The absence of a mutation, therefore, does not eliminate the possibility of a diagnosis of birt hogg dube syndrome. Comedonal and cystic fibrofolliculomas in birt hogg dube syndrome. Birt hogg dube bhd syndrome is a tumorsuppressor gene disorder characterized by skin tumors, cystic lung disease and renal cell carcinoma. A cutaneous contribution to growing evidence of a relationship with tuberous sclerosis complex. Pdf birthoggdube syndrome bhd is a dominantly inherited predisposition for development of fibrofolliculomas, trichodiscomas, and. Methods mesenchymal flcn was specifically deleted in mice or in cultured lung mesenchymal progenitor. Knickenberg syndrome is an autosomal dominant tumor syndrome.
These papules generally occur on the head, upper torso and the face. Lung cysts related to bhd have not been associated with longterm disability or fatality. The classically described skin findings are the triad of hamartomas of the hair follicles fibrofolliculomas, tumors of the hair disk trichodiscomas, and skin tags. Deletion mutation in the folliculin flcn gene short arm of chromosome 17, with autosomal dominant inheritance. The pathogenic mechanisms underlying the cystic lung disease in bhd are poorly understood. In birthoggdube syndrome, a mutation in the folliculin gene fcln is. This disorder is caused by mutations in the gene coding for folliculin flcn.
Most bhdlinked flcn variants include large deletions and splice site aberrations predicted to cause loss of function. Differentiation between birt hogg dube syndrome and lymphangioleiomyomatosis. In order to find out how many patients have other symptoms of bhd, we have designed a quick survey, which can be found here. Birthoggdube syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. The clinical characteristics of birthogg dube syndrome bhds include cutaneous manifestations fibrofolliculomas, acrochordons, angiofibromas, oral papules, cutaneous collagenomas, and epidermal cysts, pulmonary cystshistory of pneumothorax, and various types of renal tumors. The clinical characteristics of birthoggdube syndrome bhds include cutaneous manifestations fibrofolliculomas, acrochordons. Birthoggdube syndrome bhd is a hereditary condition associated with multiple noncancerous benign skin tumors, lung cysts, and an increased risk of both benign kidney tumors and kidney cancer. Join researchgate to discover and stay uptodate with the latest research from leading experts in birt hogg dube syndrome and many other.
The objective of this study was to describe the features of korean patients with bhd syndrome. This case was the november 2015 imaging case of the month click to be directed to the full presentation. It is a rare clinicopathologic condition named after the three canadian physicians who reported the syndrome in 1977. Having bhd symptoms suggests that you may have bhd, but as there are other diseases that can cause similar symptoms, the only way to definitely know if you have bhd is to have a genetic test. Birthoggdube bhd syndrome is an autosomal dominant condition characterized by dermatologic lesions, pulmonary manifestations, and. The pulmonary cysts and repeated episodes of pneumothorax are the clinical hallmarks for discovering families affected by the syndrome. Birt hogg dube bhd syndrome is a recently discovered autosomaldominant disease caused by a mutation in the folliculin gene. Patients with a personal and family history of pneumothoraces and computed tomographic ct findings of multiple pulmonary cysts should alert the thoracic surgeon to. In young patients, renal neoplasms that are multiple, bilateral, or both, such as oncocytomas, chromophobe renal cell carcinoma rcc, hybrid chromophobe rcconcocytomas, clear cell rcc, and papillary rcc, can suggest bhd syndrome.
At the time of diagnosis of birthoggdube bhd syndrome, a computed tomography ct scan, or high resolution ct scan if available, should be done to determine the number, location, and size of any cysts in the lungs. Birthoggdube syndrome bhds is a rare autosomal dominant inherited syndrome caused by mutations in the folliculin coding. Whether you have other symptoms or not, please do take two minutes to fill out the survey, if you can. There is no recommended management of the lung cysts. We report a patient with familial spontaneous pneumothorax who was found to have bhd syndrome. Birthoggdube syndrome is characterized by multiple noncancerous benign skin tumors, particularly on the face, neck, and upper chest. Zbar b, alvord wg, glenn g, turner m, pavlovich cp, schmidt l et al. The list of codes and their descriptors, if any is provided for informational purposes only and may not be all inclusive or current. Sphenochoanal polyp is a rare entity which originates from the sphenoid sinus and passes via the sphenoid ostium to the choana and presents like the more frequently occurring antrochoanal polyp. This syndrome is characterised by three main symptoms. The disease is caused by germline mutations in the flcn gene located on chromosome 17p11. Differentiation between lymphangioleiomyomatosis and birt.
Birthoggdube syndrome bhd is an autosomal dominant condition characterised clinically by skin. The birthoggdube syndrome bhd is an inherited autosomal dominant genodermatosis caused by mutations of the folliculin flcn gene. Birthoggdube syndrome in a patient presenting with. Pdf birthoggdube syndrome bhd is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous. Enable javascript to view the expandcollapse boxes. Birthoggdube bhd syndrome is characterized by skin lesions, kidney tumors.
It is caused by mutations in the flcn gene, which encodes a tumorsuppressor. At the time of diagnosis of birt hogg dube bhd syndrome, a computed tomography ct scan, or high resolution ct scan if available, should be done to determine the number, location, and size of any cysts in the lungs. The condition is caused by germline mutations in the flcn gene, which encodes folliculin. It is completely anonymous, and the results will be posted here. Its signs and symptoms vary among affected individuals. Tuberous sclerosis complex tsc results from a heritable pathogenic variant of tsc1 or tsc2. The computerized tomography scan revealed multiple cysts on both lungs.
Some individuals who have a diagnosis of birt hogg dube syndrome may have a mutation that is not identified by this method eg, deep intronic mutations, promoter mutations. Southwest journal of pulmonary and critical care2017volume 14 126. The role of the birthoggdube protein in mtor activation. Birt hogg dube syndrome bhd is a rare autosomal dominant inherited cancer syndrome characterized by benign tumors of the hair follicle fibrofolliculoma, pulmonary cysts, spontaneous pneumothorax and increased risk for renal carcinoma. Disease severity can vary significantly even within the same family. Please see the entire case presentation for details and discussion. There have been few reports in the literature of intracranial vascular pathology in patients with bhd syndrome, and intracranial vascular pathology is currently not a part of the diagnostic criteria. Genetics overview bhd is a genetic disease, caused by mutations in the folliculin flcn gene.
Both bhds and tsc may present with papules on the nose and cheeks. Background pulmonary cysts and spontaneous pneumothorax are presented in most patients with birt hogg dube bhd syndrome, which is caused by loss of function mutations in the folliculin flcn gene. Birthoggdube syndrome bhd is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts. Birthoggdube syndrome is a rare autosomal dominant genodermatosis that is. Birt hogg dube syndrome bhd, also hornstein birt hogg dube syndrome, hornsteinknickenberg syndrome, and fibrofolliculomas with trichodiscomas and acrochordons is a human autosomal dominant genetic disorder that can cause susceptibility to kidney cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles, called fibrofolliculomas. Symptoms of bhd generally do not appear until adulthood. The majority of renal tumors that arise in bhdsaffected individuals are histologically similar to sporadic chromophobe renal cell. Birt hogg dube bhd syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax.
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