Ichthyoses are hereditary cornification disorders that occur in isolation (nonsyndromic) or with associated internal diseases (syndromic) and can lead to life-threatening complications. The identification of the genetic causes has led to an understanding of the molecular mechanisms, but also to reclassification. The pathological changes in skin biopsies were also more precisely characterized. Certain histological patterns could be defined, which are based on the defects of epidermal differentiation but also on the inflammatory pattern. Complementary histo- and immunohistochemical methods sometimes allow a precise diagnosis, or at least a limitation of the differential diagnoses.
Keywords: Epidermis; Genodermatoses; Histology; Immunohistochemistry; Pattern analysis.