Kindler syndrome

Kindler syndrome is a rare geno-photodermatosis and is inherited as an autosomal recessive trait. It is characterized by the formation of blisters on the buttocks and photosensitivity starting from infancy. These improve during childhood, however, patients later develop progressive poikiloderma and skin atrophy.

Additional symptoms have been reported, but the syndrome is clinically heterogeneous, promising a highly variable expressivity. Other symptoms include dry skin, hair loss, and involvement of the mucous membranes.

Patients have an unrestricted life expectancy as the symptoms decline in old age but the risk of developing squamous cell carcinoma is increased.

Dystrophic epidermolysis bullosa and hereditary acrokeratotic poikiloderma of the type Weary are clinically-pathologically similar, but immunohistological, molecular and ultrastructural findings reveal their own specific entity of the syndrome.

A loss of function mutation of the KIND1 gene encoding Kindlin-1 is the cause of the disease. The previously unknown protein Kindlin-1 connects with bounded contacts the actin cytoskeleton with the extracellular matrix.