Polyosteolysis-Hyperostosis Syndrome

Kantaputra et al. (2006) described a 'new' bone disorder consisting of polyostotic expansile osteolysis affecting long bones and iliac bones and hyperostosis of the skull, thoracic cage, and medial portion of both clavicles. Other features included pectus carinatum, clubbing of the fingers and toes, gigantiform synovial masses of the elbows and knees, atrial septal defect and cardiomegaly, unilateral cryptorchidism, and mental deficiency. They named the condition polyosteolysis-hyperostosis syndrome. The patient shared some features in common with juvenile Paget disease (239000), but direct sequencing of the TNFRSF11B gene (602643) failed to identify a mutation. The condition was thought to be autosomal recessive, because the parents were first cousins.