Fibrofolliculoma/trichodiscoma & Birt- Hogg-Dubè syndrome

Birt- Hogg-Dubè syndrome (BHDS) is a rare autosomal dominant disease, characterized by internal manifestations (as visceral malignancies, pulmonary cysts, recurrent pneumothorax) and cutaneous lesions. Fibrofolliculomas (FF) and trichodiscomas (TD) are the main skin manifestations of BHDS, a recognition of these cutaneous lesions could determine a rapid diagnosis of this rare syndrome and the relative associated complications. Dermoscopically, FF is mainly characterized by the presence of a whitish homogeneous pattern, with typical follicular openings; while TD is characterized by firm and small papules, with unspecific dermoscopic features, without showing the demarcated area of pallor and the central follicular openings. Recently, a new skin lesion associated with BHDS have been described, named angiomatous nodules. However, the low number of cases present in literature limits the reproducibility of these dermoscopic features in the daily clinical practice.