Birt-Hogg-Dub é Syndrome: Another mTOR Phenomenon

Birt-Hogg-Dub é syndrome is an uncommon autosomal dominant systemic disorder with cutaneous findings notable for fibrofolliculomas or trichodiscomas on the scalp, face, neck, and trunk. These cutaneous signs are associated with bilateral renal cell carcinoma, benign renal cysts, pulmonary cysts, and spontaneous pneumothorax. Given its autosomal dominant inheritance pattern, the successful diagnosis of BHDS may elucidate a diagnosis in family members. BHDS results from a mutation in the FLCN gene encoding the folliculin protein, a transcriptional regulator of the mammalian target of rapamycin (mTOR) signali ng pathway.

Source: Clinics in Dermatology - July 27, 2022 Category: Dermatology Authors: Rohan R. Shah, W. Clark Lambert, Robert A. Schwartz Source Type: research