Kindler’s syndrome is a very rare form of epidermolysis bullosa (EB), a group of genetic diseases marked by blistering skin in infants and children. An estimated 250 cases of Kindler’s syndrome have been reported worldwide.
FERMT1 is the gene that is defective in Kindler’s 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 an important role in attaching cells to the extracellular matrix that holds, organizes, and connects cells in the body. The defect seen in Kindler’s syndrome leads to these connections being weakened, causing the skin to be fragile and to blister and tear easily.
Specifically, the kindlin-1 protein is of importance to specialized cells called keratinocytes, the major component of the skin’s upper layer, or epidermis. As a result the epidermis is less like to attach to the underlying layer, the dermis.
The rarity of Kindler syndrome is partially due to it being inherited in an autosomal recessive pattern, meaning that only an individual with two defective copies of FERMT1 will develop the disease. In other words, both parents of a child with this syndrome must either be affected by the disease themselves or be carriers of a single defective copy of the gene.
A child born to two carrier parents, neither of whom have disease symptoms and may not know they are carriers, has a 25 percent chance of developing Kindler syndrome in early infancy and a 50 percent chance of being a carrier.
Kindler syndrome is characterized by blisters that form most often on the back of the hands and tops of the feet, and 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. Bright, intense lights can damage their skin, and extra care must be taken with sunlight throughout the year, as their skin can burn easily.
Other symptoms can include unusual patchy discolorations on the skin, thickened skin on the palms and feet, and atrophied or thin, dry, and wrinkled skin. These symptoms appear in infancy and continue into adulthood.
Later in life, Kindler syndrome is associated with a risk of gingivitis (inflammation of the gums), which may lead to periodontitis or gum disease, and to problems with the esophagus and eyes, a higher risk of skin cancer, and intestinal bleeding. However, Kindler’s syndrome is not life-threatening and with good medical care, people with the disease have normal lifespans.
Treatment of Kindler’s syndrome generally consists of avoiding damage to the skin, using moisturizers to help maintain skin health, and preventing blisters from getting infected. Because children with Kindler syndrome are very sensitive to UV rays of the sun, a high SPF sunblock should be used at all times.
Blisters in the mouth and esophagus may make eating and drinking uncomfortable, so taking steps to ensure good nourishment and hydration are also key.
People with a family history of Kindler syndrome or other forms of epidermolysis bullosa should consider genetic testing to determine if they are carriers and could transmit the disease to a child.
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