Birt-Hogg-Dubé, syndrome

[MIM 135 150]


(Fibrofolliculomas with trichodiscomas and acrochordons, Hornstein-Knickenberg syndrome)

Very rare. Autosomal dominant transmission of a mutation of the FLCN gene coding for folliculin (17p11.2). 


This genodermatosis combines:

-         skin lesions: fibrofolliculomas are hamartomas of hair follicles due to a proliferation of collagen and fibroblasts around the hair follicles: they present as whitish papules in dome, from 2 to 4 mm high; there are also skin appendages and trichodiscomas (proliferation of dermal components of the hair disk) 

-         lung cysts: cystic dilatation of alveolar spaces of varying size  surrounded by normal parenchyma and located close to the pulmonary vessels; serious risk of spontaneous pneumothorax (33-38 %)

-         renal tumours: benign (oncocytomas), malignant or mixed


Anesthetic implications: 

chest X-ray, avoid high inspiratory pressures in case of controlled ventilation.


References : 


Updated: November 2019