FolliculinAutosomal dominantRenal cancerBHDSLung cystsTrichodiscomasTumorsPulmonaryFLCNProteinCommonlySpontaneous pneumothoraxAcrochordonsCystsAutosomal dominant disorderHistologyOncocytomaMenkoLesionsGeneticManifestationsTriadClinicalBilateralDiagnosisMutationsPatientsKidneyAssociationClearRelationshipCancer
Folliculin5
- They also demonstrated a Birt-Hogg-Dubé syndrome tumor-suppressor protein, folliculin. (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)
- The tumor suppressor gene FLCN encodes the protein folliculin, also known as Birt-Hogg-Dubé syndrome protein, which functions as an inhibitor of Lactate Dehydrogenase-A and a regulator of the Warburg effect. (wikipedia.org)
- Folliculin (FLCN) is also associated with Birt-Hogg-Dubé syndrome, which is an autosomal dominant inherited cancer syndrome in which affected individuals are at risk for the development of benign cutaneous tumors (folliculomas), pulmonary cysts (often associated with pneumothorax), and kidney tumors. (wikipedia.org)
- 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)
Autosomal dominant3
- In summary, Birt-Hogg-Dubé syndrome is an autosomal dominant disorder clinically manifested by fibrofolliculomas, renal cell carcinoma, lung cysts, and 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)
- Molecular location on chromosome 17: base pairs 17,056,252 to 17,081,230 (NCI Build 36.1) Germline mutations in the FLCN gene cause Birt-Hogg-Dubé syndrome (BHD), an autosomal dominant disease that predisposes individuals to develop benign tumors of the hair follicle called fibrofolliculomas, lung cysts, spontaneous pneumothorax, and an increased risk for kidney tumors. (wikipedia.org)
Renal cancer1
- Multiple or bilateral renal carcinomas have been reported in association with this syndrome, most commonly hybrid oncocytic tumors with features of chromophobe renal carcinoma (50%), followed by chromophobe renal cancer, clear cell renal carcinoma, and renal oncocytoma. (medscape.com)
BHDS1
- The presence of this triad has been termed Birt-Hogg-Dubé syndrome (BHDS). (medscape.com)
Lung cysts2
- 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)
- Based on the presence of FLCN staining by immunohistochemistry, haploinsufficiency, that is mutation of one copy of FLCN with retention of the wild type copy, may be sufficient for the development of fibrofolliculomas and lung cysts. (wikipedia.org)
Trichodiscomas2
- Histologic examination of the lesions revealed fibrofolliculomas, trichodiscomas, and acrochordons. (medscape.com)
- Birt-Hogg-Dubé syndrome was originally described by three Canadian physicians in a family in which 15 of 70 members over 3 generations exhibited a triad of dermatological lesions (fibrofolliculomas, trichodiscomas and acrochordons). (wikipedia.org)
Tumors1
- Subsequently, cosegregation of kidney neoplasms with BHD cutaneous lesions was observed in 3 families with a family history of kidney tumors, suggesting that kidney tumors may be part of the BHD syndrome phenotype. (wikipedia.org)
Pulmonary2
- 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)
FLCN1
- A region spanning chromosome 17p11 was identified and mutations in a novel gene, FLCN, were subsequently found in the germline of individuals affected with BHD syndrome. (wikipedia.org)
Protein1
- [ 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)
Commonly1
- Multiple or bilateral renal carcinomas, commonly chromophobe renal carcinoma and renal oncocytomas, and rarely, clear cell renal carcinomas have been reported in association with this syndrome. (medscape.com)
Spontaneous pneumothorax4
- Birt-Hogg-Dubé syndrome (BHDS) is an autosomal dominant disorder clinically manifested by fibrofolliculomas, renal cell carcinoma, lung cysts, and spontaneous pneumothorax. (medscape.com)
- Birt-Hogg-Dubé syndrome, a genodermatosis associated with spontaneous pneumothorax and kidney neoplasia, maps to chromosome 17p11.2. (medscape.com)
- 6. Spontaneous pneumothorax due to Birt-Hogg-Dube syndrome in a Chinese family. (nih.gov)
- 13. Risk of renal and colonic neoplasms and spontaneous pneumothorax in the Birt-Hogg-Dubé syndrome. (nih.gov)
Acrochordons6
