How is Kindler syndrome diagnosed?
The diagnosis of Kindler syndrome is established in a proband with characteristic clinical findings and identification of either biallelic FERMT1 pathogenic variants on molecular genetic testing or suggestive histologic findings and/or immunolabeling on skin biopsy.
What causes Kindler syndrome?
Kindler syndrome is caused by mutations in the FERMT1 gene (also called the KIND1 gene) and is inherited in an autosomal recessive manner. Treatment consists of avoiding skin injury, limiting sun exposure, and carefully tending to blisters (often with antibiotics ).
Is epidermolysis bullosa an autoimmune disease?
Another rare type of EB is called epidermolysis bullosa acquisita. This form develops after birth. It is an autoimmune disorder, which means the body attacks itself.
How many types of epidermolysis bullosa are there?
EB has four major types based on the site of blister formations within the skin layers: epidermolysis bullosa simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler syndrome.
Does epidermolysis bullosa go away?
The condition usually shows up in infancy or early childhood. Some people don’t develop signs and symptoms until adolescence or early adulthood. Epidermolysis bullosa has no cure, though mild forms may improve with age. Treatment focuses on caring for blisters and preventing new ones.
What is the life expectancy of a person with epidermolysis bullosa?
Life expectancy is 50 years, and the disease brings with it complications related to infections, nutrition and neoplastic complications. There is currently no effective treatment available.
Where is epidermolysis bullosa most common?
Epidermolysis bullosa simplex. This is the most common form. It develops in the outer layer of skin and mainly affects the palms and the feet. The blisters usually heal without scarring.
Can you get EB later in life?
But EBA isn’t inherited, and symptoms don’t usually appear until later life. It’s an autoimmune disease, which means your immune system starts to attack healthy body tissue. It’s not known exactly what causes this. EBA is a very rare condition that tends to affect people over the age of 40.
Can you grow out of EB?
No matter which type a child has, symptoms are often noticeable early in life. Because EB is an inherited disease without a cure, it is currently considered a lifelong condition.
Is EB painful?
Summary: For patients suffering from epidermolysis bullosa (EB), a hereditary skin disease, even a gentle touch is extremely painful. Now researchers have discovered the causes underlying this disease.
Does EB get worse with age?
The outlook for children with epidermolysis bullosa (EB) depends very much on the disease type they inherited. Some forms are mild and even improve with age, while others are so severe that a child is unlikely to live into adulthood. Fortunately, the milder forms are most common.
What is the genetic cause of Kindler syndrome?
Genetics. Kindler syndrome is an autosomal recessive genodermatosis. The KIND1 gene mutated in Kindler syndrome codes for the protein kindlin-1, which is thought to be active in the interactions between actin and the extracellular matrix (focal adhesion plaques). Kindler syndrome was first described in 1954 by Theresa Kindler.
How is Kindler syndrome (KIND1) treated?
Kindler syndrome is caused by mutations in the FERMT1 gene (also called the KIND1 gene) and is inherited in an autosomal recessive manner. Treatment consists of avoiding skin injury, limiting sun exposure, and carefully tending to blisters (often with antibiotics ).  
What is the KIND1 gene?
The KIND1 gene mutated in Kindler syndrome codes for the protein kindlin-1, which is thought to be active in the interactions between actin and the extracellular matrix (focal adhesion plaques). Kindler syndrome was first described in 1954 by Theresa Kindler.
What are the skin abnormalities associated with Kindler syndrome?
Other skin abnormalities that occur with Kindler syndrome include patchy changes in skin coloring and small clusters of blood vessels just under the skin (telangiectases), a combination known as poikiloderma. In some affected individuals, the skin on the palms of the hands and soles of the feet thickens and hardens ( hyperkeratosis ).