Coexistence of osteopoikilosis and discoid lupus erythematosus: a case report

Osteopoikilosis is an uncommon, benign sclerosing bone dysplasia characterised by typical roentgenographic findings and usually seen in patients with dermatological problems. We report a case of osteopoikilosis and discoid lupus erythematosus presenting with skin and mucosal involvement, an association that has never previously been reported. We also discuss the differential diagnosis and the clinical pathologies accompanying osteopoikilosis in the literature. Received: 30 July 2001 / Accepted: 11 February 2002     

Osteopoikilosis in a patient with rheumatoid arthritis complicated with dry eyes

Osteopoikilosis is an uncommon sclerosing bone dysplasia of unknown etiology. It is usually detected as a coincidental finding at radiographic examination. Mild joint pain and swelling may be seen in 15–20% of cases. Osteopoikilosis is rarely associated with rheumatoid arthritis. In this case report a young man with osteopoikilosis who was diagnosed as having rheumatoid arthritis complicated with dry eyes is presented. Although patients with osteopoikilosis may have articular symptoms, those patients should be carefully examined for a possible association with a rheumatic condition.     

Osteopoikilosis in an ancient skeleton: more than a medical curiosity

We describe the palaeopathologic and radiographic findings of the human skeletal remains that belonged to a female who lived in Mexicos viceroyship period (seventeenth and eighteenth centuries A.D.). Radiographic studies showed numerous, radiodense, ovoid, small and well-defined foci in the long tubular bones, sacrum, scapulae and iliac bones. Computed tomography (CT) examination revealed multiple hyperdense foci located in the central marrow portion of the bones. Measurements of attenuation coefficient revealed +1548 HU. The findings are consistent with osteopoikilosis, an uncommon, benign sclerosing bone dysplasia transmitted in an autosomal dominant fashion, which in the clinical setting is important to set apart from different bone pathologies to avoid unnecessary interventions and treatments. To the best of our knowledge, this is the first report of osteopoikilosis in ancient human remains.     

Osteopoikilosis: report of 3 cases and review of the literature

Osteopoikilosis, osteopathia condensans disseminata, is a rare hereditary autosomal dominant sclerosing bone dysplasia, more common in males. The diagnosis is usually made incidentally from radiographs which show multiple, small, well-defined, variably shaped and widely distributed (over the skeleton) sclerotic areas. The involvement is symmetrical, and the predilected locations are the phalanges of the hand, carpal bones, metacarpals, foot phalanges, metatarsals, tarsal bones, ilium, femur, radio and sacrum. It must be distinguished from melorheostosis, osteopathia striata and fundamentally from osteoblastic bone metastases, on the basis of the clinical, radiological (roentgenographs, computed tomography and magnetic resonance) and radionuclide scanning characteristics. Histologically, there are focal condensations of compact lamellar bone within the spongiosa. We report three cases of osteopoikilosis and review the literature. Two cases didn't have affectation in phalanges of the hand, which had not been previously reported, to our knowledge.     

Clinical features of ten cases of osteopoikilosis

A retrospective study was carried out of the ten cases of osteopoikilosis seen at this Orthopedic Unit over a 15-year period in order to determine the reasons why patients seek consultation, preliminary diagnosis, and associated lesions. Eight patients consulted for problems not related to the locomotor apparatus, and diagnosis was by chance; the other two presented joint pain. The preliminary diagnosis was osteoblastic metastasis in five patients and osteopoikilosis in the other five. None of the patients displayed skin or visceral involvement, but three presented bone alterations. Definitive diagnosis was made by measurement of biochemical markers of bone remodeling, radiography of both hands, and bone scan. Bone biopsy was performed in one case. Although rare, the radiographic symptoms of osteopoikilosis are sufficiently specific to avoid false diagnoses, which may give rise to rigorous and expensive studies for other important disorders.     

