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Birt-Hogg-Dube syndrome

A hereditary condition associated with multiple benign skin tumors, lung cysts, and an increased risk of kidney lesions

Prevalence

1-9 / 1 000 000

331-2,979

US Estimated

513-4,622

Europe Estimated

Age of Onset

ICD-10

D23.9

Inheritance

Autosomal dominant

Autosomal recessive

Mitochondrial/Multigenic

X-linked dominant

X-linked recessive

5 Facts you should know

FACT

Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with 3 main clinical findings: benign skin tumors (fibrofolliculomas), lung cysts and/or history of pneumothorax, and various types of renal tumors

FACT

The symptoms seen in each family are unique and can include any combination of the 3 symptoms

FACT

Fibrofolliculomas are the most common manifestation, found on the face and upper trunk in over 80% of people with BHDS over the age of 40

FACT

Pulmonary cysts are also common, but only 24% of people with BHDS eventually experience a spontaneous pneumothorax

FACT

Kidney tumors, both cancerous and benign, occur in 14%–34% of people with BHDS; the associated kidney cancers are often rare hybrid tumors

Interest over time

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