Oral Presentations

Abstract

A number of genodermatoses are characterized by distinct morphological markers which have been and are used for classification and diagnosis as well as for identifying causative gene mutations and pathogenetic pathways. Various types of animal models and organotypic cell cultures have been established to provide further insight into disease mechanisms and treatment. Selected examples are: (i) a spontaneous rat model for dominant epidermolysis bullosa revealing similar variability of anchoring fibril expression as in human patients; (ii) PNPLA1 as a new gene involved in autosomal recessive congenital ichthyosis pathology identified from a Golden Retriever breed spontaneously affected by lamellar ichthyosis; (iii) knockout mice for lipoxygenases expressing differential skin barrier defects and compensatory hyperkeratosis; (iv) a long-term skin-humanized mouse model for transglutaminase 1-deficient lamellar ichthyosis, obviously in some respects advantageous to organotypic cell cultures and successfully having been used for enzyme substitution therapy; (v) Persian cat with classical Ehlers-Danlos syndrome. Investigation of such monogenetic disease models can help to understand causal correlations between pathology and clinical manifestations and provide insights towards developing and evaluating novel causal therapies.