Osteopoikilosis

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Osteopoikilosis
X-ray of hands showing osteopoikilosis
Synonyms Spotted bone disease
Pronounce
Specialty Rheumatology, Orthopedics
Symptoms Usually asymptomatic, may have joint pain
Complications Rarely associated with melanoma, scleroderma, keloids
Onset Usually detected in adulthood
Duration Lifelong
Types
Causes Genetic disorder
Risks
Diagnosis X-ray, MRI
Differential diagnosis Osteopathia striata, Melorheostosis
Prevention None
Treatment Usually not required
Medication
Prognosis Excellent
Frequency Rare
Deaths


CT scan of hip showing osteopoikilosis
Diagram illustrating osteopoikilosis
Normal bone scan for comparison

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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

See Also[edit | edit source]

References[edit | edit source]

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Contributors: Prab R. Tumpati, MD