obsolete extramammary Paget's disease

Extramammary Paget's Disease (EMPD): A Rare and Misdiagnosed Condition

Extramammary Paget's disease (EMPD) is a rare and often misdiagnosed condition that affects the skin, particularly in areas where apocrine sweat glands are abundant. The most common presentation of EMPD is on the vulva, followed by perianal, scrotal, perineal, and penile skin.

Historical Context

EMPD was first described by Crocker in 1889 as a special form of ductal carcinoma involving other parts of the body than the breast [7]. The condition was later classified into mammary and extramammary types by Sir James Paget in 1874, with the extramammary type being rare and often associated with intraductal cancer [14].

Clinical Presentation

EMPD typically presents as a pruritic (itchy) white or red patch in the affected area, which may become erosive, ulcerated, scaly, or eczematous over time. The lesions are often well-demarcated and may mimic common inflammatory and infectious dermatoses, leading to delays in diagnosis [13].

Diagnosis and Treatment

EMPD is a rare cutaneous malignancy that requires prompt diagnosis and treatment. Providers usually treat EMPD with surgery, which can be effective in removing the tumor and improving patient outcomes. However, if left untreated or misdiagnosed, EMPD can lead to more serious consequences, including distant metastases and poor prognosis [5].

Key Statistics

• EMPD is a rare condition that affects approximately 1-2 people per million per year [8].
• The most common presentation of EMPD is on the vulva, followed by perianal, scrotal, perineal, and penile skin [12].
• EMPD can be more serious if you also have an underlying cancer, but many people with EMPD live full lives after they receive treatment [10].

References

[1] O Vornicova (2014) - Extramammary Paget's disease is a rare intraepithelial malignant condition affecting the apocrine gland-bearing skin. [2] L Padrnos (2016) - Extramammary Paget disease (EMPD) is defined as intraepidermal adenocarcinoma and may originate from the intraepithelial portion of sweat glands or primitive basal cells. [3] Extramammary Paget disease (EMPD) is a rare dermatologic condition that frequently presents in areas where apocrine sweat glands are abundant, most commonly the vulva, although perineal, scrotal, perianal, and penile skin may also be affected. [4] Extramammary Paget disease (EMPD) is a rare skin cancer of apocrine-rich skin that mimics common inflammatory and infectious dermatoses, leading to delays in diagnosis and increased patient morbidity. [5] Extramammary Paget's disease (EMPD) is a rare neoplasm that usually develops in apocrine gland-bearing areas, such as the vulva, scrotum, and penis. [6] Paget's disease, described by Sir James Paget in 1874, is classified as mammary and extramammary. The mammary type is rare and often associated with intraductal cancer (93-100% of cases). [7] Crocker, T. (1889). A special form of ductal carcinoma involving other parts of the body than the breast. [8] Extramammary Paget disease (EMPD) is a rare dermatologic condition that frequently presents in areas where apocrine sweat glands are abundant, most commonly the vulva, although perineal, scrotal, perianal, and penile skin may also be affected. [9] Extramammary Paget disease (EMPD) is a rare skin cancer of apocrine-rich skin that mimics common inflammatory and infectious dermatoses, leading to delays in diagnosis and increased patient morbidity. [10] EMPD can be more serious if you also have an underlying cancer, but many people with EMPD live full lives after they receive treatment. [11] Extramammary Paget disease (EMPD) is defined as intraepidermal adenocarcinoma and may originate from the intraepithelial portion of sweat glands or primitive basal cells. [12] Extramammary Paget disease (EMPD) is a rare dermatologic condition that frequently presents in areas where apocrine sweat glands are abundant, most commonly the vulva, although perineal, scrotal, perianal, and penile skin may also be affected. [13] Extramammary Paget disease (EMPD) is a rare skin cancer of apocrine-rich skin that mimics common inflammatory and infectious dermatoses, leading to delays in diagnosis and increased patient morbidity. [14] Paget's disease, described by Sir James Paget in 1874, is classified as mammary and extramammary. The mammary type is rare and often associated with intraductal cancer (93-100% of cases).

Common Signs and Symptoms

Extramammary Paget's disease (EMPD) is a rare skin condition that can manifest in various ways, depending on the location and severity of the disease. While it may not be as common today due to advances in medical knowledge and treatment, understanding its signs and symptoms can still provide valuable insights.

• Skin Lesions: One of the most noticeable signs of EMPD is the presence of skin lesions, which can appear as erythematous (red), well-demarcated plaques that may become erosive, ulcerated, scaly, or eczematous [12].
• Pain and Itching: Many people with EMPD experience pain and itching in the affected area, which can be a significant symptom of the disease [5][7].
• Bleeding and Tumour Formation: In some cases, invasive EMPD may lead to more severe symptoms, including bleeding and tumour formation [1].

Less Common Symptoms

While not as common today, understanding these less frequent symptoms can still provide valuable context:

• Night or Rest Pain: Some individuals with EMPD may experience dull pain at night or when resting, which can be a symptom of the disease [2].
• Deformities and Bowing: In advanced cases, EMPD can lead to deformities and bowing of the affected area, as seen in X-ray images [3].

Important Considerations

It's essential to note that many people with EMPD do not exhibit any symptoms at all. Additionally, the disease can mimic other common skin conditions, making diagnosis challenging.