Klippel–Feil syndrome with osteopoikilosis in a young lady and her four female relatives with osteopoikilosis

Osteopoikilosis is a rare, usually asymptomatic, autosomal dominant bone disorder, which is usually found incidentally on X-ray. Klippel–Feil syndrome is a rare disorder characterized by the congenital fusion of any two of the seven cervical (neck) vertebrae. It is caused by a failure in the normal segmentation or division of the cervical vertebrae during the early weeks of fetal development. In this case report, we describe a woman with osteopoikilosis associated with type 2 Klippel–Feil syndrome. Additionally, four female members of her family had osteopoikilosis. We state that possible syndromes that can go with osteopoikilosis must be kept in mind in case of an incidental diagnosis in daily practice.     

Idiopathic myelofibrosis with nodal, serosal and parenchymatous infiltration. Case report and review of the literature

Idiopathic myelofibrosis (IMF) is a breakpoint cluster region rearrangement-negative chronic myeloproliferative disease with progressive bone marrow fibrosis. We report a female patient (65 years old) who was admitted to our hospital in 1996. Trephine bone marrow biopsy revealed diffuse fibrosis with atypical multilobulated megakaryocytes. A cellular phase of IMF was diagnosed. Three years later, despite being at intermediate risk, the patient developed generalized lymphadenopathy and multiple sclerosing tumors throughout the peritoneum and retroperitoneum. Biopsy specimens from these tumors revealed sclerosing hematopoietic infiltrates. The present case demonstrates that IMF not only can progress to acute leukemia but can also spread uncontrollably, or 'metastasize' with extensive sclerosing hematopoietic tumors throughout the body.     

Chronic diffuse sclerosing osteomyelitis treated with risedronate

We describe a 21-year-old woman with chronic diffuse sclerosing osteomyelitis (CDSO) of the left femur. The patient presented with shortening of the left leg and intractable pain that was unrelieved with conventional analgesia. Radiological imaging and open bone biopsy confirmed the diagnosis of chronic diffuse sclerosing osteomyelitis. Treatment with risedronate was commenced and a dramatic response in the patient's symptoms and biochemical markers of bone turnover was observed. To our knowledge this is the first case of CDSO treated successfully with risedronate.     

Buschke-ollendorff syndrome in a grande multipara: A case report and short review of the literature

A 36-year-old short-statured grande multipara (gravida 10, para 8) with diabetes mellitus and hyperlipidaemia was incidentally found to have Buschke-Ollendorff syndrome (osteopoikilosis and dermatofibrosis lenticularis disseminata). The pelvis and hips, followed by the knees, were the sites mainly affected by the osteopoikilosis. The lumbosacral spine was also affected. She had a single connective tissue naevus on the right thigh. Apart from two abortions, the repeated pregnancies were uneventful and all her deliveries were normal at full-term or nearly full-term. With regard to the relationship between Buschke-Ollendorff syndrome and multiparity, it was apparent that multiparity did not affect the involved weight bearing bony structures, nor did the disseminated osteopoikilosis interfere with the endurance of multiple pregnancies. Buschke-Ollendorff syndrome is known generally to have a benign course, a feature that is illustrated in this case, even when associated with the stresses of multiparity. The report also provides a short and updated review of various clinical aspects of the syndrome and its associations, some of which are of a serious nature.     

Prevalence and prediction of osteopenia in chronic liver disease

To obtain information on the prevalence and clinical and laboratory correlates of osteopenia in patients with chronic liver disease, we measured bone densities and 30 selected laboratory variables in 133 subjects (70 men, 63 women) with liver disease. Thirty-two had alcoholic liver disease, 18 had primary biliary cirrhosis, 16 had primary sclerosing cholangitis, 48 had other forms of cirrhosis (cryptogenic, posthepatic) and 19 had chronic hepatitis or fibrosis without cirrhosis. Bone densities of the lumbar spine and three sites of the proximal femur (neck, Ward's triangle, greater trochanter) were estimated by dual-photon absorptiometry. Bone densities at all sites were significantly correlated to one another (r = 0.4 to 0.9; 95% confidence intervals = 0.24-0.54 to 0.81-0.90; p less than 0.0001 for all). Compared with an age- and gender-matched reference group, patients with liver disease had highly significant decreases in bone densities (greater than 2 standard deviations below control values; p less than 0.0008 at all sites). Decreases were particularly marked (24% to 42%) at Ward's triangle, the site of the femoral neck particularly prone to fracture. The prevalence of decreased bone densities ranged from 10% to 56%, depending on the site studied and the nature of the liver disease. Among 30 laboratory variables studied, there were significant (p less than 0.05) correlations with bone densities at more than one site for urinary creatinine (r = 0.21, 0.25), urinary calcium (r = -0.18, -0.23), serum total alkaline phosphatase (r = -0.18, -0.27) and the liver-1 isozyme of serum alkaline phosphatase (r = -0.19, -0.26).(ABSTRACT TRUNCATED AT 250 WORDS)     

