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.     

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.     

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.     

Mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata

Summary A 64-year old man, presenting pain in his back and left sciatalgia, was found to have a mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata. Oval and round densities were found in the humeral heads, elbows, wrists, hands, pelvis, knees, feet. Striata densities were in the diaphyses of metacarpal and metatarsal bones. Bone scan was negative. Standard biochemical examinations of the blood and urine were negative. According to our investigations no evidence of osteopoikilosis other sclerosing bone dystrophies were found in the family of our patient. These data were discussed.     

Aseptic bone necrosis in patients on glucocorticoid replacement therapy.

The incidence of aseptic bone necrosis in 167 patients on glucocorticoid replacement therapy in our hospital was found to be 2.4% (4 patients). The diagnosis was made 16 months to five years after initiation of the therapy. A review of eight other cases reported in the literature is presented. The incidence of aseptic bone necrosis in patients on glucocorticoid replacement therapy seems much higher than might be expected. It is suggested that the dose of glucocorticoid substitution therapy be established individually at the lowest acceptable level.     

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.     

骨髓涂片与切片联合应用在淋巴瘤诊断和分期中的价值

目的 探讨淋巴瘤骨髓涂片切片联合应用在淋巴瘤和分期中的价值。方法 对１１４例淋巴疚的外周血、骨髓液涂片采用瑞染色、骨髓活检采用塑料包理后半薄切片,常规化学染色。结果 ７例霍奇金淋巴瘤骨髓涂片、红片均均未见淋巴瘤细胞。１０７例非霍奇金淋巴瘤中３２例（２９．９％）骨髓受累。其中１３例（４０．６％）原分期属Ⅰ、Ⅱ和Ⅲ期,后经骨髓检查升至Ⅳ期;３２例中５例无浅表淋巴结肿大者,经骨髓涂片及切片检查衙确诊为Ｎ     

Bone Mineral Affection in Asymptomatic Adult Patients with Celiac Disease

Objectives: Osteopenia is a well-known complication of overt celiac disease, but whether such defective bone mineralization is present among asymptomatic or silent patients is not known. Our objectives were: 1 ) to examine bone mineralization of a group of asymptomatic celiac patients; 2 ) to compare these results with those of symptomatic patients. Methods: Bone mineral density of the spine and total skeleton by dual energy x-ray ab-sorptiometry and serum parameters of mineral metabolism of eight recently diagnosed asymptomatic patients with celiac disease were studied. Results were compared with those obtained in 20 untreated symptomatic celiacs, 14 patients treated with gluten-free diet for a mean time of 15 yr, and 153 healthy adult subjects, matched by sex and age. Results: Four and five out of eight asymptomatic patients presented with reduced mineralization of the spine and the total skeleton, respectively (>1 SD below normal values for sex and age). Two patients presented with severe osteopenia of the spine, and the other three presented with severe osteopenia of the whole skeleton (>2 SD below mean normal values). Osteopenia at plane bone level (total skeleton) was significantly lower when compared to healthy controls ( P < 0.02). Symptomatic untreated patients had significantly more severe deterioration of bone mineralization than did asymptomatics ( P < 0.05) and treated patients ( P < 0.05). No difference in bone mineral density was observed between treated patients and asymptomatic celiacs. Serum levels of calcium, alkaline phosphatase, 25-OH vitamin D, and parathormone did not show conclusive abnormalities. Conclusions: Our findings provide direct evidence that reduced bone mineralization occurs in asymptomatic celiac patients before any other symptom becomes evident. Only early diagnosis and treatment of celiac disease can avoid the deterioration of the bone structure observed in all clinical status of celiac disease.     

