Extramammary Paget Disease of Oral Mucosa: Case Report with Literature Review

Abstract

Extramammary Paget disease (EPMD) of the oral mucosa is an unusual and extremely rare condition, with fewer than ten cases documented. Here, we report a case of EMPD extensively involving oral mucosa and underlying salivary ducts in a 72-year-old male and review published clinical, histologic, immunophenotypic, and prognostic features of this rare entity.

Keywords: Extramammary; Oral mucosa; Paget disease.

Fig. 1

Extensive red/white mucosal change of anterior mandibular vestibule and lower lip concerning for lichenoid inflammatory process or dysplasia/carcinoma (a). Squamous mucosa with lymphocytic host response and atypical cells with amphophilic cytoplasm (b, ×40; c, ×400). Atypical cells primarily involve basal/parabasal layers but also demonstrate pagetoid involvement of spinous layer (d, ×200; e, ×200). Paget cells exhibit markedly atypical nuclei with abundant amphophilic cytoplasm (f, ×400)

Fig. 2

Paget cells were CK7 + (a, ×100) while CK5/6- (b, ×100) and p40- (c, ×200). Paget cells were additionally CEA + (d, ×100), Her2 3 + (e, ×100), and p53 + (f, ×200). Arrows highlight Paget cells in c and f

Fig. 3

Paget cells were strongly positive for TRPS1 (right) while background normal stratified squamous epithelium (left) showed weaker nuclear positivity (a and b, ×100)

Fig. 4

Frozen section evaluation of anterior mandible composite resection (a) with shave margin (b, ×100) focally involved by EMPD; uninvolved epithelium present at left. Resection specimen showed extensive involvement of surface epithelium and salivary excretory duct with no invasive adenocarcinoma (c, ×40; d, ×100). Salivary excretory duct showing continuity with surface epithelium and microscopic extension into minor salivary gland upon serial sectioning (e, ×100; f, ×200)

Fig. 5

Extensive intraepithelial and intraductal involvement with no invasive adenocarcinoma (a, ×40; b, ADH5 ×40). Intraductal Paget cells (c, ×200) surrounded by intact rim of myoepithelial cells (d, ADH5 ×200). Intraepithelial disease with focus of adjunct normal epithelium on right (e, ×100; f, ADH5 ×100)