Cutaneous oxalosis after long-term hemodialysis.

A 27-year-old woman undergoing long-term hemodialysis developed cutaneous calcifications on her fingers. A skin biopsy specimen showed that the deposits were calcium oxalate. To our knowledge, only one previous article has reported pathologic and crystallographic studies on calcifications of the skin resulting from dialysis oxalosis. We speculate that vitamin C supplements, liberal tea consumption, an increased serum ionized calcium concentration, and the long duration of hemodialysis contributed to the production of these deposits.

Calcium oxalate and other crystals associated with kidney diseases and arthritis.

The recognition of tissue deposits of crystalline material in a variety of organs, including the kidney, predated the association of crystals and arthritic disease. Because of this, the pathophysiology of crystal formation and its resultant inflammation is based in part on studies of renal stones. A number of disease states involving renal and articular crystallization exist. The most common of these, uric acid precipitation, or gout, and calcium phosphate precipitation were not reviewed in this discussion. This review described a variety of less common disease states involving articular and renal crystal deposition. The renal diseases discussed included both parenchymal or ectopic crystal deposition, as seen in nephrocalcinosis or cystinosis, and ductal crystallization as seen in renal calculus disease. The crystals involved included not only calcium oxalate, but also aluminum, amino acids and proteins (cystine, hemoglobin, cryoglobulins, and immunoglobulins), purine metabolites (xanthine, hypoxanthine), and even lipids and their degradative enzymes (cholesterol, phospholipids, phospholipase, and fatty acids). The simultaneous occurrence of crystals in both kidneys and joints was found in some cases to result from the systemic deposition of an excess of a particular biological compound. However, of more interest, some renal deposits were shown to more selectively reflect the normal or abnormal function of the kidney in its secretory and excretory roles. This is particularly evident in the variety of arthritic states described in end-stage renal disease.

Musculoskeletal manifestations of osteomalacia: report of 26 cases and literature review.

OBJECTIVE: This study was undertaken to describe the musculoskeletal manifestations in a selected population of 26 patients with biopsy-proven osteomalacia (OM) and provide a literature update. METHODS: The 26 patients with biopsy-proven OM were selected from a total number of 79 patients who underwent anterior iliac crest biopsy. The diagnosis of OM was confirmed by the presence of an osteoid volume greater than 10%, osteoid width greater than 15 microm, and delayed mineralization assessed by double-tetracycline labeling. RESULTS: OM was caused by intestinal malabsorption in 13 patients, whereas six other patients presented with hypophosphatemia of different causes. Five elderly patients presented with hypovitaminosis D, and in two patients the OM was part of renal osteodystrophy. Twenty-three patients presented with bone pain and diffuse demineralization, whereas three other patients had normal or increased bone density. Characteristic pseudofractures were seen in only seven patients. Six of the 23 patients with diffuse demineralization had an "osteoporotic-like pattern" without pseudofractures. Prominent articular manifestations were seen in seven patients, including a rheumatoid arthritis-like picture in three, osteogenic synovitis in three, and ankylosing spondylitis-like in one. Two other patients were referred to us with the diagnosis of possible metastatic bone disease attributable to polyostotic areas of increased radio nuclide uptake caused by pseudofractures. Six patients also had proximal myopathy, two elderly patients were diagnosed as having polymalgia rheumatica, and two young patients were diagnosed as having fibromyalgia. One of the patients who presented with increased bone density was misdiagnosed as possible fluorosis. CONCLUSION: OM is usually neglected when compared with other metabolic bone diseases and may present with a variety of clinical and radiographic manifestations mimicking other musculoskeletal disorders.

Syphilitic arthritis and osteitis.

Syphilis again has become a significant clinical problem and clinicians must reacquaint themselves with the classic as well as the changing clinical manifestations, new diagnostic methods, interaction with HIV infections, and outcomes of therapy. Musculoskeletal manifestations can be associated with congenital, secondary, and tertiary syphilis and can mimic a wide variety of rheumatic and systemic diseases of worse prognosis. Musculoskeletal manifestations due to congenital and secondary syphilis usually subside completely after accurate diagnosis and antibiotic therapy.

Hypertrophic osteoarthropathy as indication of aortic graft infection and aortoenteric fistula.

Diagnosis of an infected bifurcation graft or aortoenteric fistula can be extremely difficult, and delay in diagnosis may lead to the lethal complication of a ruptured aortoenteric fistula. Hypertrophic osteoarthropathy limited to the lower extremities was the initial symptom of aortoenteric fistula in two of our patients with infected aortic bifurcation grafts. Review of the literature discovered six additional patients with a similar diagnosis, indicating its possible value as an early diagnostic sign of aortoenteric fistula.

Crystal-associated arthropathies.

