Birt-Hogg-Dube syndrome is a genetic disorder that causes skin lesions, lung cysts, and kidney tumors. It is caused by a mutation of the folliculin gene and can be life-threatening when symptoms show up in the lungs. Symptoms present differently in different people, and it is difficult to predict who will develop more severe symptoms.
Birt-Hogg-Dube syndrome (BHDS) is a genetic disorder that affects the face, neck, scalp, and upper torso skin. In some, BHDS can also affect the lungs and 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 that commonly appear in the face and neck areas of related individuals. In the years since this shared condition was discovered, researchers have discovered that Birt-Hogg-Dube syndrome also causes cysts to develop in the lungs and may be linked to kidney cancer.
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, the lesions that occur 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 can also develop cysts on one or both lungs. While a diagnosis of BHDS isn’t usually characterized as a life-threatening condition, when symptoms begin to show up in the lungs, it becomes a life-threatening disease. When symptoms of BHDS are present in the lungs, individuals may experience one or more cases of collapsed lungs during their lifetime due to an unnatural amount of air sitting in the chest cavity, also known as a pneumothorax. Symptoms of collapsed lung are shortness of breath, rapid heartbeat, and chest pain.
A diagnosis of Birt-Hogg-Dube syndrome doesn’t necessarily mean that symptoms will worsen and spread to the lungs or kidneys. In about a quarter of all cases, however, individuals with BHDS develop kidney tumors. In some of these individuals, the 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, as symptoms present differently in different people even within the same family. Also, because BHDS is such a rare disorder that it only occurs in about 60 families, researchers aren’t yet sure of the far-reaching effects of this disorder.
While most people begin developing skin lesions in early adulthood, Birt-Hogg-Dube syndrome lesions may not appear at all in some people who carry the gene. This is common in some inherited conditions, which increases the likelihood that parents will pass a genetic disorder on to their children without showing any symptoms of the disorder. In some cases, the external lesions may not even be apparent or may be surgically removed while growths may still form on the lungs and kidneys.
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