Ichthyosis, Follicular Atrophoderma, And Hypotrichosis Caused By Mutations In ST14 Is Associated With Impaired Profilaggrin Processing

The study investigated the genetic basis of a syndrome involving ichthyosis, follicular atrophoderma, and hypotrichosis in two consanguineous families from the United Arab Emirates and Turkey. Researchers identified mutations in the ST14 gene, which encodes the serine protease matriptase, as the cause. These mutations impaired profilaggrin processing, crucial for skin barrier function and hair formation, leading to a complete loss of matriptase and affecting skin and hair development. The study involved 14 family members, including six affected individuals, and highlighted the role of matriptase in epidermal differentiation and its importance in maintaining skin and hair health.