Crystal-associated arthritis constitutes one of the best-understood inflammatory processes involving joints in humans. It affects mainly middle-aged or elderly individuals and is often seen in association with signs of degenerative joint disease. Articular manifestations of crystalline deposition disease not uncommonly are also the first presentation of reversible metabolic or endocrine disorders. This is an important field for clinicians because the diagnosis can be rapidly and precisely made by synovial fluid analysis. Furthermore, the acute manifestations can be controlled effectively with the administration of colchicine, nonsteroidal anti-inflammatory agents or intra-articular corticosteroid injections. The chronic manifestations of gouty arthritis are also successfully managed with long-term hypouricemic therapy.

Effect of intra-arterial reserpine in patients suffering from Raynaud's phenomenon.

Several papers have established the beneficial effect of Reserpine applied intra-arterially in patients suffering from Raynaud's phenomenon. In the present study this effect was investigated in 15 patients, some of whom had been submitted previously to sympathectomy, and in healthy controls. A solution of 1.25 mg Reserpine in 10 ml normal saline was injected in the course of one minute in the brachial artery. Blood pressure, pulse rate, bilateral finger venous occlusion plethysmography and fingertip temperature measurements were carried out for two hours following the injection. Later, venous occlusion plethysmographic and clinical controls were continued weekly, until the Reserpine effect had ceased. Normal subjects, patients suffering from Raynaud's phenomenon undergoing no surgical treatment and those submitted to preganglionic sympathectomy showed a conspicuous increase in digital blood flow, while in one patient, who had stellectomy the fingerflow remained unchanged. This effect remained chiefly located on the injected side. There were no blood pressure or pulse rate changes while in the lying position. Hypotension by passive orthostasis was observed two hours after the injection. The possible mechanism of Reserpine is discussed.

Supravital staining of synovial fluid with Testsimplets.

We explored the use of Testsimplet (TS) in synovial fluid (SF) analysis. TS is a glass slide coated with a dry mixture of methylene blue and cresyl violet, which in contact with one drop of SF provides a stained fresh preparation. We applied the TS to the study of 159 SFs of patients with different rheumatic diseases. In those SFs of patients with crystal-associated diseases, the crystal search was performed both on unstained preparations and with TS. TS was as good as the Wright's and Papanicolaou stain in characterizing SF cells, lupus erythematosus cells, and detection of occasional bacteria. TS allowed a better visualization of Reiter's cells, cartilage fragments, synovial villi, fat droplets, and fibrin. Crystals were identified in every TS of those patients with crystal-associated diseases. TS is a rapid and reproducible method of SF supravital staining. Crystals are well preserved for simultaneous examination with compensated polarized light.

Fabry's Disease Mimicking an Undifferentiated Connective Tissue Disease.

We describe a patient with Fabry's disease who for many years was seen in other clinics and was thought to have an undifferentiated connective tissue disease or an incomplete form of CREST syndrome. He presented with polyarthralgias; multiple telangiectasia-like lesions in his oral mucosa, hands, and periumbilical area; mild dysphagia; Raynaud's phenomenon; bilateral leg lymphedema; renal insufficiency; and aseptic bone necrosis at both knees. The diagnosis of Fabry's disease was first suspected when ultrastructural studies on his kidney revealed the typical inclusions characteristic of glycosphingolipidosis. Diagnosis of Fabry's disease was later confirmed by finding similar inclusions in skin endothelial cells and demonstrating a low alpha-galactosidase A activity in plasma. Fabry's disease, although rare, must be considered in the differential diagnosis of patients considered to have "atypical undifferentiated connective tissue diseases," even in the absence of classic angiokeratomas.

Prolonged Activated Partial Thromboplastin Time in Systemic Lupus Erythematosus Overlap Syndrome: Fatal Bleeding Due to Factor VIII Inhibitor.

A prolonged partial thromboplastin time in a patient with systemic lupus erythematosus usually is due to a lupus anticoagulant. Antiphospholipid antibodies may be associated with thrombosis. We describe a patient with an overlap syndrome between systemic lupus erythematosus and mixed connective tissue disease who presented with a prolonged partial thromboplastin time due to a high titer of antibodies to factor VIII (acquired hemophilia). The clinical course resulted in a fatal hemorrhage, illustrating the importance of prompt distinction between lupus anticoagulants and clotting factor inhibitors.

Familial Hydroxyapatite Chondrocalcinosis with Spondyloepiphyseal Dysplasia: Clinical Course and Absence of Genetic Linkage to the Type II Procollagen Gene.

