Advances in autosomal recessive congenital ichthyosis

Up to now, the spectrum of autosomal recessive congenital ichthyosis is still unclear. There is often an overlap between genotypes and phenotypes of this entity. Although a lot of studies, including biochemical assay, mutation and corresponding protein-coding function analysis, have been carried out, the relationship has not been established clearly between its genotypes and phenotypes. The search for new gene loci plays a crucial role in clarifying the heterogeneity of this disease. Until now, at least 6 susceptibility loci have been confirmed to be associated with the disease. In addition, some scholars have tried to establish the relationship between gene mutations and electron microscopy findings in this disease. This paper presents recent progresses in studies on the relationship between electron microscopic classifications of and gene mutations in this disease. Key words: Ichthyosis;  Genes;  Mutation;  Microscopy, electron