What is a fibrofolliculoma?
Listen to pronunciation. (FY-broh-fuh-LIH-kyoo-LOH-muh) A benign tumor of the hair follicle that appears as a small, whitish papule. Fibrofolliculomas are typically found on the face, ears, neck, and upper torso.
What are the symptoms of Birt-Hogg-Dubé syndrome?
The symptoms of Birt-Hogg-Dubé syndrome vary from person to person. The most common symptoms are multiple, benign skin lesions, lung (pulmonary) cysts, increased risk of repeated collapsed lungs (pneumothorax) and kidney (renal) neoplasia (malignant and benign tumors).
How many people have Birt-Hogg-Dubé syndrome?
Birt-Hogg-Dubé syndrome is rare; its exact incidence is unknown. This condition has been reported in more than 400 families.
How do you get tested for Birt-Hogg-Dubé syndrome?
Genetic tests are usually done with a blood test. A small sample of blood is taken, DNA is extracted from blood cells, and the Folliculin gene is sequenced to look for a mutation. If a blood test is not an option, cheek swabs can be used in some cases. Only certified labs can do genetic testing for BHD.
What is a Trichofolliculoma?
Trichofolliculoma represents an uncommon hamartoma of hair follicle tissue, typically occurring on the face of adults. Clinical appearance of trichofolliculoma. The prognosis is excellent, and therapy is usually directed toward cosmetic improvement.
What is the FLCN gene?
The FLCN gene provides instructions for making a protein called folliculin. Researchers have not determined the protein’s function, but they believe it may act as a tumor suppressor. Tumor suppressors help control the growth and division of cells.
What is Birt Hogg?
Birt-Hogg-Dubé syndrome (BHD) is a hereditary condition associated with multiple non-cancerous (benign) skin tumors, lung cysts, and an increased risk of kidney lesions (cysts, benign tumors, and kidney cancer.) Symptoms of BHD generally do not appear until adulthood.
What is Birt Hogg Dube disease?
(birt-hog-doo-BAY SIN-drome) A rare, inherited disorder in which benign (not cancer) skin lesions called fibrofolliculomas form in the hair follicles on the face, neck, and chest. Patients with Birt-Hogg-Dubé syndrome have an increased risk of kidney cancer and benign kidney tumors.
Who discovered Birt Hogg Dube syndrome?
The syndrome was first well described in 1977, by three Canadian physicians, Arthur R. Birt, Georgina R. Hogg, and William J. Dubé.
How many people have BHD?
BHD is a rare disease with only roughly 600 reported families worldwide, however many researchers believe it is under diagnosed (3).
What is a Trichilemmoma?
(TRIH-kih-leh-MOH-muh) A benign tumor arising from the outer cells of the hair follicle. Enlarge. Trichilemmomas are benign tumors arising from the outer cells of the hair follicle. They are commonly found on the head and face, as shown.