Hereditary Disorders of Keratinization

Genodermatoses are a heterogeneous group of inherited disorders associated with cutaneous manifestations. Hereditary keratinization disorders are marked by dry skin, hyperkeratosis, and scales. They are caused by mutations in several genes related to skin barrier formation, resulting in abnormal differentiation and desquamation of the epidermis. The clinical manifestations can be limited to the cutaneous structures or associated with extracutaneous manifestations. This group of genetic skin disorders includes various forms of ichthyosis (diffuse keratoderma), palmoplantar keratoderma, and dyskeratosis follicularis (abnormal follicular keratinization).