A true epidermotropic apocrine neoplasm in the form of perianal Paget’s disease: a case report

INTRODUCTION: Extramammary Paget’s disease is an uncommon intraepithelial neoplasm that arises in areas rich in apocrine glands. Treatment includes wide surgical excision and nonsurgical modalities. We present the case of a patient with perianal Paget’s disease with no recurrent disease after wide surgical resection. CASE PRESENTATION: Our patient was a 46-year-old man of Macedonian ethnicity who presented with a pruritic perianal lesion measuring up to 6cm without pain or bleeding. Two biopsies and a perianal wide surgical excision were performed. The tissue specimens were formalin-fixed and the paraffin-embedded samples analyzed according to standard histochemical and immunohistochemical procedures. Surgical perianal skin excision revealed diffuse eczematoid, whitish plaques. Pathohistology showed Paget cells infiltrating his epidermis and adnexal epithelium, with ulceration. Immunohistochemical analysis revealed positive Paget cell expression for cytokeratin 7, epithelial membrane antigen, carcinoembryonic antigen, androgen receptor and human epidermal growth factor receptor 2, and negative expression for cytokeratin 20 and melan-A. CONCLUSION: Paget’s disease is a rare disorder that should be considered in the differential diagnosis of perianal lesions. Reporting cases of extramammary Paget’s disease is crucial for diagnostic guidelines and different therapeutic options.