Case Report: Compound heterozygous variants in LSS and TSPEAR genes causing hypotrichosis type 14 complicated with ectodermal dysplasia type 14

Coexisting <i>LSS</i> and <i>TSPEAR</i> variants may contribute to a phenotype of HYPT14 complicated by ED14 in this child. Because the variants remain VUS, genotype-phenotype inferences should be made cautiously. The findings raise the possibility that oligogenic effects may exacerbate ectodermal abnormalities. To our knowledge, this is the first reported case of digenic inheritance involving <i>LSS</i> and <i>TSPEAR</i>, which expands the clinical spectrum of <i>LSS</i>- and <i>TSPEAR</i>-associated disorders and supports consideration of broader genetic testing in children with congenital hypotrichosis and ectodermal features.