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Birt-Hogg-Dube syndrome (BHDS) is a genetic disorder affecting the face, neck, scalp and skin on the upper torso. In some, BHDS may also affect the lungs and the kidneys. BHDS was discovered in the 1970s by Dr. Birt, Dr. Hogg and Dr. Dube, three Canadian physicians who recognized the occurrence of unique lesions commonly appearing in the facial and neck areas of related individuals. In the years following the discovery of this shared condition, researchers have discovered that Birt-Hogg-Dube syndrome also causes cyst development on the lungs and may be linked to cancer in the kidneys.
Birt-Hogg-Dube syndrome is more specifically characterized by fibrofolliculomas, which grow from the hair follicles of a person with BHDS. Described as white cysts, fibrofolliculomas are usually benign, but are also found in patients with kidney cancer. In patients with Birt-Hogg-Dube syndrome, lesions occurring on the neck, upper-torso and face are the direct result of a genetic mutation of the folliculin gene.
Occasionally, a person with Birt-Hogg-Dube syndrome may also develop cysts on one or both lungs. While a diagnosis of BHDS is not usually characterized as a life-threatening condition, when symptoms begin to present in the lungs, it becomes a potentially fatal disease. When BHDS symptoms present in the lungs, individuals may experience one or more instances of collapsed lungs during a lifetime due to an unnatural amount of air located in the chest cavity, also known as pneumothorax. Symptoms of lung collapse are shortness of breath, a rapid heart beat and pain in the chest.
A diagnosis of Birt-Hogg-Dube syndrome does not necessarily mean that symptoms will worsen by spreading to the lungs or kidneys. In approximately one-fourth of all cases, however, individuals with BHDS do develop tumors on the kidneys. In some of these individuals, tumors are cancerous and in others they are not. Researchers find it difficult to predict who will develop more severe symptoms of Birt-Hogg-Dube syndrome and who will not, since symptoms present differently in different people even within the same family. Also, because BHDS is such a rare disorder only occurring in approximately 60 families, researchers are not yet sure of the far-reaching effects of this disorder.
While most people begin to develop skin lesions in early adulthood, Birt-Hogg-Dube syndrome lesions may not appear at all on some people who carry the gene. Such is common in certain hereditary conditions, which increases the likelihood of parents passing a genetic disorder to children without presenting any symptoms of the disorder themselves. In some instances, outer lesions may also not be apparent or may be surgically removed while growths on the lungs and kidneys may still form.