There are 6 genes currently known to be associated with ichthyosis: ALOXE3, ALOX12B, TGM1, CYP4F22, NIPAL4, and ABCA12, and although thought to be unrelated, both the probands from family 1 and family 2 harboured an identical novel missense variant, c.G4676T, p.Gly1559Val in ABCA12, (see Figure 2). Here, TGM1 is linked to ichthyosis.