Features include always present findings: Sparse hair; and common findings: Absent axillary hair, Sparse body hair, Short eyelashes, and Sparse pubic hair.

LSS encodes lanosterol synthase (732 aa). Key enzyme in the cholesterol biosynthesis pathway. Catalyzes the cyclization of (S)-2,3 oxidosqualene to lanosterol, a reaction that forms the sterol nucleus. Highest expression in Brain Spinal cord cervical c-1 (93.6 TPM) and Pituitary (81.3 TPM).

Hypotrichosis 14 is associated with mutations in the LSS gene on chromosome 21.

The LSS protein participates in Expression of Lanosterol Synthase (LSS), Squalene 2,3-epoxide cyclizes, forming lanosterol, and SREBP1A,2:LSS gene pathways.

LSS is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Genetic testing for LSS is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 1 always present feature, 4 common features.

No clinical trials have been registered for hypotrichosis 14.

6 publications have been identified in PubMed for hypotrichosis 14. Research spans Case Report / Case Series (67%), Review / Meta-Analysis (17%), and Epidemiology / Natural History (17%).

Recent Publications

• Xu Y (2026). [PMID: 41640519](https://pubmed.ncbi.nlm.nih.gov/41640519/). *Front Med (Lausanne)*. [Case Report / Case Series]

• Bao L (2025). [PMID: 40364812](https://pubmed.ncbi.nlm.nih.gov/40364812/). *Front Pediatr*. [Case Report / Case Series]

• Zhang Y (2025). [PMID: 40696433](https://pubmed.ncbi.nlm.nih.gov/40696433/). *Hum Genomics*. [Review / Meta-Analysis]

• Shaheen EA (2025). [PMID: 39845463](https://pubmed.ncbi.nlm.nih.gov/39845463/). *JAAD Case Rep*. [Case Report / Case Series]

• Chen Y (2025). [PMID: 39436000](https://pubmed.ncbi.nlm.nih.gov/39436000/). *J Dermatol*. [Case Report / Case Series]

• Wang Q (2025). [PMID: 41306484](https://pubmed.ncbi.nlm.nih.gov/41306484/). *Mol Vis*. [Epidemiology / Natural History]