They may also have lung cysts and a condition called a pneumothorax, in which all or. Birthoggdube syndrome is an autosomal dominant genodermatosis characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax nickerson et al. Purpose birthoggdube syndrome bhd is a rare disorder caused by mutations in the gene that encodes folliculin flcn and is inherited in an autosomal dominant manner. Birthogg dube syndrome is characterized by multiple noncancerous benign skin tumors, particularly on the face, neck, and upper chest. Birthogg dube syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Review of renal tumors associated with birt hogg dube syndrome with focus on clinical and pathobiological aspects. We recommend genetic testing in all cases of suspected birthoggdube syndrome even without family history as spontaneous mutations may be a common cause of this disorder. Zbar b, alvord wg, glenn g, turner m, pavlovich cp, schmidt l et. Birthoggdube syndrome bhds is a rare, complex, genetic disorder with three main clinical findings.
These benign noncancerous tumors hamartomas of the hair follicle are called fibrofolliculomas. Comedonal and cystic fibrofolliculomas in birthoggdube syndrome. 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. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. Patients with birthoggdube syndrome have an increased risk of kidney cancer and benign kidney tumors. G191fsx31 mutation in heterozygosity on exon 6 of the folliculin gene. These growths typically first appear in a persons twenties or thirties and. Evaluation and management of renal tumors in the birt hogg dube syndrome. Its signs and symptoms vary among affected individuals. Symptoms of bhd generally do not appear until adulthood. Mikesell kv, kulaylat an, donaldson kj, saunders bd, crist hs. Others are just recently being recognized, both clinically and pathologically, for example birthoggdube syndrome.
The computerized tomography scan revealed multiple cysts on both lungs. Fibrofolliculomas are a type of benign skin tumor specific to bhds. Birthoggdube syndrome nord national organization for. Birthoggdube syndrome bhd is an autosomal dominant condition characterised clinically by skin. Birthoggdube syndrome is associated with a variety of histologic types of renal tumors, including chromophobe renal cell carcinoma rcc, benign renal oncocytoma, clearcell rcc. If you have birthoggdube syndrome, each of your children has a 50. Definition of birthoggdube syndrome nci dictionary of. 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.
The clinical diagnosis of birthoggdube syndrome bhds was corroborated by identification of a novel frameshift c. The symptoms seen in each family are unique, and can include any combination of the three symptoms. The presence of multiple and typical benign hair follicle tumors highlights the role of the dermatologist in. Birthoggdube syndrome bhd is a rare autosomal dominant inherited cancer syndrome characterized by benign tumors of the hair follicle fibrofolliculoma, pulmonary cysts. Pdf birthoggdube syndrome bhd is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous. About 600 families kindreds affected with bhd have been described to date in the medical. Birthoggdube bhd syndrome is a rare complex genetic skin disorder genodermatosis characterized by the development of skin papules generally located on the head, face and upper torso. 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. In most cases, birthoggdube syndrome symptoms develop after the. Clinical introduction pamphlet is written especially for medical professionals and you may find it helpful to share with your doctor. Birthoggdube bhd syndrome is characterized by skin lesions, kidney tumors, and pulmonary cysts that may be associated with pneumothorax. Birt hogg dube syndrome, fibrofolliculoma, spontaneous pneumothorax, renal neoplasm. I would like for this page to be a place for those.