LSS and epidermolytic palmoplantar keratoderma, 1: LSS variants exhibit considerable phenotypic heterogeneity, initially linked to hypotrichosis (OMIM 618275; ORPHA 55654) (2, 6) and later associated with alopecia–intellectual disability syndrome (OMIM 618840; ORPHA 2850), cataracts (OMIM 616509; ORPHA 91492; ORPHA 98994), and palmoplantar keratoderma–congenital alopecia syndrome (OMIM 212360; ORPHA 1366), all of which are inherited as autosomal recessive genetic disorders.