Dermoscopic Features of Birt-Hogg-Dube Syndrome

Abstract

W E 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). InitiallydescribedbyBirt et al, fibrofolliculomasare the hallmarkofBHDsyndrome.Togetherwith trichodiscomas and acrochordons, they form the triad of cutaneous lesions seen in this condition, which is also associated with an increased risk of pulmonary cysts, spontaneous pneumothorax, and renal carcinoma. Onset, typically in adulthood, is characterized by asymptomatic papules that primarily involve the head, neck, chest, back, and arms and often have a central hair. In conclusion, fibrofolliculomas have reproducible dermoscopic features which, if multiple, should prompt consideration of a diagnosis of BHD syndrome as well as monitoring for associated complications.