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Isolated osteopoikilosis

ORPHA:166119· ICD-10 Q78.8

Definition

A rare primary bone dysplasia characterized by multiple, small, round to ovoid osteosclerotic foci with a predilection for the epiphyses and metaphyses of long tubular bones as well as the pelvis, scapula, carpal, and tarsal bones. The condition is usually clinically silent and discovered only incidentally, although some patients may experience mild articular pain with or without joint effusion. Bone strength is normal.

Prevalence
1-9 / 100 000
Inheritance
Autosomal dominant
Age of onset
Adolescent, Adult, Childhood