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Diagnosis Please |
1 From the Department of Radiology, Medical College of Virginia of Virginia Commonwealth University, 401 N 12th St, Richmond, VA 23298-0615. Received May 7, 1998; revision requested June 17; revision received July 28; accepted December 16. Address reprint requests to A.R.A.B. (e-mail: avirb@yahoo.com).
Index terms: Bones, sclerosis, 45.155, 45.599 • Diagnosis please • Tibia, 45.599
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Radiographs of both lower legs were obtained 1 year apart. Findings on a radionuclide bone scan, not shown here, were positive only in the areas of abnormality seen on the radiographs.
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Metabolic and endocrine disorders that require consideration include renal osteodystrophy, hypervitaminosis A, pseudohypoparathyroidism, and pseudopseudohypoparathyroidism. Renal osteodystrophy usually causes diffuse sclerosis along with the usual gamut of other bone and soft-tissue changes. Normal laboratory and clinical features virtually exclude this disease. Hypervitaminosis A is characterized by periosteal new bone deposition in contrast to the mainly endosteal deposition seen in this patient. Other characteristic features of hypervitaminosis A include soft-tissue nodules and swollen tender limbs, not present in this patient. Pseudohypoparathyroidism and pseudopseudohypoparathyroidism manifest in childhood and are associated with characteristic shortening of the metacarpals, as well as areas of soft-tissue calcification and a more diffuse sclerosis. Pseudohypoparathyroidism is associated with hypocalcemia, whereas the serum calcium is normal in psuedopsuedohypoparathyroidism.
Congenital or developmental diseases to consider include Chester-Erdheim disease, a lipogranulomatous disorder characterized by reactive diffuse, symmetric new bone formation. Unlike in this patient, this disease affects the metaphysis and the diaphysis. Familial hyperphosphatasemia is characterized by diffuse sclerosis of the cortical surfaces of long bones with wide, coarse medullary cavities. Bowing deformities and fractures are common. The appearance may mimic Paget disease in a young patient and is characterized by sustained elevation of serum alkaline phosphatase.
The sclerosing bone dysplasias are a poorly understood group of developmental anomalies, much of the cause of which is still obscure. The conditions constituting this group are enostosis (bone island), osteopoikilosis, osteopathia striata (Voorhoeve disease), osteopetrosis (Albers-Schönberg disease), pyknodysostosis (Maroteaux-Lamy disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), hereditary multiple diaphyseal dysplasia (Ribbing disease), intramedullary osteosclerosis, hyperostosis corticalis generalisata (van Buchem syndrome), metaphyseal dysplasia (Pyle disease), craniometaphyseal dysplasia, melorheostosis (Leri-Weill disease), craniodiaphyseal dysplasia, and sclerosteosis.
Of this list, enostosis, osteopoikilosis, and osteopathia striata can be excluded easily on the basis of radiographic appearance. Osteopetrosis is invariably more diffuse with common involvement of the axial skeleton and the tendency for Erlenmeyer flask deformities and a bone-in-bone appearance. Pyknodysostosis manifests in childhood with dwarfism and generalized osteosclerosis, wormian bones, small facial bones, and obtuse mandibular angle. Van Buchem syndrome, a rare autosomal recessive abnormality, has been described in both adults and children and simulates acromegaly. It is characterized by diffuse medullary and cortical sclerosis with sparing of the spine. In addition, there is an elevation of alkaline phosphatase levels. In melorheostosis, dense new bone is deposited on long bones, with a tendency for sclerotome distribution, and is almost always monomelic.
Pyle disease and craniometaphyseal dysplasia may simulate osteopetrosis at birth, but in the adult there is a tendency for constriction of the diaphysis and flaring (Erlenmeyer flask deformity) of the metaphysis. The spine may demonstrate platyspondylia with central vertebral body sclerosis and varying amounts of face and skull sclerosis and vault thickening. In craniodiaphyseal dysplasia, there is marked sclerosis of the skull and facial bones with diaphyseal expansion of tubular bones, ribs, and the clavicle. The patients are mentally retarded, and inheritance is autosomal recessive. Osteosclerosis is an autosomal dominant condition with bone changes similar to those seen with van Buchem syndrome but with normal alkaline phosphatase levels. In sclerosteosis, there is general bone overgrowth of the skull, mandible, pelvis, and spine in addition to the long and short bones.
In this patient, the three main differential considerations would be hereditary multiple diaphyseal dysplasia (Ribbing disease), progressive diaphyseal dysplasia (Camurati-Engelmann disease), and intramedullary osteosclerosis. Both dysplasias are characterized by endosteal and periosteal new bone formation along the diaphysis of long bones, most commonly involving the lower extremities. The conditions can be distinguished on clinical grounds.
Camurati-Engelmann disease (2–4), an autosomal dominant disorder, manifests during childhood; is bilateral and symmetric; and is characterized by pain, progressive muscle weakness, and a waddling gait. Also, because the disease affects bones formed by intramembranous ossification, the skull is often affected in the later stages. The disease begins in the diaphysis of long bones but may eventually spread to the metaphysis. Bone biopsy results demonstrate trabecular thickening and both osteoblasts and osteoclasts. In view of the limited sites of involvement, normal gait, and older age of appearance, this would be unlikely.
Ribbing disease (5–7) manifests in middle age as a unilateral or bilateral and asymmetric asymptomatic to moderately painful condition, usually of the lower extremity. Pain when present is usually unresponsive to nonsteroidal antiinflammatory drugs. The inheritance is probably autosomal recessive, and other family members are usually affected. Laboratory test results, including erythrocyte sedimentation rate, complete blood cell count, and serum alkaline phosphatase level, are within normal limits. Histopathologic findings of bone biopsy are nonspecific and demonstrate only osteoblastic activity and progressive obstruction of the haversian canals.
In 1988, a condition termed "intramedullary osteosclerosis" was described (8). This condition is characterized by mild to moderate pain in the legs, which increases with physical activity. As with Ribbing disease and Camurati-Englemann disease, laboratory values are within normal limits. The radiographic appearance is almost identical to that of Ribbing disease, with intramedullary sclerosis within the middle or distal portions of the tibia and the fibula (9). This condition may be unilateral or bilateral and can manifest at any age. There is, however, no substantial periosteal reaction, and most useful in the differentiation from Ribbing disease is a lack of family history, because this is a nonhereditary idiopathic condition.
On the basis of the radiographic appearance alone, hereditary multiple diaphyseal dysplasia and intramedullary osteosclerosis may be identical. However, the lack of a family history to support the hereditary nature of the disease makes the former condition less likely, and intramedullary osteosclerosis is thus the most likely diagnosis.
Our congratulations to the four individuals who submitted the most likely diagnosis (intramedullary osteosclerosis) for Diagnosis Please, Case 14. The names and locations of the individuals, as submitted, are as follows:
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This article has been cited by other articles:
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  K. Chanchairujira, C. B. Chung, Y. M. Lai, P. Haghighi, and D. Resnick Intramedullary Osteosclerosis: Imaging Features in Nine Patients Radiology, July 1, 2001; 220(1): 225 - 230. [Abstract] [Full Text] [PDF]
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