Birt–Hogg–Dubé syndrome and intracranial vascular pathologies

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.
Source: Familial Cancer - Category: Cancer & Oncology Source Type: research