CYLD‐related cutaneous syndrome: variable p.Pro482fs*6 phenotype in five individuals from two unrelated families

A novel splicing CYLD variant associated with trichoepithelioma papulosum multiplex demonstrating intrafamilial severity variability

“…3 However, only one report has addressed possible severity variability in CCS, in conjunction with conditional variability. 4 Unlike their report, both of our patients demonstrated no conditional variability. We hypothesize that some other genetic and/or environmental modifying factors contributed to the intrafamilial heterogeneity.…”