NDLI: Birt–Hogg–Dubé syndrome and intracranial vascular pathologies

Content Provider	SpringerLink
Author	Kapoor, Rahul Evins, Alexander I. Steitieh, Diala Bernardo, Antonio Stieg, Philip E.
Copyright Year	2015
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.
Starting Page	595
Ending Page	597
Page Count	3
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	14
Issue Number	4
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2015-05-08
Publisher Place	Dordrecht
Access Restriction	Subscribed
Subject Keyword	Birt–Hogg–Dubé Aneurysm Arteriovenous malformation Genetic disorder Cancer Research Human Genetics Epidemiology Biomedicine general
Content Type	Text
Resource Type	Article
Subject	Genetics (clinical) Genetics Oncology Cancer Research

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