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 symptoms of Buschke–Ollendorff syndrome include skin lesions and bone lesions. The skin lesions are typically small, firm, yellowish or skin-colored bumps (nodules) that are scattered across the body. The bone lesions are areas of increased bone density that are usually found in the long bones, pelvis, and skull. These bone lesions are typically asymptomatic and are 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 and bone lesions. Genetic testing can confirm the diagnosis by identifying a mutation in the LEMD3 gene.

Treatment

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

Related Terms

External links

Medical encyclopedia article on Buschke–Ollendorff syndrome
Wikipedia's article - Buschke–Ollendorff syndrome

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