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doi:10.1016/j.beth.2014.05.002

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Eur Respir J, 2014

Because pathogenic variants in CYLD on16q12-q13 have been identified in individuals with each of these disorders, these syndromes are thought to represent different phenotypic manifestations of the same disease.[4] Penetrance of pathogenic variants in CYLD is reported to be 60% to 100%.[3,5] In one study, 85% of the BSS families, 100% of familial cylindromatosis families, and only 44% of MFT families were found to have pathogenic variants in CYLD .[6] A second locus for MFT maps to 9p21, but the gene for this locus remains unknown.[7] Given the potential for progressive enlargement, the preferred approach for cylindromas is ablation while the tumors are small and easily managed