Case Report: Compound Heterozygous Variants in LSS and TSPEAR Genes Causing Hypotrichosis Type 14 Complicated with Ectodermal Dysplasia Type 14

    January 2026 in “ Frontiers in Medicine ”
    Yonglong Xu, Dingquan Yang, Ying Xie, Qingwu Liu, Shuying Lv, Meijiao Du, L Wang
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    Studysummary This study suggests that coexisting <i>LSS</i> and <i>TSPEAR</i> variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing. Our plain-language summary of this paper — not a Tressless recommendation.
    This case report describes a child with hypotrichosis type 14 (HYPT14) complicated by ectodermal dysplasia type 14 (ED14) due to compound heterozygous variants in the LSS and TSPEAR genes. The variants are classified as variants of uncertain significance (VUS), so genotype-phenotype correlations should be approached with caution. The study suggests that oligogenic effects might worsen ectodermal abnormalities and highlights this as the first known case of digenic inheritance involving these genes. This expands the understanding of disorders associated with LSS and TSPEAR and suggests the need for broader genetic testing in similar cases.
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