Osebold Skeletal Dysplasia/osteolysis Syndrome

Osebold et al. (1998) described the findings and clinical course in a Caucasian woman, aged 23.5 years at the time of report, who had been followed since early childhood for a previously undescribed syndrome of painful osteocartilaginous metaplasia of long bone metaphyses and painful distal phalangeal osteolysis and soft tissue swelling. From birth the patient held her limbs in an unusual position and diapering was painful. When attempting to sit, she could not support her torso, and when she began walking, she could not support her weight. She was always small for age; at 21 years of age, her height was 156 cm. Menarche and pubertal development were normal. Iliac epiphyses were not fully ossified until age 17.5 years. Maximum growth rate occurred between ages 16 and 18 years, marked by severe bone pain, especially about the hips, lower back, lower limbs, and elbows. She also had headache. Analgesics, antiinflammatory agents, muscle relaxants, and antiosteoporosis medications were all ineffective. The patient was highly intelligent; neurologic status was normal. Slight distal phalangeal osteolysis was first noted at age 10 years. By age 20 years, right hip pain became progressively severe, with nearly complete femoral head lysis. At age 13 years, the patient drew attention to her recently painful left distal fibula, where radiographs demonstrated another metaplastic osteocartilaginous lesion similar to that in the left proximal femur.

Osebold et al. (1998) concluded that the disorder in this patient represented the combination of 2 processes: skeletal dysplasia responsible for shortness of stature, progressive overtubulation of long bones, and increase in vertebral body height; and osteolysis with a remarkably bland and nonspecific histologic picture, and initial radiologic presentation similar to that of hyperparathyroidism (however, with normal parathyroid serum and urine laboratory studies) progressing to involve the distal phalanges of all 20 digits, both proximal femurs, and, in a spotty, selective manner, the clavicles, scapulas, and 1 fibula.