Birt-Hogg-Dube Syndrome (BHDS) Treatment & Management

Updated: Aug 23, 2019
  • Author: Krista K Buckley, DO; Chief Editor: Dirk M Elston, MD  more...
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Treatment

Medical Care

No specific medical treatment exists for the cutaneous lesions of Birt-Hogg-Dubé syndrome (BHDS). Topical rapamycin failed to demonstrate cosmetic improvement of fibrofolliculomas in Birt-Hogg-Dubé syndrome patients. [71]

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Surgical Care

Surgical removal has provided definitive treatment of solitary perifollicular fibromas.

Electrodesiccation may be helpful for the removal of multiple lesions; however, lesions can recur. [72] Dermabrasion has been suggested as a treatment option. Lesions may recur. Several cases of Birt-Hogg-Dubé syndrome cutaneous lesions treated successfully with carbon dioxide and Er:YAG laser skin resurfacing have been reported. [73, 74]

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Consultations

The principle concern of Birt-Hogg-Dubé syndrome is comorbid internal neoplasms. Associated conditions most commonly include renal cell carcinomas, pulmonary cysts, and spontaneous pneumothoraces.

Refer patients with Birt-Hogg-Dubé syndrome to a family medicine or internal medicine physician for annual physical examinations and screening using renal ultrasonography and CT scanning of the abdomen and pelvis. Screening chest radiography should also be performed.

Consider referral of patients to a gastroenterologist for colonoscopy.

Refer patients to a genetic counselor, because Birt-Hogg-Dubé syndrome is a genodermatosis. Consider genetic testing to confirm the diagnosis in patients suspected of having Birt-Hogg-Dubé syndrome.

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Prevention

Birt-Hogg-Dubé syndrome cannot be prevented, but associated findings of renal carcinomas, pulmonary cysts, and pneumothoraces can be monitored.

Advise Birt-Hogg-Dubé syndrome patients regarding the increased risk of pneumothorax with activities altering ambient pressure, such as scuba diving and air travel, particularly if they have chest pain or shortness of breath. [25]

Encourage smoking cessation in Birt-Hogg-Dubé syndrome patients as smoking may be a risk factor for spontaneous pneumothorax and renal cancer.

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