Kindler syndrome

autorecessive

Kindler syndrome is a rare genetic disorder that affects the skin and mucous membranes. It is characterized by a combination of skin blistering, photosensitivity, and progressive poikiloderma. The syndrome is named after Theresa Kindler, who first described the condition in 1954.

Signs and Symptoms

Individuals with Kindler syndrome typically present with the following symptoms:

• Skin blistering: Blisters form on the skin, especially in response to minor trauma or friction.
• Photosensitivity: Increased sensitivity to sunlight, leading to sunburns and skin damage.
• Poikiloderma: A condition marked by skin changes including pigmentation, atrophy, and telangiectasia.
• Mucosal involvement: Blistering and erosions can also affect the mucous membranes, including the mouth, eyes, and genitals.
• Periodontitis: Severe gum disease is common in individuals with Kindler syndrome.

Genetics

Kindler syndrome is inherited in an autosomal recessive manner. It is caused by mutations in the FERMT1 gene, which encodes the protein kindlin-1. This protein is essential for the proper functioning of the skin and mucous membranes.

Diagnosis

Diagnosis of Kindler syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the FERMT1 gene. Skin biopsy and immunofluorescence studies can also aid in diagnosis by revealing characteristic changes in the skin.

Treatment

There is no cure for Kindler syndrome, and treatment is primarily supportive. Management strategies include:

• Avoiding trauma and friction to the skin
• Using sunscreen and protective clothing to prevent sun damage
• Regular dental care to manage periodontitis
• Monitoring and treating infections promptly

Prognosis

The prognosis for individuals with Kindler syndrome varies. While the condition is chronic and can lead to significant morbidity, life expectancy is generally not reduced. Early diagnosis and appropriate management can improve the quality of life for affected individuals.

Related Pages

• Epidermolysis bullosa
• Photosensitivity
• Poikiloderma
• Autosomal recessive inheritance
• Genetic disorders

See Also

• List of cutaneous conditions
• List of genetic disorders

External Links

-