Birt-Hogg-Dubé syndrome (BHD), also Hornstein-Birt-Hogg-Dubé syndrome, Hornstein-Knickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human, adult onset, autosomal dominant genetic disorder caused by the FLCN gene. (wikipedia.org)
Any of these conditions that occurs in a family can indicate a diagnosis of Birt-Hogg-Dubé syndrome, though it is only confirmed by a genetic test for a mutation in the FLCN gene, which codes for the protein folliculin. (wikipedia.org)
Birt-Hogg-Dubé syndrome can manifest similarly to other diseases, which must be ruled out when making a diagnosis. (wikipedia.org)
Birt-Hogg-Dubé syndrome affects the skin and increases the risk of tumors in the kidneys and lungs. (wikipedia.org)
Along with the tumors, other skin conditions are seen in people with Birt-Hogg-Dubé syndrome. (wikipedia.org)
Acrochordons are not a component of the Birt-Hogg-Dubé syndrome: does this syndrome exist? (medscape.com)
Fibrofolliculomas, trichodiscomas, and acrochordons: the Birt-Hogg-Dubé syndrome. (medscape.com)
Welsch MJ, Krunic A, Medenica MM. Birt-Hogg-Dubé Syndrome. (medscape.com)
Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome. (medscape.com)
Birt-Hogg-Dube syndrome: clinicpathologic findings and genetic alterations. (medscape.com)
Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. (medscape.com)
Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. (medscape.com)
Tobino K, Seyama K. Birt-Hogg-Dubé syndrome with renal angiomyolipoma. (medscape.com)
Mallipeddi R, Pichert G, Whittaker S. Birt-Hogg-Dubé syndrome with a renal angiomyolipoma: further evidence of a relationship between Birt Hogg-Dubé syndrome and tuberous sclerosis complex. (medscape.com)
Lin Z, Gong K, Pang B, Zeng C, Zhang D. Birt-Hogg-Dubé syndrome with clear cell renal cell carcinoma in a Chinese family. (medscape.com)
Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dubé syndrome. (medscape.com)
Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disorder clinically manifested by fibrofolliculomas, renal cell carcinoma, lung cysts, and spontaneous pneumothorax. (medscape.com)
The presence of this triad has been termed Birt-Hogg-Dubé syndrome. (medscape.com)
Pulmonary cysts and spontaneous pneumothoraces have also been increasingly reported manifestations of Birt-Hogg-Dubé syndrome. (medscape.com)
[ 20 ] Even with these pulmonary complications of Birt-Hogg-Dubé syndrome, most patients have preserved pulmonary function or mild obstructive pulmonary disease. (medscape.com)
Birt-Hogg-Dubé syndrome is caused by a mutation in the folliculin ( FLCN ) gene that has been mapped to the short arm of chromosome 17, specifically 17p11.2. (medscape.com)
FLNC is a tumor suppressor gene, but the manifestations of Birt-Hogg-Dubé syndrome appear to have several mechanisms of activation. (medscape.com)
Several authors have reported that Hornstein-Knickenberg syndrome (characterized by multiple perifollicular fibromas) may be the same syndrome as Birt-Hogg-Dubé syndrome. (medscape.com)
Birt-Hogg-Dube syndrome, a genodermatosis that increases risk for renal carcinoma. (medscape.com)
I-ConFIRM (the International Consortium For the Investigation of Renal Malignancies) is going to undertake a research project on Birt-Hogg-Dubé syndrome and was just approved by the Human Research Ethics Committee of the Cancer Council of Victoria. (bhdsyndrome.org)
Further, the study demonstrated 24% of Birt-Hogg-Dubé syndrome patients and 34% of Birt-Hogg-Dubé syndrome family members screened for lung cysts had a history of spontaneous pneumothorax. (medscape.com)
The cause of mesodermal proliferation is unknown, but autosomal dominant inheritance has been identified in patients with Birt-Hogg-Dubé syndrome (BHDS). (medscape.com)
Schmidt et al demonstrated that Birt-Hogg-Dubé syndrome maps to band 17p11.2. (medscape.com)
They also demonstrated a Birt-Hogg-Dubé syndrome tumor-suppressor protein, folliculin. (medscape.com)
[ 35 ] Expression of the Birt-Hogg-Dubé syndrome protein has been widespread in a variety of tissues, including the kidneys, lungs, and skin. (medscape.com)
In recent studies, renal and pulmonary tumors in Birt-Hogg-Dubé syndrome appear to follow the two-hit tumorigenesis theory relating to the interaction of folliculin with the FLCN-interacting protein 1 (FNIP1) and FLCN-interacting protein 2 (FNIP2). (medscape.com)