Clinical study of the French cohort of Gaucher disease patients

A census is currently being carried out of the French cohort of Gaucher disease patients. This article describes its preliminary results, obtained by analysing the records of 101 patients for whom clinical and laboratory data were accessible while they were receiving enzyme therapy. At the time of diagnosis, all patients presented with splenomegaly, 70% had asthenia and one in three was already affected by major bone damage. After 1 year of enzyme therapy, splenomegaly had diminished by half and the different scores (asthenia, bone pain and abdominal pain, etc.) had markedly improved, as had the biochemical markers. As for the 6 patients affected by type 3 Gaucher disease and treated with enzyme therapy after the onset of neurological signs, a stabilisation or even some improvement of the disease was observed. In-depth study of the French cohort should make it possible to formulate consensus recommendations for the future, based on well-established data.     

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.     

Effects of a new aminodiphosphonate (aminohydroxybutylidene diphosphonate) in patients with osteolytic lesions from metastases and myelomatosis. Comparison with dichloromethylene diphosphonate

We have compared in an open trial the clinical and biochemical effects of a new aminodiphosphonate, aminohydroxybutylidene diphosphonate, with those of dichloromethylene diphosphonate, which has been proved effective. The patients presented extensive and symptomatic bone involvement from multiple myeloma, breast cancer, and other metastatic tumors. The treatment consisted of aminohydroxybutylidene diphosphonate, 2.5 mg/d intravenously for five days, or dichloromethylene diphosphonate, 300 mg/d intravenously for seven days, followed by 100 mg/d intramuscularly for ten days. Twelve patients treated with aminohydroxybutylidene diphosphonate and 16 patients treated with dichloromethylene diphosphonate were assessable and were followed up for one to six months. Therapy with aminohydroxybutylidene diphosphonate showed a quicker action in reducing bone pain and reduced significantly more the serum calcium level than did therapy with dichloromethylene diphosphonate. Aminohydroxybutylidene diphosphonate therapy also affected urinary calcium levels and hydroxyproline excretion more markedly than did dichloromethylene diphosphonate, although the differences are not statistically significant. However, the biochemical indexes rebounded more quickly in patients treated with aminohydroxybutylidene diphosphonate, indicating that the loading amount (only 12.5 mg) used in this preliminary study is insufficient to sustain a prolonged effect. The effectiveness and lack of side effects render aminohydroxybutylidene diphosphonate an attractive treatment for malignant bone resorption.     

Constitutive elevation of serum alpha-fetoprotein in Fanconi anemia

The diagnosis of Fanconi anemia (FA) is based on the association of congenital malformations, bone marrow failure syndrome, and hypersensitivity to chromosomal breaks induced by cross-linking agents. In the absence of typical features, the diagnosis is not easy to establish because there is no simple and cost-effective test; thus, investigators must rely on specialized analyses of chromosomal breaks. Because we observed elevated serum alpha-fetoprotein (sAFP) levels in FA patients, we investigated this parameter as a possible diagnostic tool. Serum AFP levels from 61 FA patients and 27 controls with acquired aplastic anemia or other inherited bone marrow failure syndromes were analyzed using a fluoroimmunoassay based on the TRACE technology. Serum AFP levels were significantly more elevated (P <.0001) in FA than in non-FA aplastic patients. In the detection of FA patients among patients with bone marrow failure syndromes, this assay had a sensitivity of 93% and a specificity of 100%. This elevation was not explained by liver abnormalities. Levels of sAFP were unchanged during at least 4 years of follow-up, and allogeneic bone marrow transplantation did not modify sAFP levels. Three of 4 FA patients with mosaicism as well as 5 of 6 FA patients with myelodysplastic syndrome were detected by this test. Heterozygous parents of FA patients had normal sAFP levels. Measurement of sAFP levels with this automated, cost-effective, and reproducible fluoroimmunoassay could be proposed for the preliminary diagnosis of FA whenever this disorder is suspected.     

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.     

