Kindler syndrome
Kindler Syndrome
Kindler Syndrome (pronounced: KIN-dler SIN-drome) is a rare genetic disorder characterized by skin fragility and photosensitivity. The syndrome is named after Theresa Kindler, who first described it in 1954.
Etymology
The term "Kindler Syndrome" is derived from the name of Theresa Kindler, a Swiss pediatrician who first described the condition. The word "syndrome" comes from the Greek "σύνδρομον" (sýndromon), meaning "concurrence of symptoms," or "running together."
Definition
Kindler Syndrome is a type of Epidermolysis Bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily. It is specifically classified as a subtype of Epidermolysis Bullosa, known as Epidermolysis Bullosa Simplex.
Symptoms
The symptoms of Kindler Syndrome can vary greatly among individuals. They may include skin fragility, skin blistering, photosensitivity (sensitivity to sunlight), and progressive poikiloderma (changes in skin coloration). Other symptoms may include mucosal involvement, leading to complications such as esophageal strictures and periodontal disease.
Causes
Kindler Syndrome is caused by mutations in the FERMT1 gene. This gene provides instructions for making a protein called kindlin-1, which plays a crucial role in attaching the outer layer of the skin (the epidermis) to underlying tissues.
Treatment
There is currently no cure for Kindler Syndrome. Treatment is symptomatic and supportive, focusing on managing the skin symptoms and preventing blistering and other skin damage.
See Also
References
External Links
External links
- Medical encyclopedia article on Kindler syndrome
- Wikipedia's article - Kindler syndrome
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