We describe the course of the articular manifestations in a kindred with familial hydroxyapatite chondrocalcinosis and because of an associated spondyloepiphyseal dysplasia (SED) have investigated the linkage between the disease and markers in the type II procollagen gene (COL2A1). Twenty-seven family members from a large pedigree underwent musculoskeletal and radiographic examinations. In 12 patients, the progression of the disease was evaluated by comparative radiographic surveys obtained 12 years apart. Seven of the 12 family members who were studied in 1978 had severe progression of erosive hand osteoarthritis, whereas there was only minimal progression of the previously observed intervertebral disc or periarticular calcifications. The disease was recognized in seven other siblings from the third generation at a mean age of 24 years. Mild SED was present in several previously and newly diagnosed patients. Nevertheless, no genetic linkage between the disease and COL2A1 polymorphic markers was found. Hydroxyapatite chondrocalcinosis in this kindred displays a variable spectrum of phenotypic manifestations, which include spondyloepiphyseal dysplasia, precocious and progressive erosive hand osteoarthritis, and intervertebral disc and costal cartilage calcification. The gene responsible for the occurrence of hydroxyapatite chondrocalcinosis, osteoarthritis, and mild epiphyseal dysplasia in this family must be one that encodes a protein other than type II procollagen. The mild SED was most easily detected by examining younger affected members. The apatite deposits in this family seem to be secondary to the SED and should be distinguished from those in primary hydroxyapatite disease as in calcific periarthritis.

Calcium pyrophosphate dihydrate gout and other crystal deposition diseases.

The number of crystal or birefringent particles associated with arthritis is increasing, and a uniform taxonomy is needed. The term gout has been proposed as a generic term for these diseases based on historical, clinical, and crystallographic reasons. Calcium pyrophosphate dihydrate gout follows monosodium urate gout in frequency, and its spectrum of clinical manifestations continues to grow. Familial calcium pyrophosphate dihydrate gout was described for the first time in kindreds studied in England and Tunisia; new Jewish and Spanish kindreds were also reported. Type I collagen was shown to nucleate nativelike calcium pyrophosphate dihydrate crystals, and pyrophosphate elaboration was explored in cartilage explants in an attempt to reproduce the in vivo metabolic or endocrine disorders associated with calcium pyrophosphate dihydrate gout. The effect of pyrophosphatase and different cofactors such as magnesium in dissolving calcium pyrophosphate dihydrate crystals was investigated. High-resolution electron microscopy was used to study the interrelation between apatite and other basic calcium phosphate crystals in apatite gout. Raman microscopy was applied for the first time to identify crystals in biologic specimens. A simple and specific technique for basic calcium phosphate crystal identification is necessary to understand the relationship between different calcium phosphate crystals and osteoarthritis. Several reports about children and young patients with primary oxalate gout described the effect of oxalate on eyes, periodontal tissues, and bone. Multicenter studies showed poor results of renal transplantation, but favored combined liver and renal transplantation.(ABSTRACT TRUNCATED AT 250 WORDS)

Musculoskeletal manifestations of osteomalacia.

Osteomalacia (OM) is a condition that usually is overlooked and neglected when compared with other metabolic bone disease such as osteoporosis. Presenting with a wide spectrum of nonspecific clinical, radiographic, and biochemical manifestations, OM is a treatable metabolic disease that is precisely diagnosed by anterior iliac crest bone biopsy. Clinical clues to lead one to suspect OM in the context of a diffuse bone disease include the presence of generalized bone pain affecting mainly shoulders, hips and rib cage, proximal muscle weakness, low serum calcium x phosphorus product, increased serum alkaline phosphatase, low calcium in the 24-h urine test, and low serum 25 hydroxyvitamin D. Radiographic examination may show a characteristic "erased" or "fuzzy" type of demineralization, pseudofractures, or bone deformities. OM is confined usually to elderly individuals or to those patients with intestinal malabsorption and hypophosphatemia.

The spectrum of myositis and rhabdomyolysis associated with bacterial infection.

OBJECTIVE: (1) To describe the clinical and radiographic features of 6 patients with myositis or rhabdomyolysis associated with bacterial infection. (2) To analyze the role of computed tomography (CT) in myositis associated with bacterial infection. METHODS: Review of cases treated by the authors with literature review. RESULTS: Two patients had classical pyomyositis with Staphylococcus aureus as the etiologic agent. One patient had pyomyositis with Enterobacter cloacae (the first reported to our knowledge), 2 had myositis/fasciitis (one due to Clostridium perfringens and one due to S. aureus), and one had fatal toxic rhabdomyolysis in association with C. perfringens bacteremia without evidence of gas gangrene. No patient had a completely normal CT scan of affected muscles, but CT scans in 3 patients failed to show abscesses that were subsequently discovered at surgery, while in another patient CT scanning falsely suggested a large abscess that was not present at surgery. CONCLUSION: Infection associated muscle involvement represents a spectrum of clinical manifestations that include pyomyositis, myonecrosis, fasciitis/myositis, and toxic rhabdomyolysis. Diagnosis may be delayed by the often mild clinical presentation. CT scanning alone may be unreliable in distinguishing muscle abscess from swollen muscle unless combined with CT guided needle biopsy.

Synovial calcification in a patient with collagen-vascular disease: light and electron microscopic studies.

Unusual articular as well as periarticular calcifications are reported in a patient with collagen-vascular disease. Tiny crystals visible in electron micrographs in synovial membrane and in synovial fluid cell vacuoles resemble apatite and appear most consistent with apatite on electron probe studies. The inflammatory synovial effusion also contained chylomicrons. Other joint diseases associated with synovial calcification or suspected synovial apatite are discussed.