Paget’s Disease. The condition involves the skin with associated sweat glands (frequently apocrine sweat glands) bearing skin and mostly occurs in the pelvic region (in and around the genitalia)
• A diagnosis of Primary Cutaneous EMPD is made after excluding underlying malignancies that may result in direct skin involvement (i.e., after excluding secondary cutaneous EMPD)
• Primary Cutaneous Extramammary Paget’s Disease may be associated with an internal unrelated malignancy in as many as one-third of the cases. Even though no specific risk factors are identified, in general, Paget’s disease may be linked to obesity, radiation exposure, and are more common in Caucasians than other races
• The presence of a lesion (red skin, thickened) in the affected skin region is the most typical symptom associated with the condition. Individuals often report a burning and itchy sensation. Ulceration of the lesion can also be observed
• The treatment of choice for Primary Cutaneous Extramammary Paget’s Disease is surgery. Additionally, radiation therapy and chemotherapy may be employed depending on the assessment by the healthcare provider
• The prognosis for Primary Cutaneous Extramammary Paget Disease is considered good, when it is diagnosed early and treated promptly. However, factors that may influence the prognosis may include its association with an underlying malignancy, tumor spread, and recurrence following surgery

Who gets Primary Cutaneous Extramammary Paget’s Disease? (Age and Sex Distribution)

• Primary Cutaneous Extramammary Paget Disease is a rare condition and is typically observed in older adults (over 60 years of age)
• When the skin of the genitals is involved, more number of cases are recorded in females. At other skin sites, both males and females are affected at nearly the same incidence rate
• Per reports, less than 2% of all vulvar tumors are Primary Cutaneous EMPD. Other skin sites are even more uncommon
• Individuals of all races and ethnic groups around the world are affected. Although, Caucasians are observed to have a higher incidence of the condition

What are the Risk Factors for Primary Cutaneous Extramammary Paget’s Disease? (Predisposing Factors)

Specific risk factors associated with Primary Cutaneous Extramammary Paget Disease are currently not known. However, the following factors may play a role in the development of Paget’s disease:

• Advanced age
• Exposure to radiation
• Obesity
• Belonging to the Caucasian race

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Primary Cutaneous Extramammary Paget’s Disease? (Etiology)

Presently, the cause of Primary Cutaneous Extramammary Paget Disease is not clearly identified.

• The primary tumor is believed to represent adenocarcinoma in situ of skin involving a type of sweat glands, called the apocrine glands. It is researched that these tumors may develop from the skin (epidermal) cells of the gland ducts
• Some gene mutations are being investigated to understand the basis of Paget’s disease

What are the Signs and Symptoms of Primary Cutaneous Extramammary Paget’s Disease?

• Primary Cutaneous Extramammary Paget’s Disease mostly affects the female genitalia (vulva; area around the external vaginal opening)
• Other pelvic areas affected include the male genitals (penis and scrotum), perineum (portion between the anus and genitals), perianal region (around the anus), and groin
• In rare cases, the skin on the armpits, eyelids, and external ear, are also known to be involved

The signs and symptoms of Extramammary Paget’s Disease arising in Skin include:

• Initially, it may appear like a superficial skin condition
• Red, inflamed skin rashes that itch and burn
• The skin patches or plaques are well-defined
• Eczema-like appearance of the skin lesion (scaly lesions)
• Ulceration of the lesion; bleeding
• Pain
• Over time, but infrequently, the subcutaneous tissues may be involved and other parts of the body can be affected (local invasion and distant metastasis)

How is Primary Cutaneous Extramammary Paget’s Disease Diagnosed?

A diagnosis of Primary Cutaneous Extramammary Paget’s Disease may include:

• A complete physical examination and assessment of the individual’s medical history
• Ultrasound scan of the affected region
• Computed tomography (CT) and magnetic resonance imaging (MRI) scans, as necessary
• Skin biopsy: A skin biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis

Note:

• Additional tests may be performed to rule-out an invasive carcinoma (affecting any other internal part of the body), following a diagnosis of extramammary Paget’s disease
• Primary Cutaneous Extramammary Paget’s Disease is staged per American Joint Committee on Cancer (AJCC) TNM system or FIGO, when female genitalia are affected

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Primary Cutaneous Extramammary Paget’s Disease?