Birt-Hogg-Dubé (BHD) syndrome is an autosomal dominant condition characterized by dermatologic lesions, pulmonary manifestations, and renal tumors. (medscape.com)
Thoracic CT findings in Birt-Hogg-Dube syndrome. (ox.ac.uk)
ObjectiveBirt-Hogg-Dubé syndrome manifests in the thorax as lung cysts. (ox.ac.uk)
The purpose of this article is to describe the CT characteristics of cysts in patients with Birt-Hogg-Dubé syndrome and to note other thoracic findings.Materials and methodsThe thoracic CT examinations of 17 patients with Birt-Hogg-Dubé syndrome were reviewed retrospectively for the presence, anatomic distribution (upper lung predominant, lower lung predominant, or diffuse), extent (size, number), and morphology (shape, wall thickness) of cysts. (ox.ac.uk)
Cysts showed no central or peripheral predominance.ConclusionDiscrete thin-walled cysts in patients with Birt-Hogg-Dubé syndrome are more numerous and larger in the lower lobes and vary in size and shape. (ox.ac.uk)
These features may aid in differentiating Birt-Hogg-Dubé syndrome from other more common cystic lung diseases. (ox.ac.uk)
Birt-Hogg-Dubé syndrome is another genetic disorder that causes kidney tumors, among other symptoms. (medicalnewstoday.com)
Detection of 1733insC mutations in an Asian family with Birt-Hogg-Dube syndrome. (medscape.com)
Birt-Hogg-Dube syndrome: a novel marker of kidney neoplasia. (medscape.com)
Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene. (medscape.com)
Phaeochromocytoma in a patient with a Birt-Hogg-Dubé syndrome phenotype. (nih.gov)
These conditions include Von Hippel-Lindau syndrome, hereditary papillary renal cell carcinoma, Birt-Hogg-Dube syndrome, and familial renal cancer. (medicalnewstoday.com)
certain inherited syndromes such as von Hippel-Lindau disease, Birt-Hogg-Dube syndrome, tuberous sclerosis. (rxwiki.com)
Whitehead Institute scientists report that the gene mutated in the rare hereditary disorder known as Birt-Hogg-Dubé cancer syndrome also prevents activation of mTORC1, a critical nutrient-sensing and growth-regulating cellular pathway. (bioquicknews.com)
In the case of Birt-Hogg-Dubé syndrome, the mutated gene prevents mTORC1 pathway activation early in the formation of tumors. (bioquicknews.com)
Lymphangiomyomatosis must be differentiated from other diseases that cause similar clinical features, such as asthma , spontaneous pneumothorax , emphysema , interstitial pulmonary fibrosis , eosinophilic granuloma (EG), Birt-Hogg-Dube syndrome, lymphangiomas , pulmonary lymphangiectasis, and leiomyosarcoma . (wikidoc.org)
The various etiologies identified were lymphangioleiomyomatosis (LAM), lymphocytic interstitial pneumonia, Birt-Hogg-Dube syndrome, hypersensitivity pneumonitis, Pneumocystis jirovecii pneumonia, and cystic metastasis, and in one patient, no definite cause was found despite detailed evaluation. (ijcdas.com)
Leiomyomatosis and Renal Cell Carc1
The accompanying innate infections increment the gamble of RCC: tuberous sclerosis, Von Hippel-Lindau condition Birt- Hogg-Dube disorder, genetic papillary renal carcinoma, and inherited leiomyomatosis and renal cell carcinoma (HLRCC). (alliedacademies.org)
Acrochordons1
We describe a patient with multiple fibrofolliculomas (FF), tricodiscomas (TD) and acrochordons (Birt-Hogg-Dubé) associated with intestinal polyps. (nih.gov)
Gene1
Therapeutic targeting the loss of the Birt-Hogg-Dubé suppressor gene. (scienceblog.com)
Skin1
In 1977, Birt, Hogg, and Dubé reported small papular skin lesions distributed over the scalp, forehead, face, and neck in 15 of 70 members in a kindred study. (medscape.com)
Hereditary1
A cornerstone of the progress that has popularized nephron-sparing surgery is greater knowledge of the molecular biology of renal cancers facilitated largely by the study of hereditary renal cancer syndromes, including von Hippel-Lindau (VHL), hereditary PRC (HPRC), Birt-Hogg-Dubé, and hereditary leiomyomatosis and renal cell cancer ( 2, 3 ). (aacrjournals.org)
19771
In 1977, Birt, Hogg, and Dubé reported small papular skin lesions distributed over the scalp, forehead, face, and neck in 15 of 70 members in a kindred study. (medscape.com)