TITLE

Pulmonary cystic disease associated with integumentary and renal manifestations

AUTHOR(S)
Cayetano, Katherine S.; Albertson, Timothy E.; Chan, Andrew L.
PUB. DATE
November 2013
SOURCE
Journal of Biomedical Research;2013, Vol. 27 Issue 6, p515
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
A 69-year-old man with multiple skin lesions on his face, neck and upper torso, which first appeared in the 3rd decade of his life, was admitted to our hospital. He had cystic changes in his lungs noted on chest computed tomography (CT) scanning, as well as a left kidney mass. This patient exhibited a rare complex of renal, cutaneous and pulmonary manifestations, eponymously named Birt-Hogg-Dube syndrome, with characteristic skin features (fibrofolliculomas, trichodiscomas and acrochordons). This syndrome is due to an autosomal dominant germ-line mutation of the folliculin (FLCN) gene located at chromosome 17p11.2. Diagnosis and differentiation from other disease complexes including the skin, kidneys and lungs are important in prognostication and management of potentially life-threatening complications such as renal cell carcinoma and pneumothoraces.
ACCESSION #
92734219

 

Related Articles

  • Birt-Hogg-Dubé syndrome: clinicopathological features of the lung. Furuya, Mitsuko; Nakatani, Yukio // Journal of Clinical Pathology;Mar2013, Vol. 66 Issue 3, p178 

    Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant inherited disorder characterised by fibrofolliculomas, renal tumours, pulmonary cysts and pneumothorax. The pulmonary cysts and repeated episodes of pneumothorax are the clinical hallmarks for discovering families affected by the...

  • A Remarkable Case of Micro-Endemism in Laonastes aenigmamus (Diatomyidae, Rodentia) Revealed by Nuclear and Mitochondrial DNA Sequence Data. Nicolas, Violaine; Herbreteau, Vincent; Couloux, Arnaud; Keovichit, Kham; Douangboupha, Bounneuang; Hugot, Jean-Pierre // PLoS ONE;Nov2012, Vol. 7 Issue 11, Special section p1 

    L. aenigmamus is endemic to the limestone formations of the Khammuan Province (Lao PDR), and is strongly specialized ecologically. From the survey of 137 individuals collected from 38 localities, we studied the phylogeography of this species using one mitochondrial (Cyt b) and two nuclear genes...

  • Human Folliculin Delays Cell Cycle Progression through Late S and G2/M-Phases: Effect of Phosphorylation and Tumor Associated Mutations. Laviolette, Laura A.; Wilson, Jonas; Koller, Julia; Neil, Christopher; Hulick, Peter; Rejtar, Tomas; Karger, Barry; Teh, Bin Tean; Iliopoulos, Othon // PLoS ONE;Jul2013, Vol. 8 Issue 7, p1 

    The Birt-Hogg-Dube disease occurs as a result of germline mutations in the human Folliculin gene (FLCN), and is characterized by clinical features including fibrofolliculomas, lung cysts and multifocal renal neoplasia. Clinical and genetic evidence suggest that FLCN acts as a tumor suppressor...

  • An inherited cause of pneumothorax—the Birt–Hogg–Dubé syndrome. Zenone, T. // QJM: An International Journal of Medicine;May2014, Vol. 107 Issue 5, p393 

    No abstract available.

  • Cystic Lung Disease in Birt-Hogg-Dubé Syndrome: A Case Series of Three Patients. Kilincer, Abidin; Ariyurek, Orhan Macit; Karabulut, Nevzat // Eurasian Journal of Medicine;Jun2014, Vol. 46 Issue 2, p138 

    Birt-Hogg-Dubé syndrome is characterized by clinical manifestations such as hamartomas of the skin, renal tumors and lung cysts with spontaneous pneumothoraces. Patients with Birt-Hogg-Dubé syndrome may present with only multiple lung cysts. We report the chest computerized tomography (CT)...

  • A 54-Year-Old Female with Skin Lesions and History of Renal Cell Carcinoma. Valizadeh, Nasim // Indian Journal of Dermatology;Jul/Aug2013, Vol. 58 Issue 4, Following p324 

    A quiz is presented that asks the most accurate diagnosis for a 54-year-old woman admitted to the hospital with left hip joint pain who was found to have a large pedunculated fibroma on her right shoulder, acrochordons on her left shoulder, and multiple dome-shaped papules on the back of her neck.

  • Folliculin Contributes to VHL Tumor Suppressing Activity in Renal Cancer through Regulation of Autophagy. Bastola, Prabhat; Stratton, Yiwen; Kellner, Emily; Mikhaylova, Olga; Yi, Ying; Sartor, Maureen A.; Medvedovic, Mario; Biesiada, Jacek; Meller, Jarek; Czyzyk-Krzeska, Maria F. // PLoS ONE;Jul2013, Vol. 8 Issue 7, p1 

    Von Hippel-Lindau tumor suppressor (VHL) is lost in the majority of clear cell renal cell carcinomas (ccRCC). Folliculin (FLCN) is a tumor suppressor whose function is lost in Birt-Hogg-Dubé syndrome (BHD), a disorder characterized by renal cancer of multiple histological types including...

  • Cystic Lung Disease in Genetic Syndromes with Deficient Tumor Suppressor Gene Function. Daccord, Cécile; Nicod, Laurent P.; Lazor, Romain // Respiration;Dec2017, Vol. 94 Issue 6, p467 

    Cystic lung diseases constitute a distinct group of rare lung disorders, among which two result from monogenic defects affecting tumor suppressor genes: lymphangioleiomyomatosis, either sporadic or associated with tuberous sclerosis complex, and Birt-Hogg-Dubé syndrome. These disorders have...

  • Dermatology Clinic.  // Clinical Advisor;Aug2013, Vol. 16 Issue 8, p82 

    The article offers information on the diagnosis and treatment of Birt-Hogg-Dubé (BHD) syndrome. It notes the clinical constellation of BHD which includes renal tumors, fibrofolliculomas, and pneumothorax. It mentions renal cancer as the most dangerous consequence of BHD and suggests annual...

Share

Read the Article

Courtesy of THE LIBRARY OF VIRGINIA

Sorry, but this item is not currently available from your library.

Try another library?
Sign out of this library

Other Topics