title: Birt-Hogg-Dubé syndrome and intracranial vascular pathologies.
abstract: Birt-Hogg-Dubé syndrome, first described in 1977, is a rare autosomal dominant condition that commonly presents with skin lesions, including fibrofolliculomas and trichodiscomas; pulmonary cysts; spontaneous pneumothoraces; and renal cancer. We present the only known cases of intracranial vascular pathologies in patients with Birt-Hogg-Dubé syndrome. We present three cases (three female; age range 18-50) of intracranial vascular lesions in Birt-Hogg-Dubé patients, including two aneurysms and one arteriovenous malformation, and review one previously reported case of carotid aplasia. Due to the rarity of Birt-Hogg-Dubé syndrome and significant variations in its clinical presentation, it is difficult to assess whether or not Birt-Hogg-Dubé patients are predisposed to intracranial vascular pathologies. We hypothesize that increased transcription of hypoxia-inducible factor 1-alpha, resulting from a mutated form of the protein folliculin transcribed by the Birt-Hogg-Dubé gene, may be associated with vascular pathogenesis in Birt-Hogg-Dubé patients and thus provide a possible molecular basis for a link between these two conditions.
authors.affiliation: Department of Neurological Surgery, Weill Cornell Medical College/New York Presbyterian Hospital, Box 99, 525 East 68th Street, New York, NY, 10065, USA.
authors.forename: Rahul
authors.initials: R
authors.lastname: Kapoor
authors.affiliation: Department of Neurological Surgery, Weill Cornell Medical College/New York Presbyterian Hospital, Box 99, 525 East 68th Street, New York, NY, 10065, USA. ale2009@med.cornell.edu.
authors.forename: Alexander I
authors.identifier: http://orcid.org/0000-0002-6309-6922
authors.initials: AI
authors.lastname: Evins
authors.affiliation: Department of Neurological Surgery, Weill Cornell Medical College/New York Presbyterian Hospital, Box 99, 525 East 68th Street, New York, NY, 10065, USA.
authors.forename: Diala
authors.initials: D
authors.lastname: Steitieh
authors.affiliation: Department of Neurological Surgery, Weill Cornell Medical College/New York Presbyterian Hospital, Box 99, 525 East 68th Street, New York, NY, 10065, USA.
authors.forename: Antonio
authors.initials: A
authors.lastname: Bernardo
authors.affiliation: Department of Neurological Surgery, Weill Cornell Medical College/New York Presbyterian Hospital, Box 99, 525 East 68th Street, New York, NY, 10065, USA.
authors.forename: Philip E
authors.initials: PE
authors.lastname: Stieg
mesh_terms: D000293:Adolescent; D000328:Adult; D058249:Birt-Hogg-Dube Syndrome / Q000150:complications* / Q000473:pathology; D002561:Cerebrovascular Disorders / Q000209:etiology* / Q000473:pathology*; D005260:Female; D006801:Humans; D008875:Middle Aged; D011379:Prognosis
keywords: Aneurysm; Arteriovenous malformation; Birt–Hogg–Dubé; Genetic disorder