title: Birt-Hogg-Dubé syndrome: a review of the literature and the differential diagnosis of firm facial papules.
abstract: Birt-Hogg-Dubé syndrome (BHDS) was originally described in 1977 as the grouping of 3 skin tumors-the fibrofolliculoma, trichodiscoma, and acrochordon-in family members with an autosomal dominant inheritance pattern. In recent years it has become clear that these 3 lesions likely represent only 1 of these tumors, the fibrofolliculoma. More important, evidence now supports a definite susceptibility to malignant renal tumors and pulmonary disease in patients with BHDS. Clinical recognition of this entity is possible in spite of the fact that several syndromes exist that are characterized by the presence of multiple firm facial papules. We will discuss the evolution of BHDS from the original description to the recent discovery of the genetic susceptibility locus, illustrate the clinical differential diagnosis, and highlight the workup needed for newly diagnosed patients and their family members.
mesh_terms: D003937:Diagnosis, Differential; D005153:Facial Neoplasms / Q000175:diagnosis*; D018859:Hair Follicle / Q000473:pathology; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis*; D006801:Humans; D012878:Skin Neoplasms / Q000175:diagnosis*; D013577:Syndrome