Are There Any Diseases Associated with Abnormal Keratohyalin Granules?

Yes, there are several skin diseases associated with abnormalities in keratohyalin granules. For example, ichthyosis vulgaris is linked to mutations in the gene encoding filaggrin, leading to a reduction or absence of this essential protein. This results in impaired keratinization and a compromised skin barrier, characterized by dry, scaly skin. Similarly, atopic dermatitis is often associated with filaggrin mutations, contributing to the skin's increased permeability and susceptibility to allergens and irritants.