Pleomorphic carcinoma of the lung: a report of six cases

We presented six patients with pleomorphic carcinoma of the lung. There were 4 male and 2 female whose ages ranged from 43 to 64 years, with a mean age of 54.3 years. While two patients were nonsmoker, four patients were current smoker, with a mean smoking history of 52.5 (30-90) pack-years. Bronchoscopic examination detected endobronchial lesion in three patients. The diagnosis of pleomorphic carcinoma was established with cutting needle biopsy in one case and with thoracotomy in five cases. Epithelial component was squamous cell carcinoma in three cases and adenocarcinoma in the other three cases. There was bone metastasis in one case. She received chemotherapy and died two months after therapy. Among five patients who underwent surgery, pathologic staging was Stage IB in two patients, Stage IIB in two patients and Stage IV in one patient. Treatment modality was lobectomy in three cases and pneumonectomy in two cases. Survival time for patients after surgery was 2 to 20 months. In conclusion, pleomorphic carcinoma is a rare tumor of the lung. Diagnosis is frequently established with thoracotomy. These tumors have poor prognosis.     

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.     

The efficacy of abdominal and pelvic ultrasound in the emergency department

To assess the diagnostic value of abdominal and pelvic ultrasound to the emergency physician, we followed 43 patients who required ultrasound out of 1,010 patients who presented to the emergency department with abdominal pain and/or vaginal bleeding during the 33-week study period. Ultrasound confirmed the preliminary diagnosis in 12 patients, was supportive in eight patients, and ruled out the preliminary diagnosis in 23 patients. Ultrasound often shortened the evaluation process by narrowing the differential diagnosis or by excluding potentially serious conditions, thus eliminating the need for additional testing and frequently allowing for safe discharge of the patient. We found ultrasound to be helpful, as well as cost-effective, in certain patients with abdominal pain and/or vaginal bleeding in whom an emergency department evaluation without ultrasound could not exclude a condition necessitating admission or urgent surgery.     

Primary lung involvement in Waldenstr?m's macroglobulinaemia: report of two cases and review of the literature.

Pulmonary involvement in Waldenstr?m's macroglobulinaemia (WM) occurs in 3-5% of cases, but lung involvement without bone marrow infiltration is extremely rare. We report 2 patients who presented with bilateral consolidations on chest X-ray and non-specific symptoms and were treated for a long period of time for pulmonary infections until the diagnosis was made by open lung biopsy. Both patients presented high monoclonal IgM in the serum and one also had blood lymphoplasmacytosis. Trephine bone biopsy and bone marrow smears were normal and there was no other site of involvement. Along with the presentation of our patients, we review the literature, discuss some of the possible underlying mechanisms and raise the attention of clinicians to this rare manifestation of the disease.     

Therapy-related myelodysplasia and/or acute myeloid leukaemia after autologous haematopoietic progenitor cell transplantation in a prospective single centre cohort of 221 patients

To evaluate the incidence and the predictive signs of therapy-related myelodysplasia and/or acute myeloid leukaemia (tMDS/tAML), we undertook a prospective study over a 4-year period of 221 patients who underwent autologous haematopoietic progenitor cell transplantation. Only seven patients (3.1%) were identified to have tMDS/tAML. Peripheral cytopenia was the first sign; diagnosis could be achieved by cytological analysis of bone marrow smears using World Health Organization criteria. All patients presented with bi- or trilineage dysplasia. Haematopoietic reconstitution was significantly delayed in patients progressing to tMDS/tAML compared with the control group. Typical cytogenetic abnormalities were observed in five of seven patients. The mean time interval between transplantation and cytological diagnosis, or detection of cytogenetic abnormalities, was 20.0 months and 31.2 months respectively. Pantelomeric fluorescence analysis using quantitative fluorescence in situ hybridization enabled us to make two major observations: (i) the fluorescence intensity in metaphases of all autografted patients was weak, and highly variable between tMDS patients; (ii) a drastic reduction of the telomere fluorescence intensity was observed in two patients who rapidly evolved to acute leukaemia. In conclusion, early detection of tMDS/tAML could be achieved by close follow-up of the bone marrow repopulation, and confirmed by cytological bone marrow examination and cytogenetic study. Our results address the implication of several factors, such as the initial telomeric status, and the effect of cytogenetic abnormalities and clonal expansion on bone marrow repopulation.