Birt–Hogg–Dubé syndrome

Birt–Hogg–Dubé syndrome (BHD) is a rare genetic disorder that is associated with skin lesions, lung disease, and kidney tumors. It is named after the three scientists who first described the condition in 1977: Arthur R. Birt, Georgina R. Hogg, and Dr. William J. Dubé.

Symptoms and Signs

The symptoms of Birt–Hogg–Dubé syndrome can vary greatly from person to person. Some people may have only skin abnormalities, while others may also have lung and kidney problems. The skin lesions associated with BHD are often flesh-colored and can appear anywhere on the body, but they are most commonly found on the face, neck, and upper body.

People with BHD are also at an increased risk of developing certain types of kidney cancer. These tumors usually develop in adulthood and can be either benign (noncancerous) or malignant (cancerous).

Causes

Birt–Hogg–Dubé syndrome is caused by mutations in the Folliculin (FLCN) gene. This gene provides instructions for making a protein that is involved in regulating cell growth and division. Mutations in the FLCN gene lead to the production of an abnormal folliculin protein, which disrupts the normal regulation of cell growth and division. This can lead to the formation of tumors and cysts in the skin, lungs, and kidneys.

Diagnosis

The diagnosis of Birt–Hogg–Dubé syndrome is based on a clinical evaluation, detailed patient history, and a variety of specialized tests. These tests may include a skin biopsy to examine the skin lesions, imaging tests such as a CT scan or MRI to look for lung and kidney abnormalities, and genetic testing to identify mutations in the FLCN gene.

Treatment

There is currently no cure for Birt–Hogg–Dubé syndrome. Treatment is aimed at managing the symptoms and preventing complications. This may include surgery to remove skin lesions or kidney tumors, medications to manage lung disease, and regular monitoring to detect any new tumors or cysts.

See Also

• Genetic Disorders
• Skin Lesions
• Kidney Cancer
• Lung Disease

References

• Birt AR, Hogg GR, Dubé WJ. Hereditary multiple fibrofolliculomas with trichodiscomas and acrochordons. Arch Dermatol. 1977 Dec;113(12):1674-7.
• Toro JR, Glenn G, Duray P, et al. Birt-Hogg-Dubé syndrome: a novel marker of kidney neoplasia. Arch Dermatol. 1999 Oct;135(10):1195-202.

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