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 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.     

Case report of a patient with osteopoikilosis

Osteopoikilosis (OPK) is an uncommon osteosclerotic dysplasia. There is no exact evidence of its etiology and pathogenesis. Usually, it is an asymptomatic disease, and the diagnosis is made incidentally from radiographs, which show multiple, small, well-defined, variably shaped and widely distributed sclerotic areas over the skeleton. In this study, we report a 54-year-old man who suffers from back and leg pain and was diagnosed OPK by radiologically and review literature.     

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.     

HIV阳性患者合并多发骨坏死1例

HIV阳性患者发生骨坏死的概率逐年增加,骨坏死早期症状不明显,预后较差,须早期行手术治疗。HIV阳性患者发生骨坏死的因素主要包括传统因素和HIV相关因素。本文结合1例HIV阳性患者合并多发骨坏死的诊疗情况并回顾相关文献,探讨其病因及相关治疗。     

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.     

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.     

Novel WTX nonsense mutation in a family diagnosed with osteopathia striata with cranial sclerosis: Case report

Rationale: Osteopathia striata with cranial sclerosis is characterized by linear striations in the metaphysis of the long bones and pelvis with cranial sclerosis. It is an X-linked dominant sclerosing bone dysplasia and affected males show fetal or neonatal lethality. Mutations in the gene encoding Wilms tumor on the X chromosome (WTX) was identified as the cause of X-linked osteopathia striata with cranial sclerosis. About 30 pathogenic mutations in WTX have been reported recently. We have identified a novel nonsense mutation in the family diagnosed as osteopathia striata with cranial sclerosis.Patient concerns:The proband came to our attention at age 9 for the evaluation of toe-out gait and planovalgus deformity. Clinically, the proband showed coarse facial features including frontal bossing, ocular hypertelorism, wide depressed nasal bridge, dental malocclusion, mild macrocephaly and low set ears. Radiologically, sclerotic linear striations were seen in the X-rays of the pelvis and the metaphyseal region of femur and tibia and the cranial sclerosis was observed. The proband''s mother presented similar facial features and the X-rays of the pelvis, femur, and tibia revealed same sclerotic linear striations as the proband''s.Diagnoses:Osteopathia striata with cranial sclerosis.Interventions:A genetic analysis was conducted on genomic DNA isolated from peripheral blood leukocytes of the proband and the mother for confirming the clinical suspicion of osteopathia striata with cranial sclerosis. WTX on Xq11.2 gene was analyzed in direct sequencing for coding exons including intron-exon boundaries.Outcomes:One novel nonsense mutation (c.1003C>T, p.Gln335^∗) and known single nucleotide variant were observed in a heterozygous form.Lessons:We found a novel nonsense mutation in a family diagnosed as osteopathia striata with cranial sclerosis. The relationship between various clinical features and genetic mutations can be clarified by accumulation of genetic database.     

A fibromyalgia patient with traumatic cerebrospinal fluid leak: a case report

We present a fibromyalgia patient with traumatic cerebrospinal fluid (CSF) leak. A woman was referred because of widespread pain, general fatigue, dizziness, nausea, vomiting, and deterioration of memory after a traffic accident. These signs and symptoms in a sitting or standing position were more deteriorated than in a recumbent position. Although she was diagnosed with fibromyalgia, her widespread pain was unusually severe. She was diagnosed with traumatic CSF leak based on radioisotope cisternography. Her widespread pain was slightly decreased after epidural blood patches, but the nausea completely disappeared and dizziness was eased. A second radioisotope cisternography revealed that the leak of cerebrospinal fluid was discontinued. CSF leak is characterized by headache, nausea, dizziness, and visual impairment. The symptoms and signs resemble Barre-Lieou syndrome. Another characteristic is that these symptoms and signs in a sitting or standing position are more deteriorated than in a recumbent position. Fibromyalgia after trauma is sometimes comorbid with traumatic CSF leak. Radioisotope cisternography is essential for diagnosis. It demonstrates direct findings such as radioisotope leak into the spinal epidural space and indirect findings such as early bladder filling and/or the rapid disappearance of radioisotopes from the CSF space. A beneficial treatment is an epidural blood patch. Patients with fibromyalgia and traumatic CSF leak are likely to suffer more severe signs and symptoms such as increased widespread pain than patients with fibromyalgia alone. Patients with fibromyalgia and traumatic CSF leak are often refractory to treatment.     

