ABSTRACT
This chapter discusses the hereditary form of Ichthyosis vulgaris (IV) and its association with atopic presentations. Genetic linkage has been established between IV and markers in the epidermal differentiation complex on chromosome 1q21. IV occurs worldwide in all races and affects males and females equally. Expression of profilaggrin is reduced or absent in the epidermis of IV patients and correlates with a reduction of keratohyalin granules on electron microscopy and clinical severity of the disorder. IV must be differentiated from other ichthyotic conditions such as the less common X-linked ichthyosis, lamellar ichthyosis, and acquired ichthyosis. Although significant advances in the discovery of associated mutations and molecular defects increased understanding of the pathophysiology of IV, only modest progress has been made in treatment paradigms within the last few decades. Effective symptomatic management without significant adverse effects remains a priority in ongoing research.
