Kindler syndrome is a rare type of epidermolysis bullosa, which is a group of genetic conditions that cause the skin to be very fragile and to blister easily.
Kindler syndrome results from mutations in the FERMT1 gene. This gene provides instructions for making a protein known as kindlin-1. This protein is found in epithelial cells, which are the cells that line the surfaces and cavities of the body. In the skin, kindlin-1 plays a critical role in specialized cells called keratinocytes, which are the major component of the epidermis. Kindlin-1 is involved in several important cell functions, including cell growth and division (proliferation), the attachment of cells to the underlying network of proteins and other molecules (cell-matrix adhesion), and the movement (migration) of cells.
Kindler syndrome appears to be rare. About 250 cases have been reported worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Cristina Has is in Freiburg, Germany. Has is rated as an Elite expert by MediFind in the treatment of Kindler Syndrome. She is also highly rated in 36 other conditions, according to our data. Her top areas of expertise are PARC Syndrome, Epidermolysis Bullosa, Bullae, and Kindler Syndrome.
Joey Cheong-Lai is in Camberley, United Kingdom. Cheong-Lai is rated as an Elite expert by MediFind in the treatment of Kindler Syndrome. They are also highly rated in 13 other conditions, according to our data. Their top areas of expertise are Kindler Syndrome, PARC Syndrome, Bullae, and Epidermolysis Bullosa.
Leena Tuderman-Bruckner is in Freiburg, Germany. Tuderman-Bruckner is rated as an Elite expert by MediFind in the treatment of Kindler Syndrome. She is also highly rated in 24 other conditions, according to our data. Her top areas of expertise are Epidermolysis Bullosa, Kindler Syndrome, Bullae, and Dystrophic Epidermolysis Bullosa.
Published Date: June 01, 2016Published By: National Institutes of Health
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