Unclassified sclerosing bone dysplasia with osteopathia striata, cranial sclerosis, metaphyseal undermodeling, and bone fragility

Abstract

Sclerosing bone dysplasias are diagnosed on the basis of a characteristic pattern of osteosclerosis and clinical manifestations; in many of them, cause and pathogenesis are still unknown. A 33-year-old man had five fractures of the humerus, tibiae, and femur as a result of mild traumatic incidents that occurred between the ages of 18 and 33 years as well as a remnant of rib fractures without apparent trauma on radiographs. His height was 158 cm (-2.2 SD). Radiographic evaluation showed cranial sclerosis, longitudinal striations in the metaphyses of the femur and tibia, fan-like striation in the ilium, metaphyseal widening in the femur and tibia, and sclerosis of the ribs. The blood chemistry findings, including serum calcium, phosphorus, and alkaline phosphatase, were normal. Biopsy from the ilium showed thick trabeculae composed of woven bone. The coexistence of osteopathia striata, cranial sclerosis, metaphyseal undermodeling, and bone fragility has not been recognized previously. Our case appears to represent a new form of sclerosing bone dysplasia.