We aimed to detect the pathogenic gene mutations in a patient with lamellar ichthyosis (LI). The genomic DNA of the patient was examined using high-throughput whole-exome sequencing to identify the causative mutations. Compound heterozygous mutations of c.1187G>T (p.Arg396Leu) and c.607C>T (p.Gln203*) were found in the transglutaminase-1 gene (TGM1) on chromosome 14 of the proband. The mutations stated above have been reported to impair the function of TGM1 protein and to be pathogenic. Our data suggest that the proband carried compound heterozygous mutations of c.1187G>T(p.Arg396Leu) and c.607C>T(p.Gln203*) in TGM1, which were in the trans position and the cause of his disease. We also found some dermoscopic in this patient which may be specific in LI.

Long-term systemic treatment with acitretin for severe hyperkeratotic disorders is needed to maintain quality of life of afflicted patients, but treatment has been limited owing to its potential side-effects including skeletal malformations, particularly for children during their growth and development. A retrospective investigation was conducted with three children afflicted with a severe hyperkeratotic disorder, namely Darier\'s disease, bullous ichthyosiform erythroderma or lamellar ichthyosis, who were continuously maintained on 0.2-0.3 mg/kg per day acitretin for more than 12 years after an initial period at a larger acitretin dose to bring each disease under control. The patients had good responses to acitretin treatment, which was assessed for safety, skeletal abnormalities, growth retardation and other potential side-effects. Acitretin monotherapy was an effective treatment for these children, and maintenance doses were well tolerated with no skeletal or other observable side-effects during the course of the study.