Abstract: Objective: To determin the mutation of a patient with autosomal recessive ichthyosis and the efficacy of 0.5% ceramide cream. Methods: The clinical data of the proband were collected and DNA was extracted from the peripheral blood of the proband and his relatives, and high-throughput sequencing of relevant genes was performed using sequence capture technology, and the mutation sites were verified for one generation. The proband was treated with topical 0.5% ceramide cream and followed up for 10 months. Results: The histopathology of the proband's skin lesions was consistent with the pathological changes of ichthyosis. Whole-genome exome sequencing and Sanger sequencing confirmed that the proband had compound heterozygous mutations in the ALOXE3 gene (missense variants c.1208A>G:p.H403R and a frameshift variant c.102dup:p.K35Qfs*29). The mother (missense mutation c.1208A>G:p.H403R) and father (frameshift mutation c.102dup:p.K35Qfs*29) of the proband were carriers of a single mutation, respectively. The proband was treated with 0.5% ceramide cream for 10 months. The dry skin and brown scales were significantly improved. Conclusion: The compound heterozygous mutation of ALOXE3 gene may be the cause of this autosomal recessive ichthyosis and 0.5% ceramide cream is effective in treating this disease.

Key words: autosomal recessive congenital ichthyosis, ALOXE3 gene, compound heterozygous mutation, ceramide cream