Causes of Kindler Syndrome
FERMT1 is the gene that is defective in Kindler syndrome. The gene provides the information necessary to produce a protein called kindlin-1, which is a member of the fermitin family of proteins.
These proteins play a key role in the cell-to-cell and cell-to-extracellular matrix interaction. (The extracellular matrix is a complex network that provides structural and biochemical to cells.)
Specifically, the kindlin-1 protein is of importance to specialized cells called keratinocytes, the major component of the skin’s upper layer, or epidermis. Mutations in FERMT1 impair the attachment of the epidermis to the underlying dermis, which makes the skin fragile and prone to blisters.
The rarity of Kindler syndrome is partially due to it being inherited in an autosomal recessive pattern, meaning that an individual must have two defective copies of FERMT1 to develop the disease. That means both parents of a child with this syndrome must pass down a defective copy of the gene.
A child born to two carrier parents, who typically do not have symptoms and may not know they are carriers, has a 25% chance of developing Kindler syndrome and a 50% chance of being a carrier.
Kindler syndrome is characterized by blisters starting in early infancy, which form most often on the back of the hands and top of the feet, as well as fragile papery skin.
The moist lining of the eyes, intestines, esophagus, mouth, urinary tract, and genitals may be affected.
People with Kindler syndrome have a heightened sensitivity to light, and extra care must be taken with sunlight.
Other symptoms can include unusual patchy discolorations on the skin and thickened skin on the palms and feet. These symptoms appear in infancy and continue into adulthood.
Later in life, Kindler syndrome can be associated with gingivitis (inflammation of the gums), periodontitis (gum disease), narrowing of the esophagus, eye damage, a higher risk of skin cancer, and intestinal bleeding. However, of life expectancy is normal in most cases of Kindler syndrome.
Diagnosis of Kindler syndrome usually starts with the examination of the symptoms and the appearance of the skin. The level in which blisters develop is determined by taking a small sample of skin to be examined, a technique called skin biopsy.
The diagnosis may be confirmed by genetic testing, mainly during the child’s early years, to look for mutations in the FERMT1 gene using a small sample of blood.
People with a family history of Kindler syndrome or other forms of EB should consider genetic testing to determine if they are carriers and capable of transmitting a disease-causing mutation to a child.
Treatment of Kindler syndrome generally consists of avoiding damage to the skin, using moisturizers to help maintain skin health, and preventing blisters from getting infected by using special dressings. Blisters should be burst with a sterile needle and drained.
Because children with Kindler syndrome are very sensitive to UV light, a high SPF sunscreen should be used at all times. Regular visits to the dentist and appropriate dental hygiene are key to maintain oral health. Close follow-up to monitor the possible development of skin cancer is advised in adulthood.
Blisters in the mouth and esophagus may make eating and drinking uncomfortable, so taking steps to ensure good nourishment and hydration also are important.
Last updated: July 15, 2021
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