eMedicine Specialties > Dermatology > Malignant Neoplasms
Paget Disease, Extramammary
Updated: Dec 3, 2009
Introduction
Background
Radcliffe Crocker first recognized and reported extramammary Paget disease (EMPD) as a distinct clinical entity in 1889. Extramammary Paget disease is morphologically and histologically identical to mammary Paget disease of the nipple, which James Paget had described 15 years earlier. The primary difference is the anatomic location. Crocker described a patient with erythematous patches on his penis and scrotum. Since he made this distinction, the term extramammary Paget disease is more commonly used to describe the condition in women. This process targets the genital skin, perianal skin, and other cutaneous sites rich in apocrine glands. Extramammary Paget disease is not a common disorder, but it must be considered in the differential diagnosis of patients with chronic genital or perianal dermatitis.
Pathophysiology
Extramammary Paget disease (EMPD) arises as a primary cutaneous adenocarcinoma in most cases. The epidermis becomes infiltrated with neoplastic cells showing glandular differentiation. Tumor cells may originate from apocrine gland ducts or from keratinocytic stem cells.
Approximately 25% of the cases of extramammary Paget disease (range, 9-32%) are associated with an underlying in situ or invasive neoplasm. In all patients, the neoplasm most likely to be associated with extramammary Paget disease is an adnexal apocrine carcinoma. This associated neoplasm probably represents infiltration of the deeper adnexa by epidermal Paget cells. In addition to cutaneous adnexal carcinoma, other associated malignancies include the following: carcinoma of the Bartholin glands, urethra, bladder, vagina, cervix, endometrium, or prostate.
The anatomic location of extramammary Paget disease plays a role in predicting the risk of associated carcinoma. For instance, about 4-7% of patients with genital disease have an associated carcinoma. Perianal disease is associated with underlying colorectal carcinoma in 25-35% of cases.
Rare cases of extramammary Paget disease associated with tumors arising in distant organs without direct epithelial connection to the affected epidermis have been reported. Roy et al reported Paget disease in a retrorectal dermoid cyst.1 No clear evidence supports a causal link between these distant tumors and cutaneous extramammary Paget disease.
Frequency
International
Extramammary Paget disease is a rare condition with only several hundred cases in the world literature.
Mortality/Morbidity
- The course of extramammary Paget disease may last 10-15 years without evidence of cancer or metastases.
- In a minority of patients, tumor cells infiltrate the dermis, adnexa, or lymph nodes. Both mortality and morbidity rates are increased in these patients because of the extensive surgical treatment and/or chemotherapy that they need.
- One study showed a mortality rate of 18% for patients without associated carcinoma and 46% for those with underlying carcinoma.
Race
Extramammary Paget disease is most commonly reported in white patients, but it may occur in other races.
Sex
Women are more commonly affected by extramammary Paget disease than men. The female-to-male ratio was 4.5:1 in one series of 55 patients and 3:1 in another series of 197 patients.2
Age
Extramammary Paget disease most commonly appears in individuals aged 50-60 years.
Clinical
History
Most patients with extramammary Paget disease have only pruritus in the affected area and no other symptoms.
- Patients with extramammary Paget disease (EMPD) usually present with a nonresolving eczematous lesions in the groin, genitalia, perineum, or perianal area.3
- The most common symptom of extramammary Paget disease is intense pruritus.
- Pain and bleeding may occur in longer-standing lesions.
Physical
At clinical examination, extramammary Paget disease (EMPD) may appear as chronic intertrigo or presumed tinea cruris. Extramammary Paget disease may appear eczematous, and it has usually been present for a long time before biopsy is performed to confirm the diagnosis.
- The genitalia, perineum, axillae, and external auditory canal are rich in apocrine glands; therefore, these are the usual sites of extramammary Paget disease involvement.
- Early skin changes may be subtle and vary according to location.
- Initially, only slight erythema, crusting, and increased maceration may be noted.
- Pruritus commonly leads to prominent excoriations and lichenification.
- Lesional progression leads to a unilateral sharply marginated plaque with distinct erythema.
- Superficial erosion or scaling may develop in mature lesions.
Causes
- The cause of primary extramammary Paget disease (EMPD) is unknown.
- However, a minority of cases do represent a direct extension of an underlying carcinoma along contiguous epithelium.
More on Paget Disease, Extramammary |
 Overview: Paget Disease, Extramammary |
| Differential Diagnoses & Workup: Paget Disease, Extramammary |
| Treatment & Medication: Paget Disease, Extramammary |
| Follow-up: Paget Disease, Extramammary |
| References |
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References
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Chanda JJ. Extramammary Paget's disease: prognosis and relationship to internal malignancy. J Am Acad Dermatol. Dec 1985;13(6):1009-14. [Medline].
Bagby CM, MacLennan GT. Extramammary Paget's disease of the penis and scrotum. J Urol. Dec 2009;182(6):2908-9. [Medline].
Cho SB, Yun M, Lee MG, Chung KY. Variable patterns of positron emission tomography in the assessment of patients with extramammary Paget's disease. J Am Acad Dermatol. Feb 2005;52(2):353-5. [Medline].
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Marchesa P, Fazio VW, Oliart S, Goldblum JR, Lavery IC, Milsom JW. Long-term outcome of patients with perianal Paget's disease. Ann Surg Oncol. Sep 1997;4(6):475-80. [Medline].
Murata Y, Kumano K, Tani M. Underpants-pattern erythema: a previously unrecognized cutaneous manifestation of extramammary Paget's disease of the genitalia with advanced metastatic spread. J Am Acad Dermatol. Jun 1999;40(6 Pt 1):949-56. [Medline].
Parker LP, Parker JR, Bodurka-Bevers D, et al. Paget's disease of the vulva: pathology, pattern of involvement, and prognosis. Gynecol Oncol. Apr 2000;77(1):183-9. [Medline].
Further Reading
Keywords
extramammary Paget disease, extramammary Paget’s disease, EMPD, intraepidermal adenocarcinoma, mammary Paget disease, mammary Paget's disease, primary cutaneous adenocarcinoma
