Ichthyoses

Abstract

Hereditary ichthyoses are Mendelian disorders of cornification that affect the entire skin and are characterized by thickening of the corneal layer and scaling. Functionally, ichthyoses may be regarded as disorders of the epidermal barrier. Clinical diagnostics and management of the multitude of extremely rare diseases are challenging. Therefore, classification is based on a clinico-genetic algorithm that distinguishes between non-syndromal and syndromal forms. The differentiation of more common ichthyoses, i.e., ichthyosis vulgaris and/or X-chromosomal ichthyosis, from rare congenital types is of practical importance. In general, acquired ichthyosiform skin conditions should be excluded. In this chapter, the complex genetic background of the ichthyoses is explained. To clarify the clinical view it is emphasized with detailed pictorial material. Therapeutic recommendations follow the maxim that much can be achieved for the patients by symptomatic therapy measures.