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 … L Wang
    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.
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    Research cited in this study 2

    1. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2 ˜The œjournal of investigative dermatology/Journal of investigative dermatology · 2022
    2. Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex American journal of human genetics · 2018