Learn About Kindler Syndrome

What is the definition of Kindler Syndrome?

Kindler epidermolysis bullosa (or Kindler EB) 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.

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What are the causes of Kindler Syndrome?

Kindler EB results from variants (also known as 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.

How prevalent is Kindler Syndrome?

Kindler EB appears to be rare. About 250 cases have been reported worldwide.

Is Kindler Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have variants. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.

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Who are the sources who wrote this article ?

Published Date: March 17, 2023Published By: National Institutes of Health

What are the Latest Advances for Kindler Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.