Extramammary Paget Disease Workup
- Author: Neil Sandhu, MD; Chief Editor: Dirk M Elston, MD more...
The diagnosis of extramammary Paget disease (EMPD) requires a high degree of clinical suspicion followed by skin biopsy with pathologic correlation. Initially, a detailed review of systems and physical examination should be performed in all patients. The examination should include the following:
Full skin examination
Palpation of all lymph nodes
Additionally, women require pelvic examination with a Papanicolaou test, breast examination, and colposcopy.
Imaging studies in EMPD should be directed by the anatomic location of the involved skin and the sex of the patient. Imaging studies should be used to augment physical and endoscopic examination in assessing possible undetected internal malignancy.
Positron emission tomography (PET) may be helpful in assessing regional lymph nodes and locating distal disease, especially in patients with dermal invasion noted on initial skin biopsy specimens.
Skin Biopsy and Histologic Findings
Because EMPD extends beyond the visibly involved margins, obviously involved skin should be examined by using transverse frozen sections or serial vertical sections. Perform skin biopsy to evaluate possible EMPD in patients in whom ongoing therapy is ineffective. See the image below.
The epidermis is diffusely infiltrated with large vacuolated cells that have a bluish cytoplasm; these are called Paget cells. These distinctive cells are found in the lower epidermis and may proliferate to the rete ridges and adnexa. The epidermis shows varying degrees of acanthosis, hyperkeratosis, and parakeratosis. With histochemical analysis, Paget cells are stained with sialomucin by using periodic acid–Schiff (PAS) followed by diastase digestion.
It is important to keep in mind the differential diagnosis of tumors with an epidermotropic growth pattern and the importance of immunohistochemical staining in the histologic workup of such tumors. The following should all be considered :
Squamous cell carcinoma in situ
Sebaceous carcinoma of the eyelid
Mammary Paget disease (PD) and EMPD
Merkel cell carcinoma
Cytokeratin 20 (CK20) and BRST-2 are both positive in large subsets of primary and secondary EMPD. Using HER2/neu and CDX2 may be beneficial to distinguish primary EMPD from secondary EMPD due to anorectal adenocarcinoma but not due to urothelial or prostatic malignancy.
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