Sjogren's syndrome in a patient with ulcerative colitis and primary sclerosing cholangitis: Case report and review of the literature

Inflammatory bowel disease has been reported to co-exist with other autoimmune diseases. Sjogren's syndrome is an autoimmune disorder characterized by xerostomy and/or xerophthalmy. Sjogren's syndrome occurring in IBD has been very rarely reported.A 45-year old woman diagnosed ten years ago with ulcerative pancolitis and primary sclerosing cholangitis was referred to our outpatient IBD clinic because of xerostomy but not for xerophthalmy for the previous three months. The patient had been under azathioprine maintenance treatment (2 mg/kg) and achieved long-term disease remission for the past 4 years. Patient clinical examination and laboratory tests were unremarkable. Salivary gland biopsy and complete ophthalmologic investigation were performed and the patient was diagnosed with Sjogren's syndrome.Understanding sicca manifestations in IBD is difficult since the pathogenesis of this intestinal disorder is not yet clear. Of these complex autoimmune phenomena which occur along with IBD it is quite difficult to categorize concomitant Sjogren's syndrome as primary or secondary and literature is conflicting. The possibility of Sjogren's syndrome should always be considered and properly investigated in patients diagnosed with inflammatory bowel disease who develop a constellation of constitutional sicca symptoms.     

Sclerosing encapsulating peritonitis in a liver transplant patient： A case report

We report a patient with HBV-related hepatocellular carcinoma (HCC) and refractory ascites who had received a peritoneal-venous shunt (PVS) 1 year before liver transplantation. Urgent surgical intervention following bowel obstruction and failure of immunosuppression therapy. No intestinal obstruction was found during an initial PVS. However, intestinal obstruction developed 2 wk after liver transplantation; and a cocoon abdomen was found upon exploration. This is the first reported case of cocoon abdomen caused by PVS and exacerbated by liver transplantation.     

Total knee arthroplasty for massive joint destruction in a patient with rheumatoid arthritis complicated with fibrous dysplasia

Abstract

We report the case of a patient requiring total knee arthroplasty (TKA) due to massive knee bone deformities caused by rheumatoid arthritis (RA) complicated with polyostotic fibrous dysplasia. Reconstruction of the knee with large osseous defect was achieved with conventional TKA by impaction bone grafting. Benign tumor-like conditions such as fibrous dysplasia may be treated with conventional TKA instead of endoprosthesis, custom-made knee prosthesis, or osteoarticular allografting.     

Total knee arthroplasty for massive joint destruction in a patient with rheumatoid arthritis complicated with fibrous dysplasia

We report the case of a patient requiring total knee arthroplasty (TKA) due to massive knee bone deformities caused by rheumatoid arthritis (RA) complicated with polyostotic fibrous dysplasia. Reconstruction of the knee with large osseous defect was achieved with conventional TKA by impaction bone grafting. Benign tumor-like conditions such as fibrous dysplasia may be treated with conventional TKA instead of endoprosthesis, custom-made knee prosthesis, or osteoarticular allografting.     

Case report of a focal nodular hyperplasia-like nodule present in cirrhotic liver

An 81-year-old female was referred to Sapporo Medical University Hospital because of a nodular lesion 20 mm in diameter found in the liver S8 during follow-up for type C liver cirrhosis. Abdominal ultrasonography showed a capsule-like structure, and contrast computed tomography revealed hypervascularity at the early phase and inner pooling of the contrast medium with ring enhancement at the late phase. Magnetic resonance T2-weighted imaging (T2WI) demonstrated a hyperintensity nodule with further hyperintensity signals in some parts of the nodule, and the signal pattern differed from that of typical fibrosis. SPIO-magnetic resonance imaging showed partial hypointensity signals by T2WI, which indicated the presence of Kupffer cells. Angiography did not show a spoke-wheel pattern. The results by imaging modalities indicated that the nodule was atypical for hepatocellular carcinoma (HCC) and focal nodular hyperplasia (FNH), and liver nodule biopsy was performed for histological diagnosis. Compared with the background liver, the nodule revealed high cellular density, cellular dysplasia at the periphery, a pseudo-crypt structure and irregular hepatic cord arrangement in some parts of the nodule. Among them, there was immature fibrous tissue containing arterioles with muscular hypertrophy. There has been no report of well-differentiated HCC with a central scar, and this case was presumed to be an FNH-like nodule with dysplasia physically associated with cirrhotic tissue.     

Post-traumatic fibromyalgia: A case report narrated by the patient

This report describes a case of fibromyalgia developing following a workplace injury, but in which the issues of compensation and work disability were not relevant. A previously healthy 37-year-old woman developed back and groin pain after lifting a heavy box. Over the next months, pain and allodynia gradually spread over her body, and headaches, sleep disturbance, paresthesias, and bowel symptoms developed for the first time. The pain was constant and severe, invading and interfering with every area of daily function. Surprisingly, no previous case reports or definition of post-traumatic fibromyalgia could be found. This case report, narrated by the patient, suggests that there is such an entity as post-traumatic fibromyalgia, and that central nervous system plasticity plays a central role.