Birt-Hogg-Dubé syndrome , BHD (Abkürzung)
fibrofolliculomas with trichodiscomas and acrochordons
Hornstein-Knickenberg syndrome

Birt-Hogg-Dubé syndrome affects the skin and increases the risk of certain types of tumors.

They are characteristically seen in Birt-Hogg-Dubé syndrome.

Differential diagnosis of this condition includes the Birt-Hogg-Dubé syndrome and tuberous sclerosis.

Rarely, they can be associated with the Birt-Hogg-Dubé syndrome, Acromegaly and polycystic ovary syndrome.

Birt-Hogg-Dubé syndrome is caused by mutations in the FLCN gene (located at chromosome 17p11.2), which encodes a protein named folliculin.

FLCN mutations and lung lesions have also been identified in familial cases of pneumothorax where other features of Birt-Hogg-Dubé syndrome are absent.

Related polyposis conditions are familial adenomatous polyposis, attenuated familial adenomatous polyposis, Birt-Hogg-Dubé syndrome and MUTYH.

People with Birt-Hogg-Dubé syndrome also have an increased risk of developing cancerous or noncancerous kidney tumors (chromophobe renal cell carcinoma and oncocytoma, respectively) and possibly tumors in other organs and tissues.