Osteopoikilosis

Osteopoikilosis is a rare, benign, asymptomatic skeletal disorder that is typically characterized by the presence of multiple small, round or ovoid radiodensities scattered throughout the skeleton. These radiodensities are typically located in the metaphyses and epiphyses of long bones, pelvis, and carpal and tarsal bones. The condition is usually diagnosed incidentally during radiographic examination for other conditions.

Etiology

The exact cause of osteopoikilosis is not known. However, it is believed to be an autosomal dominant inherited disorder. The condition is associated with mutations in the LOXHD1 gene.

Clinical Presentation

Most individuals with osteopoikilosis do not have any symptoms. When symptoms do occur, they may include joint pain, joint swelling, and limited range of motion. Some individuals may also have skin lesions.

Diagnosis

Osteopoikilosis is typically diagnosed based on characteristic findings on radiographic imaging studies. These studies reveal multiple small, round or ovoid radiodensities scattered throughout the skeleton.

Treatment

There is no specific treatment for osteopoikilosis. Management of the condition is focused on addressing any symptoms that may occur. This may include pain management and physical therapy.

Prognosis

The prognosis for individuals with osteopoikilosis is generally good. The condition does not typically affect life expectancy.

See Also

• Bone disease
• Genetic disorder
• Radiology

References

Osteopoikilosis Resources
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