Birt-Hogg-Dubé syndrome: metalloproteinase activity and response to doxycycline

Birt-Hogg-Dubé syndrome: metalloproteinase activity and response to doxycycline

Birt-Hogg-Dubé syndrome (BHDS) is a rare, inherited autosomal-dominant genodermatosis caused by mutations in the folliculin gene (FLCN), which is located within the chromosomal band 17p11.2 (1). Patients with BHDS are prone to fibrofolliculomas, trichodiscomas, and acrochordons on the face, neck, and upper trunk; renal tumors; pulmonary cysts; and spontaneous pneumothorax (2-4). The pathogenesi...

Birt-Hogg-Dubé syndrome*

A 45-year-old woman with a history of renal carcinoma was observed for facial, cervical and truncal flesh-colored papules. Relatives had similar skin findings and a brother had repeated episodes of pneumothorax. The computerized tomography scan revealed multiple cysts on both lungs. A skin biopsy revealed a perifollicular fibroma. The clinical diagnosis of Birt-Hogg-Dubé syndrome (BHDS) was cor...

Birt-Hogg-Dubé syndrome: diagnosis and management.

Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant condition characterised clinically by skin fibrofolliculomas, pulmonary cysts, spontaneous pneumothorax, and renal cancer. The condition is caused by germline mutations in the FLCN gene, which encodes folliculin; the function of this protein is largely unknown, although FLCN has been linked to the mTOR pathway. The availability of DNA-based...

Familial pneumothoraces: Birt-Hogg-Dubé syndrome.

Case Report of Birt–Hogg–Dubé Syndrome

Birt-Hogg-Dubé (BHD) is a rare autosomal dominant inherited syndrome that is characterized by the presence of fibrofolliculomas and/or trichodiscomas, pulmonary cysts, spontaneous pneumothorax, and renal tumors. Here, the 2 patients we reported with renal cell carcinomas and dermatological features were suspected to be suffering from BHD syndrome. Blood samples of these patients were sent for w...