- Histologic examination of the lesions revealed fibrofolliculomas, trichodiscomas, and acrochordons. (medscape.com)
- Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. (medscape.com)
- 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)
- Birt-Hogg-Dubé syndrome was originally described by three Canadian physicians in a family in which 15 of 70 members over 3 generations exhibited a triad of dermatological lesions (fibrofolliculomas, trichodiscomas and acrochordons). (wikipedia.org)
- The clinical characteristics of Birt-Hogg-Dubé syndrome (BHDS) include cutaneous manifestations (fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts), pulmonary cysts/history of pneumothorax, and various types of renal tumors. (nih.gov)
Cysts3
- Pulmonary cysts and spontaneous pneumothoraces have also been increasingly reported manifestations of Birt-Hogg-Dubé syndrome. (medscape.com)
- BHD is characterized by lower lobe-predominant pulmonary cysts with risk of pneumothorax, benign skin tumors (fibrofolliculomas), and renal cell carcinoma, often of an unusual chromophobe/oncocytic hybrid histology. (nih.gov)
- Folliculin (FLCN) is also associated with Birt-Hogg-Dubé syndrome, which is an autosomal dominant inherited cancer syndrome in which affected individuals are at risk for the development of benign cutaneous tumors (folliculomas), pulmonary cysts (often associated with pneumothorax), and kidney tumors. (wikipedia.org)
Autosomal dominant disorder1
Histology1
- 2. Renal tumor histology consistent with BHD, including, but not limited to those suggestive of chromophobe, oncocytic neoplasm or oncocytoma. (nih.gov)
Oncocytoma2
- In this case report, we describe an unusual case of two bilateral synchronous chromophobe renal cell carcinomas accompanied by an oncocytoma and an angiomyolipoma, that were all treated by open partial nephrectomy. (biomedcentral.com)
- To the best of our knowledge, this is the first case report on the synchronous occurrence of bilateral chromophobe renal cell carcinomas associated with an oncocytoma and an angiomyolipoma. (biomedcentral.com)
Menko1
- Menko et al proposed diagnostic criteria for Birt-Hogg-Dubé syndrome (patients should meet 1 major or 2 minor criteria for diagnosis). (medscape.com)
Lesions2
- 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)
- In order to identify the genetic locus for BHD syndrome, genetic linkage analysis was performed in families recruited on the basis of BHD cutaneous lesions. (wikipedia.org)
Genetic4
- Birt-Hogg-Dube syndrome: clinicpathologic findings and genetic alterations. (medscape.com)
- 4. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families. (nih.gov)
- 18. Birt-Hogg-Dubé syndrome: clinical and genetic studies of 20 families. (nih.gov)
- This study will investigate the genetic cause of Birt Hogg-Dube (BHD) syndrome and the relationship of this disorder to kidney cancer. (nih.gov)
Manifestations1
- FLNC is a tumor suppressor gene, but the manifestations of Birt-Hogg-Dubé syndrome appear to have several mechanisms of activation. (medscape.com)
Triad1
- The presence of this triad has been termed Birt-Hogg-Dubé syndrome. (medscape.com)
Clinical1
- Clinical Features, Genetics and Potential Therapeutic Approaches for Birt-Hogg-Dubé Syndrome. (medscape.com)
Bilateral1
- Bilateral renal cell carcinoma in the Birt-Hogg-Dubé syndrome. (medscape.com)
Diagnosis1
- 12. Birt-Hogg-Dubé syndrome: diagnosis and management. (nih.gov)
Mutations1
- 19. Novel mutations in the BHD gene and absence of loss of heterozygosity in fibrofolliculomas of Birt-Hogg-Dubé patients. (nih.gov)
Patients1
Kidney3
- Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. (medscape.com)
- In April 2006, the patient was subjected to open partial nephrectomy on the left kidney, which revealed a 4 cm chromophobe renal cell carcinoma (Fuhrman II), with clear surgical margins. (biomedcentral.com)
- In May 2006, a second open partial nephrectomy was performed on the right kidney, revealing a 3.5 cm chromophobe renal cell carcinoma (Fuhrman II), with clear surgical margins. (biomedcentral.com)
Clear1
- 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)
Relationship1
- 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)