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Distal osteolysis, short stature, mental retardation, and characteristic facial appearance: delineation of an autosomal recessive subtype of essential osteolysis.

We describe the concurrence of severe distal osteolysis, mental retardation, short stature, and characteristic facial appearance with maxillary hypoplasia and relative exophthalmos in two adult sibs, a 57-year-old woman and her deceased brother. Apparently they represent a distinct, autosomal recessive entity in the group of the so-called essential osteolysis. Furthermore, this observation confirms that the facial changes that may occur in patients with essential osteolysis, ie, maxillary hypoplasia and relative exophthalmos, may be present in all types of osteolysis, independent of their localisation or inheritance.

Female

Essential osteolysis associated with nephropathy, corneal opacity, and pulmonary stenosis.

We report on 5-year-old girl with essential osteolysis, nephropathy, corneal opacity, and valvular pulmonary stenosis. The patient was initially seen for evaluation of flexion contractures at wrists, elbows, and knees. Radiographic examination showed osteolytic changes primarily involving the hands and feet. She had persistent proteinuria; renal biopsy disclosed focal glomerulosclerosis in 1/3 of glomeruli. Electron microscopic study of skin fibroblast showed dilated and vacuolated rough endoplasmic reticulum. To our knowledge essential osteolysis associated with the aforementioned disorders has not been previously reported.

Child, Preschool

[Essential osteolysis. Study of 3 cases and a classification trial].

Disappearing bone disease is a rare syndrome, characterized by an idiopathic and spontaneous progressive resorption of bone, for which different etiologies must be considered. The classification of this disease is difficult; acro-osteolysis involves the phalanges or the carpus and tarsus. Massive osteolysis corresponds to diffuse multicentric cystic hemangiomatosis and Gorham and Stout's disease. We describe two cases of acro-osteolysis and one of Gorham and Stout's disease. The mechanism of disappearing bone disease remains unknown and no treatment has yet been found to stop its evolution.

Adult

Bone metastases and tumor-induced hypercalcemia.

Tumor-induced hypercalcemia and tumor-induced osteolysis are essentially due to a marked increase in osteoclast-mediated bone resorption, although the kidneys play an important contributory role in the genesis of tumor-induced hypercalcemia. Parathyroid hormone-like protein plays an essential role in tumor-induced hypercalcemia, and maybe in tumor-induced osteolysis, but other factors could also be responsible for the osteoclast activation secondary to the neoplastic infiltration of the skeleton. Treatment of tumor-induced hypercalcemia essentially consists of volume repletion and administration of potent anti-osteolytic drugs. The bisphosphonate pamidronate is particularly useful for that matter and a dose of 1.0 to 1.5 mg/kg can normalize serum calcium in about 90% of hypercalcemic cancer patients. The apparently low response rate of bone metastases to systemic antineoplastic therapy seems to essentially reflect the relative insensitivity of our current methods for assessing response in tumor-induced osteolysis. Newly developed biochemical markers of bone turnover could be particularly useful for that matter. Bisphosphonates are the most potent of the available inhibitors of osteoclast activity. Prolonged administration of oral pamidronate could reduce by almost one half the complications of tumor-induced osteolysis, and repeated bisphosphonate infusions could induce a dramatic relief of bone pain in one third and a sclerosis of lytic lesions in one fourth of the cases. These data must, however, be confirmed in randomized, blinded trials and many questions remain unanswered concerning the optimal therapeutic schemes. Medical therapy of tumor-induced osteolysis by noncytotoxic means has nevertheless become a reality.

Antineoplastic Agents

[Essential bone cysts of the jaw. Apropos of an unusual care].

After reviewing the literature, the authors present an unusual case of essential bone lacunae. These lesions involve part of the upper maxillary and the entire horizontal branch of the mandible. The diagnosis was confirmed by surgical exploration and histological studies. During the following 8 years, surgical curetting was performed three times, without producing a bony cicatrisation of the cavities.

Adult

Metastatic bone disease: clinical and therapeutic aspects.

Breast and prostate carcinomas are the tumors most commonly associated with skeletal metastases, and the skeleton is the most common site of metastatic disease and of first distant relapse in breast cancer. Bone metastases are the source of considerable morbidity, including pain and functional disability, fractures, hypercalcemia, and epidural compression. The classical radionuclide bone scan remains the most effective tool for the screening of metastatic bone disease, but X-rays are more specific and remain the essential tool for the diagnosis and characterization of bone metastases. Computed tomography is much more useful to diagnose early metastatic involvement of bone, particularly of the spine. Patients with exclusive skeletal metastatic involvement are still frequently excluded from classical therapeutic trials because of the difficulties in the assessment of response. Recalcification of osteolytic lesions is indeed required when defining an objective response, but this criterion is insensitive and not quantitative. Moreover, the development of new osteoblastic lesions is often of difficult interpretation. A concomitant bone scan will help, but the absence of quantification of the changes and the "flare" phenomenon limit the usefulness of the technique. Pain and quality of life constitute simple, but frequently neglected, parameters of response to therapy. The clinical utility of tumor markers and of biochemical markers of bone turnover should also be more fully investigated. Neoplastic osteolysis is essentially mediated by the osteoclasts, which seem to be activated, maybe indirectly through the osteoblasts, by some tumor products. Various substances of tumoral origin have been proposed as mediators for this osteoclast activation, such as transforming growth factors, prostaglandins, and, more recently, products of the immune cells or parathyroid hormone-related peptide.(ABSTRACT TRUNCATED AT 250 WORDS)

Bone Neoplasms