Rare Medical News

5 Facts you should know about

Birt-Hogg-Dube syndrome



BHDS is a rare, complex, genetic disorder

with three main clinical findings: benign skin tumors (fibrofolliculomas); lung cysts and/or history of pneumothorax; and various types of renal tumors.


The symptoms seen in each family are unique

and can include any combination of the three symptoms.


Fibrofolliculomas are the most common manifestation,

found on the face and upper trunk in over 80% of people with BHD over the age of 40.


Pulmonary cysts are also common,

but only 24% of people with BHD eventually experience a spontaneous pneumothorax.


Kidney tumors, both cancerous and benign,

occur in 14–34% of people with BHDS; the associated kidney cancers are often rare hybrid tumors.

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