Osteopoikilosis

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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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

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

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