Association of primary sclerosing cholangitis with HLA-B8.

The frequency of HLA antigens was studied in 25 patients with primary sclerosing cholangitis and compared with a control group of 562 kidney donors. Fourteen patients also had ulcerative colitis. A significant increase in the frequency of HLA-B8 (60%) was found in the primary sclerosing cholangitis patients compared with controls (25%) (p less than 0.001). HLA-B8 was found in eight patients with ulcerative colitis. The frequency of HLA-B12 was significantly decreased (8%) compared with controls (30%) (p less than 0.02). Piecemeal necrosis was observed on liver histology in 66% of HLA-B8 positive and 50% of HLA-B8 negative patients. Low titres of serum autoantibodies were frequently found in the primary sclerosing cholangitis group but did not correspond to the presence of HLA-B8. Raised serum concentrations of IgM and IgG were not related to HLA-B8. This study has shown that in patients with primary sclerosing cholangitis there exists a disease susceptibility gene closely associated with the B locus of the major histocompatibility complex which may be modified by other factors such as ulcerative colitis. Patients with ulcerative colitis and HLA-B8 may be particularly liable to develop primary sclerosing cholangitis.     

Osteopoikilosis: 2 clinical cases

Osteopoikilosis is a rare, benign and autosomal dominant bone disease. It is usually asymptomatic and diagnosed as a radiological finding. Plain X- Ray films show multiple sclerotic lesions on periarticular areas, epiphyses and metaphyses of long tubular bones. The authors describe two cases of osteopoikilosis in subjects belonging to the same family (brothers).     

Bone density in generalized osteoarthritis

The densities of trabecular and cortical bone in the radius were measured by computed tomography in 40 women with generalized osteoarthrosis (osteoarthritis, GOA), and the results were compared to normal values obtained from prediction equations. When age, weight and height were considered, no significant differences were observed between patients with GOA and normal controls. But when age only was considered, trabecular bone density in the distal radius was found to be 7% higher than predicted (p less than 0.05). Increased trabecular bone density is unlikely to be an etiopathogenetic factor in GOA although this cannot be completely excluded from our study.     

骨密度测量在职业性氟中毒诊断中的应用

目的　观察骨密度测量在职业性氟中毒诊断中的应用价值。方法　运用 SD- 10 0 0型单光子吸收法定量测定某铝厂接触氟工人 113人 ,并与该厂非接触氟职工 80人的骨密度及 X线平片的资料进行比较。结果　氟作业者骨密度增高、骨皮质增厚及骨髓腔增大的异常率都显著高于正常人群 (P <0 .0 1) ;曾经 X线平片诊断为氟骨症者 ,骨密度检查的异常率基本上是符合的 ,而 X线平片没有诊断骨密度异常者 ,用骨密度测定能发现其中大部分骨密度异常。结论　骨密度测量对早期氟中毒检查的灵敏度高 ,在氟中毒的诊断中有一定的应用价值。     

