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

hypotrichosis type 14 ectodermal dysplasia type 14 LSS gene TSPEAR gene compound heterozygous variants oligogenic effects digenic inheritance

TLDR A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.

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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research Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2

8 citations , April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology”

Certain genetic changes in the LSS gene cause a rare skin and hair condition.

research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

55 citations , November 2018 in “American journal of human genetics”

Mutations in the LSS gene cause a rare type of hereditary hair loss.