Kindler surprise: mutations in a novel actin-associated protein cause Kindler syndrome.

[kindler syndrome]

Kindler syndrome is an autosomal recessive genodermatosis characterized by acral blistering in neonates and diffuse , progressive poikiloderma in later life . Other clinical features include photosensitivity , premature skin ageing and severe periodontal disease . Two groups have recently shown that the molecular basis of Kindler syndrome is loss of a novel epidermal protein , kindlin-1 , encoded by the gene KIND 1 . Two additional kindlin proteins , kindlin-2 and kindlin-3 , have also been described . Kindlin-1 is considered to be a component in the linkage of the actin cytoskeleton to the extracellular matrix and as such is proposed to have both structural and cell-signalling functions . Kindler syndrome is therefore the first skin fragility syndrome due to disruption of the actin-extracellular matrix system .