The metabolic bone disease of primary sclerosing cholangitis

The incidence and severity of osteopenic bone disease in primary sclerosing cholangitis is poorly defined. Clinical, biochemical and radiographic assessment and bone mineral density measurements of the lumbar spine were carried out in two groups of patients. Group 1 consisted of 30 patients with advanced primary sclerosing cholangitis; group 2 consisted of 18 patients with newly diagnosed primary sclerosing cholangitis. Only one patient had bone pain. All patients were normocalcemic; two had elevated serum parathormone levels. Fourteen patients (47%) from group 1 but no patients from group 2 had low serum 25-hydroxyvitamin D levels. Mean bone mineral density was significantly reduced in group 1 patients (0.97 +/- 0.04 gm/cm2) compared with age-matched and sex-matched controls (1.25 +/- 0.01 gm/cm2, p less than 0.0001), and in 15 patients (50%) bone mineral density was below the fracture threshold (0.98 gm/cm2). The bone mineral density in group 2 was not significantly different from controls, and no patient was below the fracture threshold. In neither group did bone mineral density correlate with serum bilirubin, 25-hydroxyvitamin D, fecal fat excretion, previous drug therapy or the presence of chronic ulcerative colitis. Histomorphometrical examination of bone from four group 1 patients showed increased bone resorption, reduced bone formation, moderate-to-severe osteopenia and no osteomalacia. In conclusion, severe osteopenic bone disease is common in advanced primary sclerosing cholangitis and, like that seen in other cholestatis diseases, is consistent with osteoporosis.     

Osteopoikilosis--rare, hereditary determined, benign bone dysplasia. case report

Osteopoikilosis is a rare, hereditary disorder of bone tissue. Most frequently this abnormality is asymptomatic and diagnosed incidentally on the basis of X-ray images, taken on other occasions. The characteristic radiographic appearance consists of oval or round, well-defined osteosclerotic foci in various sites of skeleton (pelvis, hands and feet, epiphyses of long bones). In the present paper a case of inborn osteopoikilosis in 23-year-old female patient is described. Typical bone abnormalities founding in her mother implicate an inherited character of this disorder.     

Linear scleroderma and melorheostosis: Case presentation and literature review

Summary The case of a 9 year-old male patient with linear scleroderma and melorheostosis of the iliac bone is described. Radiological findings suggestive of osteopoikilosis were found in carpal and tarsal bones. A review of the literature on this unusual disease association is made.Supported in part by Research Funds from Fundación Reumatoógica Argentina Dr. Osvaldo García Morteo.     

Coexistence of osteopoikilosis with reactive arthritis: a case report

Osteopoikilosis, a form of osteosclerotic disorders, is a rare bone dysplasia with typical radiologic findings. The pathology, which sometimes requires attention in differential diagnosis due to its radiologic appearance, has been reported previously with other diseases. In this report, a case diagnosed with both reactive arthritis and osteopoikilosis will be presented and current arguments about its differential diagnosis and pathophysiology and concomitant disorders shall be discussed.     

Melorheostosis: Report of a new case with linear scleroderma

Melorheostosis is a very rare bone disease of unknown etiology characterised by linear hyperostosis and associated with fibrosis of soft tissues and the skin. This uncommon sclerosing bone dysplasia was first described by Leri and Joanny in 1922, and since then, until 1993, approximately 300 cases were reported in the literature. Linear scleroderma is a localised proliferation of connective tissue and has rarely been associated with melorheostosis.In this paper, we present a new case of melorheostosis with linear scleroderma which, to the best of our knowledge, is the first case reported in Turkey.     

Identification of Enterocytozoon bieneusi in a patient with sclerosing cholangitis and AIDS

Enterocytozoon bieneusi is the most common microsporidian parasite found in patients with AIDS. We report the clinical features of a patient with chronic diarrhea, pancreatitis, and AIDS-related sclerosing cholangitis. Ultrasonography and endoscopic retrograde cholangiopancreatography disclosed intrahepatic and extrahepatic bile duct changes identical to those seen in sclerosing cholangitis. Enterocytozoon bieneusi was found in duodenum and peripapillary duodenum by means of light microscopy, and confirmed by PCR amplification of paraffin-embedded tissues with species-specific primers. Microsporidian infection should be suspected in patients with advanced immunodeficiency and AIDS-related sclerosing cholangitis in our country.