Journal
BRITISH JOURNAL OF DERMATOLOGY
Volume 160, Issue 2, Pages 233-242Publisher
WILEY
DOI: 10.1111/j.1365-2133.2008.08976.x
Keywords
actin; blistering; fermitin; FERMT1; focal adhesion; inherited skin disease; poikiloderma
Categories
Funding
- Wellcome Trust Research Training Fellowship
- British Skin Foundation
- Great Britain Sasakawa Foundation
- Dystrophic Epidermolysis Bullosa Research Association (DebRA, U.K.)
- Barbara Ward Children's Foundation
Ask authors/readers for more resources
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 beta 1 and beta 3 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available