Birthoggdube syndrome is a rare disorder that affects males and females in equal numbers. Aug 23, 2019 birthoggdube syndrome is caused by a mutation in the folliculin flcn gene that has been mapped to the short arm of chromosome 17, specifically 17p11. Pdf birthoggdube syndrome bhd is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous. There is no specific medical treatment for the dermatologic manifestations of bhd. Genetic testing for birthogg dube syndrome bhds flcn gene mp9527. Jul 01, 2015 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.
Birthoggdube syndrome, fibrofolliculoma, spontaneous pneumothorax, renal neoplasm. Objective birthoggdube syndrome manifests in the thorax as lung cysts. Introduction this pamphlet offers a brief description of birthogg dube syndrome bhd, its com mon symptoms and recommended management. Birthoggdube syndrome in a patient presenting with. Flcn bhd gene analysis in birthoggdube syndrome primary. Birthoggdube syndrome bhd, also hornsteinbirthoggdube 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. We report a patient with familial spontaneous pneumothorax who was found to have bhd syndrome.
Objective birt hogg dube syndrome manifests in the thorax as lung cysts. Birthoggdube bhd syndrome is a rare inherited genodermatosis characterized by small, firm, domeshaped papules fibrofolliculomas distributed over the forehead, face, neck and upper trunk. Dube bhd syndrome is a rare autosomal dominant disorder characterized by skin hamartomas, renal tumors, and multiple lung cysts. Birthoggdube syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. 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. Genetic testing is covered for a prevea360 health plan member. Birthogg dube syndrome bhds flcn gene 1 of 2 underwritten by dean health plan, inc. Some researchers believe bhd syndrome is underdiagnosed, making it difficult to determine its true frequency in the general population.
What are the signs and symptoms of birthoggdube syndrome. It is a rare clinicopathologic condition named after the three canadian physicians who reported the syndrome in 1977. Birthogg dube syndrome is characterized by multiple noncancerous benign skin tumors, particularly on the face, neck, and upper chest. Painless, small, papular skin lesions develop gradually over the scalp, face, neck, chest and back.
Birthoggdube bhd syndrome is an autosomal dominant. Birthoggdube syndrome top 25 questions birthoggdube. 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. Comedonal and cystic fibrofolliculomas in birthoggdube syndrome. Birthoggdube syndrome is also known as fibrofolliculoma with trichodiscoma and acrochordon. Birthoggdube syndrome bhd is an autosomal dominant. The clinical diagnosis of birthoggdube syndrome bhds was corroborated by.
Lung cysts related to bhd have not been associated with longterm disability or fatality. The absence of a mutation, therefore, does not eliminate the possibility of a diagnosis of birt hogg dube syndrome. In birthoggdube syndrome, papules identified clinically as acrochordons are not evaluated histologically as a routine. These asymptomatic benign hair follicle hamartomas growths are fibrofolliculomas and trichodiscomas. About 600 families kindreds affected with bhd have been described to date in the medical literature. Birthoggdube syndrome bhd, a genodermatosis characterized by multiple hamartomas of the hair follicle fibrofolliculoma, predisposes individuals to an increased risk of developing renal. Birthoggdube syndrome is an autosomal dominant condition characterized by a triad of fibrofolliculomas, trichodiscomas, and acrochordons. Extrarenal radiographic and dermatologic findings in birthoggdube syndrome several extrarenal findings are highly associated with bhd syndrome, some of which can. In 1977, birt, hogg, and dube described a pedigree in which several family members had skin lesions, consisting of. The condition is caused by germline mutations in the flcn gene, which encodes folliculin.
Bhd is an autosomal dominant disorder caused by mutations in the folliculin flcn. Birthoggdube syndrome bhds is a rare autosomal dominant genodermatosis characterized by benign growth of the hair follicles, the presence of pulmonary cysts, spontaneous pneumothorax, and bilateral renal tumors that are usually hybrid oncocytic or multifocal chromophobe renal cell carcinoma. 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. Birthoggdube syndrome with simultaneous hyperplastic. Birthoggdube bhd syndrome is a rare autosomal dominant condition that is associated with fibrofolliculomas, pulmonary cysts, renal cysts, and renal cancer. Birt hogg dube syndrome is an autosomaldominant genodermatosis manifested by numerous 2 to 4mm fleshcolored papules affecting the face fig.