The following may be some complications of Primary Cutaneous Extramammary Paget’s Disease:

• Bleeding and ulceration might lead to bacterial and fungal infections
• Pain/discomfort during intercourse
• Stress, anxiety due to cosmetic concerns and cancer
• Uncommonly, tumor metastasis to the lymph nodes of the groin and other regions of the body may be noted
• Recurrence of the condition even after treatment - Paget’s disease is reported to recur and can become chronic
• Side-effects of chemotherapy and radiation therapy

How is Primary Cutaneous Extramammary Paget’s Disease Treated?

The best treatment option for Primary Cutaneous Extramammary Paget’s Disease is surgery.

• In majority of cases, a wide surgical excision and removal of the entire tumor/lesion is the preferred treatment option. The surgical removal of the tumor depends on the size and stage of the condition. This may be followed by radiation therapy and/or chemotherapy
• Mohs Micrographic Surgery may be considered as a surgical option in extramammary Paget’s disease. The number of cases treated with this technique is not great enough to have a firm statistical basis for Mohs
• This may be followed by radiation therapy and/or chemotherapy
• For metastasized tumors (in rare cases), a combination of chemotherapy, radiation therapy, and invasive procedures may be used
• In some cases, non-surgical treatment methods may be employed, which include radiotherapy, chemotherapy, laser therapy (using CO2), and photodynamic therapy
• Counseling may be provided to help with stress and anxiety
• Post-operative care is important: One must maintain minimum activity levels, until the surgical wound heals

Follow-up care with regular screening and check-ups are important, since the tumor is known to recur in many cases.

How can Primary Cutaneous Extramammary Paget’s Disease be Prevented?

The exact cause of Primary Cutaneous Extramammary Paget’s Disease is not known, and hence, no preventive methods have been reported for this condition. Nevertheless, maintaining a healthy lifestyle can possibly help one avoid/delay the onset of the condition.

The following tips may be helpful:

• Maintain healthy lifestyle habits
• Lead an active life
• Eat a healthy diet
• Limit alcohol consumption and avoid smoking

What is the Prognosis of Primary Cutaneous Extramammary Paget’s Disease? (Outcomes/Resolutions)

• With early diagnosis and prompt treatment, the prognosis for a majority of individuals with Primary Cutaneous Extramammary Paget’s Disease is reported to be good
• Even though the recurrence rate is around 30%, tumor spread is very uncommon. 1 in 10 individuals may develop invasive adenocarcinomas. In such cases, the stage of the tumor and extent of spread might determine the outcome
• Perianal EMPD is more commonly associated with an internal malignancy than vulvar EMPD. The rate of association can vary from between 15-33% for all cutaneous EMPD

Additional and Relevant Useful Information for Primary Cutaneous Extramammary Paget’s Disease:

Extramammary Paget’s disease has been sub-classified into the following categories:

• Type 1a – Primary Cutaneous Extramammary Paget’s Disease: In this type, the Paget’s disease occurs in the epidermis of skin, or it involves the sweat glands associated with the skin (namely the apocrine, eccrine, or sebaceous sweat glands)
• Type 1b – Primary Cutaneous Extramammary Paget’s Disease: In this type, the Paget’s disease is associated with either adenocarcinoma in situ or with invasive Paget’s disease
• Type 2 – Extramammary Paget’s Disease: In this type, the Paget’s disease occurs in association with underlying adenocarcinoma of anus or rectum
• Type 3 – Extramammary Paget’s Disease: In this type, the Paget’s disease occurs in association with the underlying adenocarcinoma of anus or rectum, and underlying bladder adenocarcinoma