Rare Medical News

5 Facts you should know about

Birt-Hogg-Dube syndrome

fivefacts-light.svg

1

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.

2

The symptoms seen in each family are unique

and can include any combination of the three symptoms.

3

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.

4

Pulmonary cysts are also common,

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

5

Kidney tumors, both cancerous and benign,

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

Rare Medical News