JAMES M.GRICHNIKMD, PhD
We describe 3 patients with confirmed mutations in the folliculin gene to illustrate the dermoscopic features of Birt-Hogg-Dube (BHD) syndrome. Physical examination revealed that all 3 patients had multiple, firm, pale facial papules on examination (Figure 1 [case 1, 50-year-old woman], Figures 2 and 3 [case 2, 55-year-old woman], and Figure 4 [case 3, 37-year-old man]). Each lesion showed well-demarcated areas of pallor with central follicular opening on dermoscopy (Figures 5 [case 1], 6 [case 2], and 7 [case 3]). Histologic examination showed trabeculae of squamous cells, with horn cysts and clear cells, intervening loose spindle cell stroma, and surrounding fibrosis, in keeping with fibrofolliculoma (Figure 8).
Jarrett R, Walker L, Side L, Bowling J. Dermoscopic Features of Birt-Hogg-Dube Syndrome. Arch Dermatol. 2009;145(10):1208. doi:10.1001/archdermatol.2009.211