Natural healing proven in congenital skin disorder

For the first time, scientists working in the group of Prof. Dr Leena Bruckner-Tuderman, Director of the School of Life Sciences – LifeNet, have been able to show how the blotchy skin patterns characteristic of Kindler Syndrome arise as a result of ‘natural healing’, which corrects a defect in the Kindlin-1 gene. Although the phenomenon of natural healing has also been described in several other rare diseases, a unique pattern is found in Kindler Syndrome patients where thousands of islands of healthy skin directly adjoin diseased areas. The findings have now been published in the prestigious Journal of Clinical Investigation.

Kindler Syndrome is caused by mutations in the gene that encodes Kindlin-1, which is a component of the epidermis. It takes its name from Theresa Kindler, who was the first person to describe it (1954, London). Patients with the syndrome have extremely sensitive, fragile skin from birth. Over time, the skin gains uneven, blotchy pigmenting, becomes dry and thin, and ages prematurely. Sufferers also have a markedly increased risk of developing skin cancer. The Centre of Excellence for Fragile Skin and the Epidermolysis Bullosa Centre at the Freiburg University Hospital Dermatology Clinic examine and treat the world’s largest group of patients with Kindler Syndrome.

“We have uncovered the molecular mechanisms in this ‘natural healing’ process and were able to prove that the expression of the Kindlin-1 protein, which is restored as a result of repairing the mutation, normalises both the structure of the skin and important physiological functions of the skin cells,” explains Prof. Leena Bruckner-Tuderman. These new findings are highly relevant to the treatment of patients with both Kindler Syndrome and other congenital skin disorders. They open up new avenues for cell therapy – treatment approaches using patients’ own skin cells that have spontaneously healed. “It is entirely conceivable that, in future, larger autografts might be cultured from such cells and transplanted onto the diseased skin areas,” says the Director of the School of Life Sciences – LifeNet. This would have the advantage that no genetic engineering would be required. The grafts would therefore give rise to none of the complications or adverse effects that occur with many of the other methods currently used to treat hereditary diseases.

J Clin Invest doi:10.1172/JCI61976.

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