Buschke Ollendorff syndrome

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Buschke Ollendorff Syndrome

Buschke Ollendorff Syndrome (pronounced: boosh-ka ollen-dorf sin-drome) is a rare genetic disorder characterized by the presence of multiple, noncancerous skin growths (dermatofibrosis lenticularis disseminata) and areas of increased bone density (osteopoikilosis).

Etymology

The syndrome is named after the German dermatologist Abraham Buschke and the German radiologist Helmut Ollendorff, who first described the condition in the 1920s.

Symptoms

The most common symptom of Buschke Ollendorff Syndrome is the presence of skin lesions that are typically painless and do not cause any discomfort. These lesions are often yellowish or skin-colored and can appear anywhere on the body.

In addition to skin lesions, individuals with Buschke Ollendorff Syndrome often have increased bone density, particularly in the long bones, pelvis, and hands. This increased bone density is typically asymptomatic and is often discovered incidentally during radiographic imaging for other conditions.

Causes

Buschke Ollendorff Syndrome is caused by mutations in the LEMD3 gene. This gene provides instructions for making a protein that is involved in bone development and maintenance. Mutations in the LEMD3 gene disrupt the normal development and maintenance of bone and skin, leading to the characteristic features of Buschke Ollendorff Syndrome.

Diagnosis

The diagnosis of Buschke Ollendorff Syndrome is typically based on the presence of characteristic skin lesions and increased bone density. Genetic testing can confirm the diagnosis.

Treatment

There is currently no cure for Buschke Ollendorff Syndrome. Treatment is typically focused on managing the symptoms and may include surgical removal of skin lesions if they cause discomfort or cosmetic concerns.

Related Terms

External links

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