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Fam Cancer. 2015 Dec;14(4):595-7. doi: 10.1007/s10689-015-9807-y.

Birt-Hogg-Dubé syndrome and intracranial vascular pathologies.

Author information

1
Department of Neurological Surgery, Weill Cornell Medical College/New York Presbyterian Hospital, Box 99, 525 East 68th Street, New York, NY, 10065, USA.
2
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.

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.

KEYWORDS:

Aneurysm; Arteriovenous malformation; Birt–Hogg–Dubé; Genetic disorder

PMID:
25952757
DOI:
10.1007/s10689-015-9807-y
[Indexed for MEDLINE]

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