A novel compound heterozygous variant in the LLS gene is associated with nonsyndromic hypotrichosis

This report described a patient presenting with hypotrichosis simplex associated with compound heterozygosity for two novel LSS mutations. The clinical manifestations associated with mutations in the LSS gene, which is involved in sterol synthesis, are highly variable, ranging from simple hypotrichosis to alopecia with intellectual disability or cataracts. The identification of more patients and further functional studies are needed to improve the understanding of the pathophysiological mechanisms of LSS-related conditions.