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1/6. Ribbing disease: radiographic and biochemical characterization, lack of response to pamidronate.

    Ribbing disease is a rare form of sclerosing dysplasia characterized by benign endosteal and periosteal bone growth confined to the diaphyses of the long bones, usually the tibiae and femora. The onset is usually after puberty and the most common presentation is pain that is usually self-limited, but may progress. The etiology and optimal treatment for the disease are unknown. We present the case of a 39-year-old Hispanic man with clinical and radiological manifestations of Ribbing disease. Radiographs and CT imaging demonstrated typical cortical thickening in the mid-diaphyses of the tibiae bilaterally that correlated with intense tracer uptake on (99m)Tc-MDP bone scans. MRI demonstrated cortical thickening and abnormal marrow signal consistent with marrow edema. bone marrow edema may explain the pain frequently associated with the disease. Multiple serum and urine markers of bone metabolism were within normal limits. In an effort to ameliorate pain, the patient was treated with the bisphosphonate, pamidronate. In spite of treatment, pain increased, requiring additional and larger doses of analgesics. Serial radiographs, CT, bone scans, and MRI all demonstrated disease progression with pamidronate treatment. In this report we present for the first time the finding of bone marrow edema with MRI as well as disease progression during intravenous pamidronate treatment.
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2/6. Camurati-Engelmann disease (progressive diaphyseal dysplasia) in a Moroccan family.

    We report on a 46-year-old mother of Moroccan origin, suffering mainly from painful, swollen legs, and her 26-year-old son who had experienced intense pain in his legs, without fever, for approximately 3 years. They did not have dysmorphic features or abnormal gaits. Radiographic studies of the mother revealed diaphyseal sclerosis of the tibia and spondylosis of the thoracal and lumbar vertebrae. The son had sclerosis of the diaphyses of the metacarpalia of the left hand, the femur and the fibula. The other parts of the skeleton were normal. Several osteosclerotic/hyperostotic disorders, such as melorheostosis (present mostly in sporadic cases and affecting lower extremities) and van Buchem's disease (autosomal recessive and commonly affecting the mandible) were considered as a diagnosis in the proposita. However, similar symptoms in the son of the proposita suggested an autosomal dominant inheritance pattern. This brought us to the diagnosis of progressive diaphyseal dysplasia (PDD) or Camurati-Engelmann disease (CED), an autosomal dominant disorder characterized by limb pain, reduced muscle mass, weakness, a waddling gait, progressive periosteal and endosteal sclerosis of the diaphyses of the long bones and sclerosis of the skull base. Mutations in the transforming growth factor (TGF)-beta1 gene on chromosome 19q13.1 have been reported to cause this disorder. The diagnosis of PDD/CED in this family was confirmed at the molecular level by detection of a C-to-T transition at position 466, leading to an arginine-to-cysteine amino acid change (position 156) in exon 2 of the transforming growth factor-beta1 (TGFB1) gene.
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3/6. Camurati-Engelmann's disease. A case report.

    Camurati-Engelmann's syndrome is a rare congenital disease characterised by hyperostosis and sclerosis with a predilection for the long bones of the lower limbs. The authors report a case in an adult with a family history of the disease, and multiple localisations in the diaphyses of the long bones. The site of pain and greatest involvement of the disease was the right tibia and fibula. The affection was treated by drilling and reaming the medullary canal with drills of increasing diameter. This method is easy to carry out, causes little trauma, and has undoubted advantages in greatly reducing the period of bedrest and aiding functional recovery.
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4/6. Engelmann's disease and the effect of corticosteroids. A case report.

    A 13-year-old girl presented with a two-year history of pain in the right thigh and right forearm. Engelmann's disease was diagnosed on the basis of radiological appearances and histological examination of the bone. Her symptoms subsided after biopsy of the bone, but two weeks later she developed severe pain in the left tibia and was unable to walk. Radiological features of Engelmann's disease were found in the left tibia and other long bones although these bones had been radiologically normal one month previously. Treatment with prednisolone gave rapid relief of pain and allowed the patient to become mobile again. Four months later the radiological appearances showed significant improvement. The use of corticosteroids in this disorder is discussed.
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5/6. Progressive diaphyseal dysplasia (Camurati-Engelmann's disease). Improvement of clinical signs and of bone scintigraphy during pregnancy.

    The case of a woman suffering from progressive diaphyseal dysplasia is presented. Characteristic symptoms of crippling pain in both legs, severe aching in both forearms, and episodic temporofrontal and occipital headache were only partially regulated by corticosteroid treatment. However, pregnancy resulted in a progressive disappearance of these symptoms, allowing withdrawal of steroid treatment. Tc-99m MDP scintigraphy performed immediately after delivery showed a decrease of the intense uptake in the forearms, tibiae, and skull, which had been documented prior to pregnancy. However, widespread pain recurred within 6 weeks after delivery, accompanied by a recurrence of multiple severely hyperactive foci on bone scintigraphy. Alterations of immune modulated processes and changes in bone mineral homeostasis and in endogenous cortisol metabolism during pregnancy can be considered as possible explanations for the temporary improvement in clinical and scintigraphic signs of progressive diaphyseal dysplasia in this patient.
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6/6. Camurati-Engelmann disease: a late and sporadic case with metaphyseal involvement.

    A 40-year-old white man with a 3-year history of mild to severe right thigh and knee pain was referred for radiographic investigation. Radiographs show a fusiform, bilaterally symmetrical enlargement of the diaphyses and metaphyses of the long bones (femur, tibia, fibula, radius and ulna). A narrowed medullary cavity is illustrated on CT scan of the femur. All bones show periosteal and endosteal bone formation. There is no history of familial involvement, trauma, infection or systemic illness. blood chemistry could not point out any abnormality. Radiographic findings and clinical history suggest the diagnosis of Camurati-Engelmann disease, also known as progressive diaphyseal dysplasia (PDD). This case is of interest because of its rare metaphyseal involvement, mild form and sporadic presentation.
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keywords = tibia
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