Extramammary Paget Disease: A Review of the Literature—Part I: History, Epidemiology, Pathogenesis, Presentation, Histopathology, and Diagnostic Work-up

Abstract

BACKGROUND Extramammary Paget disease (EMPD) is a rare malignancy with unclear pathophysiology that occurs predominantly on apocrine rich skin. Surgery is the treatment of choice; however, procedures tend to be extensive and associated with a high rate of recurrence. OBJECTIVE To review the current literature on EMPD regarding epidemiology, pathogenesis, clinical presentation, histology, diagnostic work-up, treatment, and prognosis. MATERIALS AND METHODS Literature review using PubMed search for articles related to EMPD. RESULTS Extramammary Paget disease classically presents as a slowly growing red plaque, which often mimics an inflammatory condition leading to significant delay in diagnosis. Diagnosis requires histopathologic examination and is often supported by immunohistochemical analysis. Once a diagnosis of EMPD is made, the patient must be risk-stratified and evaluated for an underlying malignancy. CONCLUSION Standard of treatment is surgery, with data suggesting that Mohs micrographic surgery may have superior clinical outcomes and lower recurrence rates. Alternatives such as photodynamic therapy and topicals have been explored and may be appropriate in certain situations. Patients with EMPD generally have a good prognosis with a 5-year overall survival rate of 75% to 95%.

Mucosal Invasion, but Not Incomplete Excision, Has Negative Impact on Long-Term Survival in Patients With Extramammary Paget’s Disease

“…It commonly affects areas rich in apocrine sweat glands, including the vulva, perineal area, perianal area, scrotal area, and penile skin (1,2). EMPD typically affects Caucasian females and Asian males older than 60 years (3)(4)(5)(6)(7). Most EMPD tumors are restricted to the epidermis as in situ lesions, and they are associated with good prognosis because of their slow-growing nature (1,8).…”

Extramammary Paget disease: five perianal case report and treatment options

“…Paget cells can metastasize horizontally or vertically [ 9 ]. Negative macroscopic margins > 1 cm with sphincter retention are associated with a higher survival rate than local excision [ 10 ].…”

Enfermedad de Paget extramamaria perianal

“…Se clasifica en mamaria y extramamaria, con base en su ubicación anatómica, y en primaria y secundaria, en relación con la presencia o ausencia de neoplasia subyacente (2) . Es una enfermedad poco frecuente, cuya incidencia varía entre 0,1 y 2,4 pacientes por cada 1.000.000 de personas/año (7) .…”

“…En la enfermedad de Paget extramamaria primaria se ha discutido que puede surgir de células pluripotenciales en la epidermis y/o anexos (posiblemente glándulas sudoríparas o folículos pilosos) (2) y también se ha postulado el origen en las células de Toker, que son células claras relacionadas con la glándula mamaria, que se encuentran en el pezón y la vulva (7) . En cuanto a la secundaria, se acepta que se debe a la extensión directa de un carcinoma originado en los órganos adyacentes (3) .…”