Birt-Hogg-dube syndrome (BHD) is a very rare human genetic disorder. It is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax. Birt-Hogg-Dube syndrome condition in which benign tumors develop in hair follicles on the head, chest, back, and arms. These tumors are called fibrofolliculomas. Other characteristic skin abnormalities are trichodiscomas and acrochordons. A trichodiscoma is a tumor of the hair disc while an acrochordon is a skin tag. BHDS is uncommon in the United States. Several families have been reported since Birt, Hogg.
BHDS may result from the inactivation of a tumor suppressor gene, which results in the cutaneous hamartomas associated with internal neoplasia. Recently, the BHDS gene locus has been localized to chromosome 17p11.2. The condition is characterized by multiple noncancerous tumors of the hair follicles, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties. Additionally, affected individuals have a higher chance of developing cysts in the lungs and an abnormal collection of air in the chest cavity (pneumothorax) that may result in the collapse of a lung.
Mortality and morbidity associated with BHDS may be related to comorbid factors, such as renal cell carcinoma, pulmonary cysts, and spontaneous pneumothoraces. Treatment for patients with Birt-Hogg-Dube syndrome includes screening and management of pulmonary, renal, and gastrointestinal findings. In addition, skin findings may be treated for cosmetic concerns. Options for removal of these lesions include electrocautery, dermabrasion, and resurfacing with the carbon dioxide. Electrodesiccation may be helpful in removal of multiple lesions; however, lesions can recur.
