title: Syndrome of Birt-Hogg-Dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases.
abstract: Birt-Hogg-Dubé Syndrome (BHD) is a rare condition, transmitted as an autosomal-dominant trait. The etiology is due to a mutation in the BHD gene, which encodes folliculin (FLCN), located on chromosome 17p. The skin changes observed are benign skin tumors consisting of hamartomas of the hair follicle with dermal changes. Patients with BHD have an increased risk of spontaneous pneumothorax due to rupture of lung cysts and an increased risk of kidney tumors. We report 3 new cases of BHD and discuss their clinical features, histopathological findings, and molecular diagnostics. We highlight the importance of genetic analysis to confirm the diagnosis because of the clinical pitfalls involved in establishing a diagnosis. Finally, we discuss the histopathological features in BHD and tuberous sclerosis complex and focus on their overlapping criterias. A correct diagnosis is essential as it can be life saving for patients.
authors.affiliation: Dermatology Unit, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. philipp.spring@chuv.ch
authors.forename: Philipp
authors.initials: P
authors.lastname: Spring
authors.forename: Florence
authors.initials: F
authors.lastname: Fellmann
authors.forename: Sophie
authors.initials: S
authors.lastname: Giraud
authors.forename: Helena
authors.initials: H
authors.lastname: Clayton
authors.forename: Daniel
authors.initials: D
authors.lastname: Hohl
mesh_terms: D058249:Birt-Hogg-Dube Syndrome / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics; D014402:Tuberous Sclerosis / Q000175:diagnosis*; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C476078:FLCN protein, human; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins