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Results for “Osteolysis, Essential”

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At least 19 recordsLinked to original sources
PubMed1986

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↗
PubMed1991

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↗
PubMed1991

[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↗
PubMedDate not supplied

Gorham's disease: a literature review and case reports.

Gorham's disease (disappearing bone disease, massive osteolysis, idiopathic osteolysis, essential osteolysis, progressive atrophy of bone, spontaneous absorption of bone, phantom bone, hemangiomatosis/lymphangiomatosis of bone, progressive osteolysis) is an extremely rare occurrence. There are fewer than 150 reported cases in the literature. This disorder can be characterized by spontaneous or posttraumatic progressive resorption of bone. The etiology is still very speculative, the prognosis unpredictable, and any effective therapy still unknown. This paper presents a review of the literature and two case reports of suspected Gorham's disease of the bones of the foot.

Adult↗
PubMed1980

[Essential deformans osteolysis. Report of a case with progressive and generalized evolution (author's transl)].

The authors report a clinical and radiographic course of a 16 years old caucasian girl with a progressive deformation of her skeleton. The primary lesions occur in knees and wrists. This disease was at first considered as a rheumatoid arthritis, then as a dysplasia epiphysialis multiplex, and now as essential deformans osteolysis (with carpal lysis, shortening of the forearm bones, dislocation of the elbows, disparition of the humeral and femoral heads, contracture of hips and knees, posterior tarsal lysis, and kypho-scoliosis). The clinical (particularly ophtalmologic), biological (including inflammatory, phospho-calcic and nephrologic evaluation with mucopolysaccharidosis urinary excretion) and histological (skin, muscle and bone) check-up were normal. They review the different classification established on lesion topography, on association or not with a nephropathy, finally on an dominant or recessive autosomal inheritance. Then the authors think that their case is similar to the ones of Winchester and Hollister. They discuss the etiopathogenic factors, and do not consider their case as a new mucopolysaccharidosis, but rather as a generalized disease of the collagen of bones.

Adolescent↗