Osteopoikilosis (OPK) is a rare, benign sclerosing bone dysplasia. It is often identified as an incidental finding on X-rays done for another reason.
Synonym: osteopathiacondensansdisseminata
Chromosome: 12q14.3
Gene: LEMD3 (LEM domain containing 3)
Inheritance: autosomal dominant, may be sporadic
Clinical features:
(1) often asymptomatic but may have bone and/or joint pain
(2) sclerosing bone dysplasia with disseminated, symmetrical hyperostotic areas, particularly in epiphyseal and metaphyseal regions of long bones
(3) variable findings: skin lesions, organ anomalies, endocrine dysfunction
Differential diagnosis:
(1) osteoblastic metastases to bone
