Birt-Hogg-Dubé, syndrome
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(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