Literature DB >> 32190447

A Case of Birt-Hogg-Dubé Syndrome and Multiple Intracranial Aneurysms.

Nikhil K Murthy1, Matthew B Potts1, Babak Jahromi1.   

Abstract

Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant condition that is associated with fibrofolliculomas, pulmonary cysts, renal cysts, and renal cancer. There have been few reports in the literature of intracranial vascular pathology in patients with BHD syndrome, and intracranial vascular pathology is currently not a part of the diagnostic criteria. Given the rarity of this disease, there has not been enough evidence for a definitive link between BHD syndrome and intracranial vascular abnormalities. We present a case of a patient with BHD syndrome and multiple cerebral aneurysms.
Copyright © 2020, Murthy et al.

Entities:  

Keywords:  birt-hogg-dube syndrome; cerebral aneurysm; flcn; folliculin; matrix metalloproteinase-9; mmp-9

Year:  2020        PMID: 32190447      PMCID: PMC7058392          DOI: 10.7759/cureus.6884

Source DB:  PubMed          Journal:  Cureus        ISSN: 2168-8184


  10 in total

1.  Matrix metalloproteinase-9 in cerebral aneurysms.

Authors:  S C Kim; M Singh; J Huang; C J Prestigiacomo; C J Winfree; R A Solomon; E S Connolly
Journal:  Neurosurgery       Date:  1997-09       Impact factor: 4.654

2.  Mutations in a novel gene lead to kidney tumors, lung wall defects, and benign tumors of the hair follicle in patients with the Birt-Hogg-Dubé syndrome.

Authors:  Michael L Nickerson; Michelle B Warren; Jorge R Toro; Vera Matrosova; Gladys Glenn; Maria L Turner; Paul Duray; Maria Merino; Peter Choyke; Christian P Pavlovich; Nirmala Sharma; McClellan Walther; David Munroe; Rob Hill; Eamonn Maher; Cheryl Greenberg; Michael I Lerman; W Marston Linehan; Berton Zbar; Laura S Schmidt
Journal:  Cancer Cell       Date:  2002-08       Impact factor: 31.743

3.  Expression of Birt-Hogg-Dubé gene mRNA in normal and neoplastic human tissues.

Authors:  Michelle B Warren; Carlos A Torres-Cabala; Maria L Turner; Maria J Merino; Vera Y Matrosova; Michael L Nickerson; Wenbin Ma; W Marston Linehan; Berton Zbar; Laura S Schmidt
Journal:  Mod Pathol       Date:  2004-08       Impact factor: 7.842

Review 4.  FLCN: The causative gene for Birt-Hogg-Dubé syndrome.

Authors:  Laura S Schmidt; W Marston Linehan
Journal:  Gene       Date:  2017-09-29       Impact factor: 3.688

Review 5.  Hypoxia-inducible factor pathway and diseases of the vascular wall.

Authors:  Chung S Lim; Serafim Kiriakidis; Ann Sandison; Ewa M Paleolog; Alun H Davies
Journal:  J Vasc Surg       Date:  2013-04-30       Impact factor: 4.268

6.  Birt-Hogg-Dubé syndrome and intracranial vascular pathologies.

Authors:  Rahul Kapoor; Alexander I Evins; Diala Steitieh; Antonio Bernardo; Philip E Stieg
Journal:  Fam Cancer       Date:  2015-12       Impact factor: 2.375

7.  Absence of the Birt-Hogg-Dubé gene product is associated with increased hypoxia-inducible factor transcriptional activity and a loss of metabolic flexibility.

Authors:  R S Preston; A Philp; T Claessens; L Gijezen; A B Dydensborg; E A Dunlop; K T Harper; T Brinkhuizen; F H Menko; D M Davies; S C Land; A Pause; K Baar; M A M van Steensel; A R Tee
Journal:  Oncogene       Date:  2010-11-08       Impact factor: 9.867

8.  The tumor suppressor folliculin regulates AMPK-dependent metabolic transformation.

Authors:  Ming Yan; Marie-Claude Gingras; Elaine A Dunlop; Yann Nouët; Fanny Dupuy; Zahra Jalali; Elite Possik; Barry J Coull; Dmitri Kharitidi; Anders Bondo Dydensborg; Brandon Faubert; Miriam Kamps; Sylvie Sabourin; Rachael S Preston; David Mark Davies; Taren Roughead; Laëtitia Chotard; Maurice A M van Steensel; Russell Jones; Andrew R Tee; Arnim Pause
Journal:  J Clin Invest       Date:  2014-04-24       Impact factor: 14.808

9.  Tumor suppressor FLCN inhibits tumorigenesis of a FLCN-null renal cancer cell line and regulates expression of key molecules in TGF-beta signaling.

Authors:  Seung-Beom Hong; HyoungBin Oh; Vladimir A Valera; Jaime Stull; Duy-Tan Ngo; Masaya Baba; Maria J Merino; W Marston Linehan; Laura S Schmidt
Journal:  Mol Cancer       Date:  2010-06-23       Impact factor: 27.401

Review 10.  Birt-Hogg-Dubé syndrome: a case report and a review of the literature.

Authors:  Dea Kejlberg Jensen; Anders Villumsen; Anne-Bine Skytte; Mia Gebauer Madsen; Mette Sommerlund; Elisabeth Bendstrup
Journal:  Eur Clin Respir J       Date:  2017-02-20
  10 in total

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