Birt Hogg Dube Syndrome

Definition

Definition of Birt Hogg Dube Syndrome
Birt Hogg Dubé syndrome (BHD) is a human genetic disorder that involves susceptibility to renal cancer, renal and pulmonary cysts, and noncancerous tumors of the hair follicles. The disorder has been reported in more than 100 families worldwide, and it is inherited in an autosomal dominant pattern. The pattern of mutations and spectrum of symptoms are heterogeneous between individuals.

Symptoms

Symptoms of Birt Hogg Dube Syndrome
Birt–Hogg–Dubé syndrome affects the skin and increases the risk of certain types of tumors. 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. People with Birt–Hogg–Dubé syndrome also have an increased risk of developing cancerous or noncancerous kidney tumors (chromophobe renal cell carcinoma and oncocytoma, respectively) and possibly tumors in other organs and tissues. Additionally, affected individuals frequently develop cysts in the lungs that are at risk to rupture and cause an abnormal collection of air in the chest cavity (pneumothorax) that may result in the collapse of a lung.

Causes

Causes of Birt Hogg Dube Syndrome
Mutations in the FLCN gene, located on the short arm of chromosome 17 (17p11.2), cause Birt–Hogg–Dubé syndrome. These mutations are often passed from one generation to the next in an autosomal dominant fashion but can occur as a new mutation in an individual with no prior family history.

Diagnosis

Diagnosis of Birt Hogg Dube Syndrome
BHD can be suggested by clinical findings but is definitively diagnosed by molecular genetic testing to detect mutations in the FLCN gene. The classical clinical triad includes: 1) benign growths of the hair follicles, 2) pulmonary cysts and spontaneous pneumothorax, and 3) bilateral, multifocal renal tumors.

Prognosis

Prognosis of Birt Hogg Dube Syndrome
No specific medical treatment exists for the skin lesions of Birt Hogg Dube syndrome. Although the skin tumours are benign they may become disfiguring if multiple lesions occur. The following skin procedures may be helpful in removing lesions, although recurrence is common.

Treatment

Treatment of Birt Hogg Dube Syndrome
Despite the fact that there is no specific medical treatment exists for the cutaneous lesions of Birt Hogg Dubé syndrome (BHDS), there are several methods that can help in giving a relief to the affected person. Patient should consult to doctor and ask for surgical care. Consultation may also be a beneficial tool in case of Birt Hogg Dubé syndrome. 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.

Prevention

Prevention of Birt Hogg Dube Syndrome
Consult with your doctor.