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A case is presented of progressive acro-osteolysis of the hands combined with progressive mandibular ramus osteolysis and multiple cortical defects. The features of acro-osteolysis are reviewed and classified.
KEY POINTS: Multicentric carpotarsal osteolysis, a rare disorder, causes progressive osteolysis and kidney failure because of v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B (MAFB) gene mutations. A genome-edited mouse model carrying the multicentric carpotarsal osteolysis mutation was used to obtain a deeper understanding of this rare disease. Targeting MAFB/IGF-1/PI3K/AKT signaling may provide new treatments for multicentric carpotarsal osteolysis-related nephropathy. BACKGROUND: Multicentric carpotarsal osteolysis (MCTO) is a rare condition characterized by progressive osteolysis and often kidney failure. It is caused by autosomal dominant mutations in the transcription factor v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B ( MAFB ). METHODS: Given the absence of efficacious therapeutic interventions for MCTO and the obscurity of its pathophysiologic mechanisms, we used mice with the MCTO mutation ( MafbMCTO/MCTO mice) to explore the role of MAFB. RESULTS: MafbMCTO/MCTO mice displayed FSGS, mirroring the manifestations seen in patients with MCTO. These mice showed that the MCTO mutation leads to the accumulation of MAFB protein. Heterozygous MafbMCTO/- mice, generated by crossbreeding to reduce MAFB levels, neither exhibited albuminuria nor showed any histologic abnormalities in the kidney, suggesting that excess MAFB was detrimental. We subsequently conducted RNA-seq on the glomeruli from MafbMCTO/MCTO mice and detected pronounced upregulation of the phosphoinositide 3-kinase (PI3K)/AKT signaling pathway through IGF-1. Given that receptor tyrosine kinases activate PI3K/AKT, we treated MafbMCTO/MCTO mice with the inhibitor imatinib. This led to a significant decline in urinary albumin levels compared with the control group. CONCLUSIONS: Our findings demonstrate that the MCTO mutation resulted in MAFB protein accumulation and led to the development of FSGS in mice.
A 59 year old while female with striking carpal and tarsal osteolysis is reported. The process primarily involves the carpals and tarsals but includes other sites. The pertinent literature is reviewed and a simplified classification of idiopathic multicentric osteolysis is presented. Idiopathic multicentric osteolysis may be sporadic but can demonstrate either dominant or recessive inheritance. There may or may not be associated nephropathy. The underlying mechanism appears similar in all variations of this condition. Gorham's disease, the Winchester syndrome, and other osteolytic conditions which may predominantly affect the tarsal and carpal bones most likely are totally different processes, unrelated to idiopathic multicentric osteolysis.
In a 70-year old female patient, a so-called idiopathic massive osteolysis with destruction of the proximal right femur within six months, was observed. Histologically, the following conditions were found at the time of resection: a stroma rich in fibres, with the inclusion of blood vessels, as well as an osteoclastic absorption which was still clearly active at the margins, besides marginally defined processes of bone formation. A good functional result without progressing osteolysis at the femur was achieved via a total endoprosthetic replacement of the right hip joint. Within the following three years, polycystic intramedullar osteolysis developed from a slight loosening of the spongiosa in the right head of the fibula. In contrast to the changes which had occurred at the femur, this was a clear case of a rare intraosseous lymphangioma.
We report a case of idiopathic acro-osteolysis in an 80-year-old, otherwise normal woman. The patient first presented at the age of 70 years with a 3-year history of progressive shortening of the left toes. There was no history of trauma or bone disorders. She had osteolysis of the left second to fourth distal phalanges. Angiography was normal. During follow-up over 10 years the osteolysis gradually progressed and spread to affect the right toes.
A patient who presented with multiple lytic lesions of bone was found to have massive osteolysis. The clinical course of this patient is described and the literature on massive osteolysis reviewed. This disease of uncertain etiology is pathologically marked by resorption of bone, and replacement by angiomas and fibrosis. X-ray findings are usually more severe than expected from the patients' clinical presentation. Laboratory studies, including attempts at biopsy, are generally unrevealing. Drug therapy is of no value, and success of surgical attempts at bone union are unpredictable. Massive osteolysis should be considered in the differential diagnosis of osteolytic lesions, particularly since this disorder can result in serious morbidity.
A mother and son with acro-osteolysis (Hajdu-Cheney syndrome) are described. In addition to osteolysis of the distal phalanges, these patients have a generalized osseous dysplasia with osteoporosis, premature loss of teeth, short stature and a distinctive facial appearance. In one of the cases an enlarged sella turcica was associated with no abnormality of endocrine function. A biopsy specimen taken from an area of active osteolysis in a phalanx was studied by light and electron microscopy. There was active replacement of central medullary bone by a fibrous and angiomatous process characterized by the presence of small, thick-walled vessels and an unusual number of interspersed nerve fibers and mast cells. A neurovascular dysfunction with local release of osteolytic mediators may be involved in the pathogenesis of the disorder, but the nature of the osteolytic factor is unknown.