Birthoggdube syndrome genetic and rare diseases information. Birt hogg dube bhd syndrome is a recently discovered autosomaldominant disease caused by a mutation in the folliculin gene. I would like for this page to be a place for those. 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. Join researchgate to discover and stay uptodate with the latest research from leading experts in birthoggdube syndrome and many other. Presence of certain extrarenal findings can aid in making a specific diagnosis of bhd syndrome. Birt hogg dube bhd syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. Birthoggdube syndrome nord national organization for rare.
Join researchgate to discover and stay uptodate with the latest research from leading experts in birt hogg dube syndrome and many other. Aug 23, 2019 acrochordons usually demonstrate papillomatosis, hyperkeratosis, and regular acanthosis. Birthoggdube syndrome bhd is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. Birthoggdube syndrome bhd is an autosomal dominant inherited disorder characterised by fibrofolliculomas, renal tumours, pulmonary cysts and pneumothorax. Enable javascript to view the expandcollapse boxes. Introduction this pamphlet offers a brief description of birthoggdube syndrome bhd, its com mon symptoms and recommended management. Birthoggdube bhd syndrome is a rare inherited disorder characterized by small, firm, domeshaped papules fibrofolliculomas distributed over the forehead, face, neck and upper trunk. There is no recommended management of the lung cysts. The treatment of bhd syndrome is directed toward the specific symptoms that are apparent in each individual.
Since the first description in 1977, many conditions have been described in association with its clinical. Canadian physicians birt, hogg and dube first described it in 1977. Hornsteinknickenberg syndrome or birthoggdube syndrome bhds, as it came to be more commonly known, is an apparently rare, autosomal dominant genodermatosis caused by mutations of the folliculin codifying gene flcn located on the 17p11. Since the initial report, several other cases have been described. Birthoggdube syndrome bhds genetic testing clinician. No specific medical treatment exists for the skin lesions of birthoggdube syndrome. Top 25 questions of birthoggdube syndrome discover the top 25 questions that someone asks himselfherself when is diagnosed with birthoggdube syndrome birthoggdube syndrome forum.
Genetic testing for birthogg dube syndrome bhds flcn gene. Other associated skin lesions include trichodiscomas and acrocordons. Koenens tumor and facial angiofibromas in a case of birthoggdube syndrome. Birthogg dube syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. The birthoggdube bhd syndrome is a very rare autosomal dominant form of genodermatosis. Birthoggdube syndrome an overview sciencedirect topics. Mutations in flcn cause birthoggdube syndrome, an autosomal dominant disorder notable for development of cutaneous fibrofolliculomas or trichodiscomas, a variety of renal tumors, and spontaneous pneumothorax due to cystic lung changes. A cutaneous contribution to growing evidence of a relationship with tuberous sclerosis complex.
Its signs and symptoms vary among affected individuals. Bhd syndrome is caused by germline mutations in the folliculin gene, which is located on chromosome 17 and can be inherited. Pathogenic variants in this gene are associated with birthoggdube syndrome bhd. Birthoggdube syndrome bhd is a hereditary condition associated with multiple noncancerous benign skin tumors, lung cysts, and an increased risk of kidney lesions cysts, benign tumors, and kidney cancer.
Cureus a case of birthoggdube syndrome and multiple. Birthoggdube syndrome presenting as multiple oncocytic. Birthoggdube syndrome nord national organization for. Symptoms of bhd generally do not appear until adulthood. Preventive measures are aimed mainly at early diagnosis and treatment of renal. Birthoggdube syndrome bhds is characterized by an increased risk of unique benign skin tumors, pulmonary cysts, spontaneous pneumothorax, and various types of renal tumors and renal cell carcinoma rcc. Birthoggdube syndrome is characterized by multiple noncancerous benign skin tumors, particularly on the face, neck, and upper chest. The purpose of this article is to describe the ct characteristics of cysts in patients with birthoggdube syndrome and to note other thoracic findings. Birt hogg dube syndrome is an autosomal dominant condition characterized by a triad of fibrofolliculomas, trichodiscomas, and acrochordons. The purpose of this article is to describe the ct characteristics of cysts in patients with birt hogg dube syndrome and to note other thoracic findings. Birthogg dube syndrome bhd, a genodermatosis characterized by multiple hamartomas of the hair follicle fibrofolliculoma, predisposes individuals to an increased risk of developing renal. Although the skin tumours are benign, they may become disfiguring if. The pulmonary cysts and repeated episodes of pneumothorax are the clinical hallmarks for discovering families affected by the syndrome.
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