Kindler syndrome.

[kindler syndrome]

Kindler syndrome is a rare , autosomal recessive skin fragility disorder characterized by blistering in infancy , followed by photosensitivity and progressive poikiloderma . Ultrastructural examination reveals marked basement membrane reduplication and variable levels of cleavage at the dermal-epidermal junction . The molecular pathology underlying Kindler syndrome has recently been shown to involve loss -of-function mutations in a novel gene , KIND 1 , encoding kindlin-1 . Immunofluorescence , gene expression and cell biology studies have shown that kindlin-1 is expressed mainly in basal keratinocytes and plays a role in the attachment of the actin cytoskeleton via focal contacts to the extracellular matrix . Thus , Kindler syndrome is the first genodermatosis caused by a defect in actin-extracellular matrix linkage rather than the classic keratin-extracellular matrix linkage underlying the pathology of other inherited skin fragility disorders such as epidermolysis bullosa . This article reviews the clinical features as well as the molecular and cellular pathology of Kindler syndrome and highlights the importance of the new protein , kindlin-1 , in cell-matrix adhesion and its intriguing link to photosensitivity .