Literature DB >> 32476844

Parsimony or poor luck: Concurrent Birt-Hogg- Dubé Syndrome and sarcoidosis.

Brooks Kuhn1, Priyanka Teckchandani1, Richart Harper1.   

Abstract

While sarcoidosis is notorious for myriad manifestations including cystic lung changes, we present a case with both Birt-Hogg-Dubé syndrome (BHD) and pulmonary sarcoidosis. BHD is a rare, autosomal dominant genetic disorder characterized by numerous thin-walled, irregular cysts, but lung function is typically normal otherwise. We present a case with confirmed BHD syndrome and concurrent granulomatous lung disease consistent with sarcoidosis. (Sarcoidosis Vasc Diffuse Lung Dis 2017; 34: 194-196). Copyright:
© 2017.

Entities:  

Keywords:  Birt-Hogg- Dubé Syndrome; cystic lung disease; sarcoidosis

Year:  2017        PMID: 32476844      PMCID: PMC7170139          DOI: 10.36141/svdld.v34i2.5416

Source DB:  PubMed          Journal:  Sarcoidosis Vasc Diffuse Lung Dis        ISSN: 1124-0490            Impact factor:   0.670


  14 in total

1.  The mTOR kinase differentially regulates effector and regulatory T cell lineage commitment.

Authors:  Greg M Delgoffe; Thomas P Kole; Yan Zheng; Paul E Zarek; Krystal L Matthews; Bo Xiao; Paul F Worley; Sara C Kozma; Jonathan D Powell
Journal:  Immunity       Date:  2009-06-19       Impact factor: 31.745

Review 2.  Multiple cystic lung disease.

Authors:  Flavia Angélica Ferreira Francisco; Arthur Soares Souza; Gláucia Zanetti; Edson Marchiori
Journal:  Eur Respir Rev       Date:  2015-12

Review 3.  Birt-Hogg-Dubé syndrome: diagnosis and management.

Authors:  Fred H Menko; Maurice A M van Steensel; Sophie Giraud; Lennart Friis-Hansen; Stéphane Richard; Silvana Ungari; Magnus Nordenskjöld; Thomas Vo Hansen; John Solly; Eamonn R Maher
Journal:  Lancet Oncol       Date:  2009-12       Impact factor: 41.316

4.  Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons.

Authors:  A R Birt; G R Hogg; W J Dubé
Journal:  Arch Dermatol       Date:  1977-12

5.  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

6.  Characteristics of pulmonary cysts in Birt-Hogg-Dubé syndrome: thin-section CT findings of the chest in 12 patients.

Authors:  Kazunori Tobino; Yoko Gunji; Masatoshi Kurihara; Makiko Kunogi; Kengo Koike; Noriyuki Tomiyama; Takeshi Johkoh; Yuzo Kodama; Shin-ichiro Iwakami; Mika Kikkawa; Kazuhisa Takahashi; Kuniaki Seyama
Journal:  Eur J Radiol       Date:  2009-09-25       Impact factor: 3.528

7.  Folliculin controls lung alveolar enlargement and epithelial cell survival through E-cadherin, LKB1, and AMPK.

Authors:  Elena A Goncharova; Dmitry A Goncharov; Melane L James; Elena N Atochina-Vasserman; Victoria Stepanova; Seung-Beom Hong; Hua Li; Linda Gonzales; Masaya Baba; W Marston Linehan; Andrew J Gow; Susan Margulies; Susan Guttentag; Laura S Schmidt; Vera P Krymskaya
Journal:  Cell Rep       Date:  2014-04-13       Impact factor: 9.423

8.  Characterization of pulmonary cysts in Birt-Hogg-Dubé syndrome: histopathological and morphometric analysis of 229 pulmonary cysts from 50 unrelated patients.

Authors:  Toshio Kumasaka; Takuo Hayashi; Keiko Mitani; Hideyuki Kataoka; Mika Kikkawa; Kazunori Tobino; Etsuko Kobayashi; Yoko Gunji; Makiko Kunogi; Masatoshi Kurihara; Kuniaki Seyama
Journal:  Histopathology       Date:  2014-03-04       Impact factor: 5.087

9.  Folliculin, the product of the Birt-Hogg-Dube tumor suppressor gene, interacts with the adherens junction protein p0071 to regulate cell-cell adhesion.

Authors:  Doug A Medvetz; Damir Khabibullin; Venkatesh Hariharan; Pat P Ongusaha; Elena A Goncharova; Tanja Schlechter; Thomas N Darling; Ilse Hofmann; Vera P Krymskaya; James K Liao; Hayden Huang; Elizabeth P Henske
Journal:  PLoS One       Date:  2012-11-06       Impact factor: 3.240

Review 10.  Birt-Hogg-Dube syndrome: clinicopathological features of the lung.

Authors:  Mitsuko Furuya; Yukio Nakatani
Journal:  J Clin Pathol       Date:  2012-12-08       Impact factor: 3.411

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