Kindler

Kindler syndrome is a rare genetic disorder characterized by skin fragility, photosensitivity, and a progressive poikiloderma. The condition is named after Theresa Kindler who first described it in 1954. It is considered a type of Epidermolysis bullosa, a group of genetic conditions that cause the skin to be very fragile and to blister easily.

Signs and symptoms[edit | edit source]

Kindler syndrome is characterized by skin abnormalities that begin in infancy and can vary widely in severity. In some cases, the hands and feet can develop blistering and skin erosion. These skin problems can lead to fusion of the skin between the fingers and toes, and abnormal nail growth. People with Kindler syndrome also have an increased sensitivity to sunlight (photosensitivity), which can cause additional skin damage.

Causes[edit | edit source]

Kindler syndrome is caused by mutations in the FERMT1 gene. This gene provides instructions for making a protein that is involved in the attachment of cells to one another and to the underlying tissue. Mutations in the FERMT1 gene disrupt the function of this protein, leading to the skin abnormalities seen in Kindler syndrome.

Diagnosis[edit | edit source]

Diagnosis of Kindler syndrome can be challenging due to its rarity and the variability of its symptoms. It is typically diagnosed based on the presence of characteristic clinical features and confirmed by genetic testing.

Treatment[edit | edit source]

There is currently no cure for Kindler syndrome. Treatment is focused on managing the symptoms and includes wound care, pain management, and protection from sun exposure.

References[edit | edit source]

Kindler Resources
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