While all seven ABHD5 missense mutations analyzed in this study resulted in a loss of function consistently associated with ichthyosis (specifically non-bullous congenital ichthyosiform erythroderma, NCIE) and ectopic lipid accumulation including Jordans’ anomaly, clinical manifestations such as hepatomegaly, neurological impairments, and myopathy varied among patients (Table 1), suggesting that mutation-specific effects on ABHD5 function contribute to the phenotypic heterogeneity observed in ABHD5-sEDD (4, 23, 24, 25, 26, 27). This evidence concerns the gene ABHD5 and epidermolytic ichthyosis.