Hornstein-Birt-Hogg-Dubé syndrome
Hornstein-Birt-Hogg-Dubé syndrome (BHD) is a rare genetic disorder characterized by skin lesions, lung cysts, and an increased risk of certain types of tumors. The syndrome is named after the three physicians who first described it in 1977: Dr. Walter Hornstein, Dr. Arthur R. Birt, and Dr. Robert Dubé.
Etiology[edit | edit source]
BHD is caused by mutations in the Folliculin (FLCN) gene, which provides instructions for making a protein that suppresses tumor growth. This protein is found in many types of cells throughout the body, where it likely plays a role in cellular processes such as regulation of cell growth and division (cell cycle), and the process by which cells mature to carry out specific functions (cell differentiation).
Symptoms[edit | edit source]
The most common symptoms of BHD are skin lesions, lung cysts, and kidney tumors. Skin lesions may include fibrofolliculomas, trichodiscomas, and acrochordons. Lung cysts can lead to spontaneous pneumothorax, a condition in which air or gas collects in the pleural space causing the lung to collapse. Kidney tumors associated with BHD are often hybrid oncocytic tumors, chromophobe renal cell carcinomas, or oncocytomas.
Diagnosis[edit | edit source]
Diagnosis of BHD is based on clinical criteria and can be confirmed by genetic testing. The clinical criteria include the presence of multiple fibrofolliculomas or trichodiscomas, lung cysts, a history of spontaneous pneumothorax, and kidney tumors. Genetic testing involves sequencing the FLCN gene to identify mutations.
Treatment[edit | edit source]
There is currently no cure for BHD. Treatment is focused on managing symptoms and preventing complications. This may include surgical removal of skin lesions and kidney tumors, and management of lung cysts and pneumothorax.
Epidemiology[edit | edit source]
BHD is a rare disorder, with an estimated prevalence of 1 in 200,000 individuals. It affects both males and females of all ages and ethnicities.
See also[edit | edit source]
References[edit | edit source]
NIH genetic and rare disease info[edit source]
Hornstein-Birt-Hogg-Dubé syndrome is a rare disease.
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