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Birt-Hogg-Dubé Syndrome: Another mTOR Phenomenon

      Abstract

      Birt-Hogg-Dubé 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) signaling pathway. Like tuberous sclerosis, BHDS's clinical features may subside with the use of oral rapamycin for mTOR inhibition, a theoretical concept meriting exploration. Although its prevalence in the general population has been estimated at only 2 cases per million, BHDS has been detected in a few patients from the nearby Portuguese-lineage quarter of the city of Newark, a disproportionate prevalence possibly explained by the founder effect.

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