Molecular Basis of Hereditary Hair Diseases

The document discusses the molecular basis of hereditary hair diseases, focusing on the role of specific genes expressed in hair follicles. It highlights that variants in these genes can cause hereditary hair diseases, which are categorized into non-syndromic and syndromic forms. The most common non-syndromic form in the Japanese population is autosomal recessive woolly hair, caused by pathogenic variants in the lipase H (LIPH) gene. Other types of hereditary hair diseases in Japan include Marie-Unna hereditary hypotrichosis, hypohidrotic ectodermal dysplasia, and tricho–rhino–phalangeal syndrome. The study emphasizes the importance of understanding these disorders for correct diagnosis and patient care. It also suggests that further research into the molecular basis of these diseases can reveal crucial genes for hair follicle development and morphogenesis in humans.