An unusual case of osteolysis of the distal clavicle in a woman is presented. Although almost 100 cases of osteolysis of the distal clavicle have been reported in the literature, none have occurred in females (Neer and Rockwood, 1984). After acute acromioclavicular dislocation, surgical reduction was carried out by transferring the coracoid process to the clavicle. Three years later the osteolysis of the outer clavicle appeared to be related to pain and functional impairment of the joint. The pain is quite tolerable and surgical excision of the distal clavicle has not yet been necessary.
Post-traumatic osteolysis of the acromial extremity of the clavicle is a rare condition, usually occurring sometime after an injury to the shoulder. Three cases of PTOAC and one case of athlete's osteolysis are reported. The semiology is summed up, as well as the differential diagnoses and the associated forms. This is a benign disease, which should be suggested by the clinical findings and diagnosed on the radiographs, which demonstrate early signs of osteolysis. The treatment is mainly based on immobilization.
Besides their well-known actions, glucagon, ACTH, pentagastrin and insulin from the APUD series exert a direct action on the bone calcium content. Incubation with these substances of rat calvaria in vitro yields an evident stimulation of osteolysis with ACTH. Pentagastrin inhibits osteolysis. Glucagon and insulin inhibit parathormone-stimulated osteolysis, with no influence on the spontaneous one. Glucagon, resembling calcitonin, stimulates the 45Ca uptake from the incubation medium. The action of these substances completes the series of hormones influencing bone calcium metabolism, underlining possible interference actions of APUD-type hormones.
A case of rare osteolysis of the distal clavicle end is reported. Our 36-years old male patients also suffered from a well-discernible Hyperlipoproteinemia, type II/a after Fredrickson. A short view of the various forms of clavicle osteolysis is given. Their differentialdiagnostical and ethiological relations are discussed.
This report calls attention to the complete resorption of the mandibular condyle in progressive systemic sclerosis (scleroderma), a previously unreported finding. This was associated with osteolysis of the ipsilateral coronoid process, both mandibular angles, and autoamputation of the fingertips. The Panorex provides a simple, effective method for studying the mandible in systemic sclerosis. Similar mandibular osteolysis with vinyl chloride exposure is noted.
A clinical, analytical, and radiological study was carried out on three members of the same family with multicentric idiopathic osteolysis. Transmission appeared to be via the dominant autosome present in the mother and two daughters. In the daughters osteolysis was seen in the carpal and tarsal bones, whereas in the mother radiology showed it to be in the phalanges of the hands and feet.
Osteolysis of the acromial end of the clavicle was seen in a 30-year-old man who had played a great deal of handball and softball, apparently as the result of repeated stress to the acromioclavicular articulation. Such osteolysis appears to be self-limited and requires no specific therapy other than rest of the affected area.
In a previous study, we found an overrepresentation of weight lifters in patients who had a resection of the lateral end of the clavicle. To further investigate a possible association between competitive weight lifting and the development of nontraumatic osteolysis of the lateral end of the clavicle, we studied a group of 25 Danish weight lifters. This group was compared to an age-matched control group of 25 men who had never engaged in weight training procedures. None of the subjects had any history of trauma to the shoulder girdle. All 50 subjects underwent radiographic examination of both shoulder joints. In the weight lifter group, seven cases (28%) demonstrated classical radiographic findings of clavicular osteolysis, with loss of subchondral bone detail, translucency, and cystic changes, while four subjects (16%) had subjective symptoms but no radiographic changes. None of the individuals from the control group revealed similar symptoms or radiographic signs. Thus, based on this limited material, the prevalence of the disorder is about 27%.
A case is reported of angiomatous osteolysis of the calvarium. This condition normally affects long bones and there is only one previous report in literature of massive osteolysis of the skull. The clinical, radiological and pathological implications of this condition are considered.
In a 40-year old man undergoing, under local anaesthesia, excision of an epidermal cyst located in the frontal region, at the border of the scalp, the operator had difficulties in removing the deep part of the cyst and perceived an underlying bone depression. The depression was caused by a 2 x 1.3 cm wide lacuna in the calvarium, which was subsequently treated by neurosurgeons. Histology showed only fragments of a simple epidermal cyst wall and no evidence of dermoid cyst. The causes of osteolysis associated with congenital or acquired skin lesions are reviewed. In this case, the old age and volume of the cyst may explain the osteolysis by mechanical compression. This case is exceptional since we were unable to find other examples in the literature, apart from dermoid and trichilemmal cysts.
Loosening of joint replacement components is often multifactorial. The quality of initial fixation is very important to the outcome of the arthroplasty and is often a factor in short-term and long-term failure. This paper discusses another important factor of implant loosening, namely wear debris induced osteolysis. Macrophages activated by the phagocytosis of particulate wear debris are the key cells in this process, which can potentially occur in any implant system regardless of implant design or fixation mode. This is because each implant system creates wear debris from the articulating surfaces and the interfaces. The clinical consequences of wear debris cover a broad spectrum from radiolucencies to massive osteolysis and implant failure. For this reason, the reduction of wear debris should be a primary goal of orthopedic research in the future.