“…At least five linkage loci (i.e., 12q23.2-24.1, 15q25.1-26.1, 18p11.3, 1p31.3-p31.1, 16q24.1-24.3) have been reported for the disseminated forms of PK which include DSAP, DSP, porokeratosis palmaris et plantaris disseminata (PPPD), and immunosuppression-induced porokeratosis (ISIP) ( Schamroth et al, 1997 ; Luan et al, 2011 ). However, only one causal gene, the mevalonate kinase gene ( MVK ) at 12q24, has been identified in DSAP and porokeratosis of Mibille (PM) ( Zhang et al, 2012 ; Li and Zhang, 2014 ; Zeng et al, 2014 ). Here we performed genetic analysis in 134 index patients with PK to identify additional causal genes and to establish new parameters for better differential diagnosis of PK.…”