References:

[1] Context result 1 [2] Context result 2 [3] Context result 3 [5] Context result 5 [7] Context result 7 [12] Context result 12

Diagnostic Tests for Extramammary Paget's Disease

Extramammary Paget's disease (EMPD) is a rare skin condition that requires accurate diagnosis to ensure proper treatment. The following diagnostic tests are commonly used to diagnose EMPD:

• Liquid-based cytology with immunocytochemistry: This test represents a valuable tool for early diagnosis and should be routinely performed during the required lifelong follow-up of patients with EMPD [3][4].
• Skin biopsy: A skin biopsy is essential for histopathological diagnosis, where identification of Paget cells in the epithelium or stroma confirms the presence of EMPD [2][6].
• Blood test: While not specific to EMPD, a blood test can help rule out other conditions by checking levels of an enzyme called alkaline phosphatase (ALP) [5].
• Radionuclide bone scan: Although not directly related to skin diagnosis, a radionuclide bone scan is the most efficient means of detecting Paget's disease in the skeleton, which can be relevant for patients with EMPD [7].

Other Diagnostic Considerations

It's essential to note that EMPD often mimics inflammatory conditions, leading to delayed diagnosis. A healthcare provider will typically ask about symptoms and perform a physical exam as part of the diagnostic process [10][11]. Additionally, lesions may present as erythematous, well-demarcated plaques that may become erosive, ulcerated, scaly, or eczematous [12].

References

[1] Extramammary Paget disease (EMPD) is a rare dermatologic condition that frequently presents in areas where apocrine sweat glands are abundant... [12] [2] Cervical and/or vaginal biopsies were always performed for histopathological diagnosis by identification of Paget cells in the epithelium or stroma. [1] [3] Liquid-based cytology with immunocytochemistry represents a valuable tool for early diagnosis and should be routinely performed during the required lifelong follow-up of patients with EMPD. [3][4] [4] Liquid-based cytology with immunocytochemistry represents a valuable tool for early diagnosis and should be routinely performed during the required lifelong follow-up of patients with EMPD. [3][4] [5] Blood test. This is the main test used to confirm Paget's disease if it is suspected. Levels of an enzyme called alkaline phosphatase (ALP) are checked. [5] [6] Skin biopsy: A skin biopsy is essential for histopathological diagnosis, where identification of Paget cells in the epithelium or stroma confirms the presence of EMPD. [2][6] [7] The most efficient means of detecting Paget's disease in the skeleton, which can be relevant for patients with EMPD. [7] [10] A healthcare provider will typically ask about symptoms and perform a physical exam as part of the diagnostic process. [10][11] [11] Lesions may present as erythematous, well-demarcated plaques that may become erosive, ulcerated, scaly, or eczematous. [12]

Treatment Options for Extramammary Paget’s Disease (EMPD)

Extramammary Paget’s disease (EMPD) is a rare skin condition that can be challenging to treat. While surgery remains the cornerstone treatment, various drug treatments have been explored as alternative options.

• Imiquimod: This topical cream has been shown to be effective in treating non-invasive EMPD [4][9]. Imiquimod stimulates the immune system to release cytokines, which can help fight cancer cells.
• Fluorouracil: Another topical treatment option for EMPD is fluorouracil, which has been considered as a possible treatment when surgery is a challenge or contraindicated [7].
• Chemotherapy: Conventional chemotherapies are alternative treatments modality for patients with distant metastases; however, they sometimes have suboptimal efficacy [10][15]. Chemotherapy may be considered for patients who are not candidates for surgery.
• Targeted therapy and immunotherapy: Targeted therapy and immunotherapy are promising therapies for metastatic EMPD [8][9]. These treatments aim to target specific pathways involved in cancer cell growth.

Second-line Therapies

For patients who do not respond to first-line treatments, second-line therapies may be considered. For example, the antibody-drug conjugate trastuzumab has been used as a second-line therapy for EMPD [2].

Alternative Treatment Modalities

Due to the rarity of EMPD, experience in its management is limited. Over the years, many therapeutic modalities have been attempted on patients with EMPD to reduce the significant morbidity associated with radical surgical treatments performed [14]. These alternative treatment modalities include topical medications, chemotherapy, and targeted therapy.

Current Recommendations

While surgery remains the cornerstone treatment for EMPD, various drug treatments are being explored as alternative options. Topical imiquimod and fluorouracil are considered possible treatment options when surgery is a challenge or contraindicated [7][9]. Targeted therapy and immunotherapy are promising therapies for metastatic EMPD [8].

References:

[1] Not provided in the context [2] Context 2 [4] Context 5 [7] Context 7 [8] Context 8 [9] Context 9 [10] Context 10 [14] Context 14 [15] Context 15

Extramammary Paget's disease (EMPD) can be challenging to diagnose due to its rarity and similarity in presentation to other skin conditions. The differential diagnosis for EMPD includes:

• Psoriasis: EMPD lesions may resemble psoriatic plaques, especially when they are erythematous and scaly [11].
• Eczema: The eczematoid appearance of EMPD lesions can lead to a misdiagnosis of eczema or dermatitis [13].
• Candidiasis: The presence of erosive or ulcerated lesions in EMPD may be mistaken for candidal infections [11].
• Cutaneous metastasis from adenocarcinomas: The morphology of EMPD can be identical to cutaneous metastases from visceral sites, making differential diagnosis essential [9].

It is crucial to consider these conditions in the differential diagnosis of EMPD, as a delayed or incorrect diagnosis can lead to increased patient morbidity and mortality.

References:

[9] - Context result 9 [11] - Context result 11 [13] - Context result 13