July 2025 in “Human Genomics” This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR 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.
June 2022 in “Dermatologic Therapy” This case report describes a 14-year-old girl with congenital hypotrichosis who experienced improved hair density and thickness after 3 months of treatment with oral minoxidil.
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May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
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June 1993 in “Veterinary Dermatology” This case report describes a female Rottweiler with generalized congenital hypotrichosis, where most skin biopsies showed a complete absence of follicular development, marking only the second documented case of this genodermatosis in female dogs.
