Genotype/phenotype correlation in autosomal recessive lamellar ichthyosis

Correlation between genotype and phenotype has been examined in 14 families with autosomal recessive lamellar ichthyosis. The results show no consistent correlation between genetic and clinical classifications, suggesting that existing clinical criteria do not discriminate between the different molecular forms of the disease. Three loci have been associated with lamellar ichthyosis. In families with mutations on the TGM1 gene, seven different missense mutations and one splice mutation have been found.