Birt-Hogg-Dube Syndrome

Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein).

Also Known As:

Networked: 9 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Neoplasms (Cancer)
2.	Multiple Hamartoma Syndrome (Cowden's Disease)
3.	Yellow Nail Syndrome
4.	Muir-Torre Syndrome
5.	Malignant Atrophic Papulosis

Experts

1.	Linehan, W Marston: 2 articles (05/2009 - 05/2008)
2.	Schmidt, Laura S: 2 articles (05/2009 - 05/2008)
3.	Furuya, Mitsuko: 1 article (05/2014)
4.	Fuke, Megumi: 1 article (05/2014)
5.	Sakaguchi, Masayuki: 1 article (05/2014)
6.	Nishimura, Kazunori: 1 article (05/2014)
7.	Kuraishi, Hiroshi: 1 article (05/2014)
8.	Nakahara, Takashi: 1 article (05/2014)
9.	Gotou, Hirohisa: 1 article (05/2014)
10.	Hofmann, Luke J: 1 article (07/2012)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Birt-Hogg-Dube Syndrome:

1.	Estrone (Folliculin)FDA Link 05/15/2009 - "The BHD gene (also known as folliculin or FLCN) is the gene for Birt-Hogg-Dube syndrome, an autosomal-dominant genodermatosis associated with a hereditary form of chromophobe and oncocytic, hybrid RCC. " 01/01/2005 - "[Mutations of tumor suppressor genes coding for folliculin in Birt Hogg Dube syndrome]." 07/01/2012 - "The HLA haplotype A2 B40, the gene encoding folliculin, Alph-1-antitrypsin, Marfan's syndrome, Ehlers-Danlos syndrome and Birt-Hogg-Dube syndrome have all been associated with familial spontaneous pneumothoraces. " 05/01/2014 - "We finally diagnosed Birt-Hogg-Dube syndrome after deoxyribonucleic asid(DNA)sequencing of folliculin( FLCN) gene. " 05/31/2008 - "Birt-Hogg-Dube' syndrome characterized by increased risk for renal neoplasia is caused by germline mutations in the BHD/FLCN gene encoding a novel tumor suppressor protein, folliculin(FLCN), which interacts with FNIP1 and 5'-AMP-activated protein kinase(AMPK). "
2.	Bazex-Dupre-Christol syndromeIBA 11/01/2010 - "Skin disorders that may be associated with paraneoplastic syndromes include: cutaneous metastases, tripe palms, Sweet's syndrome, glucagonoma, Paget's disease and extramammary Paget's disease, acanthosis nigricans, Birt-Hogg-Dube syndrome, basal cell nevus syndrome, Bazex syndrome (acrokeratosis paraneoplastica), carcinoid syndrome, Cowden's disease(multiple hamartoma syndrome), dermatomyositis, erythema gyratum repens, ichthyosis aquisita, von Recklinghausen's disease, pityriasis rotunda, pyoderma gangrenosum, Quincke's edema (angioedema and paraneoplastic uricaria), paraneoplastic pemphigus, Degos' disease, superior vena cava syndrome, Werner's syndrome, diffuse normolipemic plane xanthomas, and yellow nail syndrome. " 11/01/2005 - "This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt-Hogg-Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke-Spiegler syndrome, familial cylindromatosis, multiple familial trichoepitheliomas, and Muir-Torre syndrome."
3.	AMP-Activated Protein KinasesIBA 05/31/2008 - "Birt-Hogg-Dube' syndrome characterized by increased risk for renal neoplasia is caused by germline mutations in the BHD/FLCN gene encoding a novel tumor suppressor protein, folliculin(FLCN), which interacts with FNIP1 and 5'-AMP-activated protein kinase(AMPK). "
4.	DNA (Deoxyribonucleic Acid)IBA 05/01/2014 - "We finally diagnosed Birt-Hogg-Dube syndrome after deoxyribonucleic asid(DNA)sequencing of folliculin( FLCN) gene. "
5.	Familial cylindromatosisIBA 11/01/2005 - "This article reviews the clinical and genetic aspects of inherited syndromes that are characterised by skin appendage neoplasms, including Cowden syndrome, Birt-Hogg-Dube syndrome, naevoid basal cell carcinoma syndrome, generalised basaloid follicular hamartoma syndrome, Bazex syndrome, Brooke-Spiegler syndrome, familial cylindromatosis, multiple familial trichoepitheliomas, and Muir-Torre syndrome."

Therapies and Procedures

1.	Lasers (Laser) 01/01/2001 - "Birt-Hogg-Dube syndrome: treatment of cutaneous manifestations with laser skin resurfacing."
2.	Curettage 10/01/2007 - "Letter: hyfrecation and curettage as a treatment for fibrofolliculomas in Birt-Hogg-Dube syndrome."