Ocular Involvement in Autoimmune Blistering Skin Diseases

Abstract

Kindler syndrome is a rare autosomal recessive genodermatosis characterised by trauma-induced skin blistering, poikiloderma, mucosal inflammation and variable ce:degrees of photosensitivity. In 2003, the molecular basis of Kindler syndrome was elucidated with the discovery of pathogenic mutations in the FERMT1 (also known as KIND1) gene. The FERMT1 gene encodes the focal adhesion protein fermitin family homologue 1, alternatively known as kindlin-1, which is implicated in integrin activation in human keratinocytes. To date, more than 50 different pathogenic mutations have been reported in the FERMT1 gene. In this chapter, the intricacies of Kindler syndrome are discussed with regard to the clinical presentation, pathogenesis and management.