Rare Ophthalmology News

Disease Profile

Extramammary Paget disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adult

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ICD-10

C44.5

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Paget disease, extramammary; EMPD

Categories

Female Reproductive Diseases; Rare Cancers

Summary

Extramammary Paget disease (EMPD) is characterized by a chronic eczema-like rash of the skin around the genital regions of males and females. Under the microscope, this condition looks very similar to a condition that occurs on the breast called mammary Paget disease.[1] The primary difference between the two is the location of the rash. While the location of the rash for individuals with mammary Paget disease is around the nipple and areolar skin, EMPD may occur in the vulva, perianal region, scrotum, penis, and axilla.[2] EMPD most often occurs in women between age 50 to 60. About 25 percent of extramammary Paget disease is associated with an underlying cancer. Treatment typically includes surgery.[1] Prognosis varies depending on how early the disorder was diagnosed and treated as well as the association with an underlying cancer. [2]

Symptoms

The most common symptom of extramammary Paget disease (EMPD) is mild to intense itching of a lesion found around the genital or anal area. Pain and bleeding may result from scratching the lesions. The lesions can become thick, red, scaly, and crusty. In women, the most common affected area is the vulva. The location of extramammary Paget disease is useful in predicting the risk of associated cancer. Approximately 25-35% of EMPD around the anal region is associated with an underlying colorectal cancer.[1]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
Percent of people who have these symptoms is not available through HPO
Eczematoid dermatitis
0000976
Neoplasm
0002664

Cause

The cause of extramammary Paget disease (EMPD) remains unknown. Approximately 25% of cases are associated with an underlying tumor. The type of tumor that is most likely to be associated with this disease is an apocrine carcinoma. Other associated cancers include cutaneous adnexal carcinoma and carcinoma of the Bartholin glands, urethra, bladder, vagina, cervix, endometrium, or prostate. About 4-7% of patients with genital disease have an associated carcinoma. Perianal disease is associated with underlying colorectal cancer in 25-35% of cases.[2]

Diagnosis

The diagnostic process for extramammary Paget disease (EMPD) should begin with a detailed review of systems and physical examination. Initial examinations could additionally include: full skin examination, palpation of all lymph nodes, rectal examination, sigmoidoscopy, cystoscopy.[2]

When EMPD is suspected, the diagnosis is typically confirmed via skin biopsy of the lesion. Under the microscope, the presence of Paget cells along with other specific findings confirms the diagnosis. Special stains may be necessary to distinguish EMPD from early melanoma (melanoma in situ).[1]

Treatment

Extramammary Paget disease (EMPD) is usually treated by surgically removing the skin lesion. It is sometimes difficult to determine how much skin should be removed, particularly when lesions are spread throughout the anogenital region. Because recurrence is common, it is standard for patients to be re-examined every 3 months after surgery for the next 2 years. After 2 years, annual follow-ups are usually recommended.[1][2]

In cases where surgery is not a possibility due to recurrence or location; treatment options reported in the medical literature with varying levels of success include: chemotherapeutic agents such as 5-fluorouracilimiquimod, paclitaxel, trastuzumab, and docetaxel as well as aminolevulinic acid photodynamic therapy, laser ablation, and radiation therapy. Unfortunately, studies regarding the effectiveness of the above treatment options are limited to mainly case studies and small literature reviews with limited follow-up.[1][2][3][4]

Promising studies published recently include a study completed in Japan that reviewed the use of docetaxal as a first-line treatment in 13 individuals with EMPD with metastasis. 12 individuals were found to have a response to treatment with a disease control rate estimated to be 83%. Another promising study reviewed the use of imiquimod in 10 cases of EMPD of the vulva. Complete clinical remission was reported in 9 individuals. The remaining individual had partial remission.[3][4]

There is an ongoing research study focused on evaluating the effectiveness of imiquimod in the treatment of EMPD. To learn more about this trial, please click on the following link through ClinicalTrials.gov
https://clinicaltrials.gov/ct2/results?term=extramammary+paget%27s+disease&recr

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Social Networking Websites

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.

        In-Depth Information

        • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Extramammary Paget disease. Click on the link to view a sample search on this topic.

          References

          1. Extramammary Paget Disease. New Zealand Dermatological Society. September 2015; https://dermnetnz.org/site-age-specific/extra-mammary-paget.html.
          2. Sandu N, Schwartz RA. Extramammary Paget disease. Medscape Reference. October 3, 2014; https://emedicine.medscape.com/article/1100397-overview.
          3. Lauro Lourival Lopes Filho, Lauro Rodolpho Soares Lopes, Alexandre Osores Michalany, Ione Maria Ribeiro, Milvia M.S.S. Enokihara, Nobuo Matsunaga. Mammary and extramammary Paget's disease. Anais Brasileiros Dermatologia. Mar-Apr 2015; 90(2):225-231. https://www-ncbi-nlm-nih-gov.ezproxy.nihlibrary.nih.gov/pmc/articles/PMC4371672/.
          4. Koji Yoshino, Yasuhiro Fujisawa, Yoshio Kiyohara, Takafumi Kadono, Yozo Murata, Hisashi Uhara, Naohito Hatta, Hiroshi Uchi, Shigeto Matsushita, Tatsuya Takenouchi, Toshihiko Hayashi, Kuniaki Ohara. Usefulness of docetaxel as first-line chemotherapy for metastatic extramammary Paget's disease. The Journal of Dermatology. November 25, 2015; 42:1-5. https://www.ncbi.nlm.nih.gov/pubmed/26603144.
          5. Claudia Marchitelli, Maria Sol Peremateu, Maria Celeste Sluga, Maria Teresa Berasategui, Delia Graciela Lopez, Alejandra Wernicke, Andrea Velazco, Sebastian Gogorza. Treatment of Primary Vulvar Paget Disease With 5% Imiquimod Cream. Journal of Lower Genital Tract Disease. October 2014; 18(4):347-350. https://www.ncbi.nlm.nih.gov/pubmed/25259595.

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