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Dermoscopic Features of Birt-Hogg-Dube Syndrome

Rachael Jarrett, BMBCh; Lisa Walker, BMBCh, BSc, DPhil, MRCPCH; Lucy Side, MRCP, MD; Jonathan Bowling, MBChB, MRCP
Arch Dermatol. 2009;145(10):1208. doi:10.1001/archdermatol.2009.211.
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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).

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Dermoscopic features of Birt-Hogg-Dube syndrome. Arch Dermatol 2009;145(10):1208.