Mutations in MBTPS2 were also identified as genetic basis for IFAP syndrome with BRESHECK syndrome, keratosis follicularis spinulosa decalvans syndrome (KFSD; OMIM# 308800) and an X‐linked form of Olmsted syndrome (OMIM# 300918) (Bornholdt et al., 2013). Here, MBTPS2 is linked to BRESEK syndrome.