Conflicts of interest None declared.
Kindler syndrome: a focal adhesion genodermatosis
Article first published online: 16 DEC 2008
© 2008 The Authors. Journal Compilation © 2008 British Association of Dermatologists
British Journal of Dermatology
Volume 160, Issue 2, pages 233–242, February 2009
How to Cite
Lai-Cheong, J.E., Tanaka, A., Hawche, G., Emanuel, P., Maari, C., Taskesen, M., Akdeniz, S., Liu, L. and McGrath, J.A. (2009), Kindler syndrome: a focal adhesion genodermatosis. British Journal of Dermatology, 160: 233–242. doi: 10.1111/j.1365-2133.2008.08976.x
- Issue published online: 16 JAN 2009
- Article first published online: 16 DEC 2008
- Accepted for publication 5 September 2008
- focal adhesion;
- inherited skin disease;
Kindler syndrome (OMIM 173650) is an autosomal recessive genodermatosis characterized by trauma-induced blistering, poikiloderma, skin atrophy, mucosal inflammation and varying degrees of photosensitivity. Although Kindler syndrome is classified as a subtype of epidermolysis bullosa, it has distinct clinicopathological and molecular abnormalities. The molecular pathology of Kindler syndrome involves loss-of-function mutations in a newly recognized actin cytoskeleton-associated protein, now known as fermitin family homologue 1, encoded by the gene FERMT1. This protein mediates anchorage between the actin cytoskeleton and the extracellular matrix via focal adhesions, and thus the structural pathology differs from other forms of epidermolysis bullosa in which there is a disruption of the keratin intermediate filament–hemidesmosome network and the extracellular matrix. In the skin, fermitin family homologue 1 is mainly expressed in basal keratinocytes and binds to the cytoplasmic tails of β1 and β3 integrins as well as to fermitin family homologue 2 and filamin-binding LIM protein 1. It also plays a crucial role in keratinocyte migration, proliferation and adhesion. In this report, we review the clinical, cellular and molecular pathology of Kindler syndrome and discuss the role of fermitin family homologue 1 in keratinocyte biology.