VEXAS syndrome diagnosis starting from ultrasound findings: a case report.

VEXAS syndrome is a recently described condition characterized by systemic inflammation, predisposition to hematologic malignancy and a high rate of venous thrombosis. Here we report the case of an elderly male with erythema nodosumlike lesions, ankle arthralgia, and general symptoms. B-mode and Doppler ultrasound of the subcutis diagnosed superficial thrombophlebitis of the lower limbs, which turned out to be the manifestation of a paucisymptomatic VEXAS syndrome. VEXAS should be considered in any patient who presents with unexplained superficial thrombophlebitis, macrocytic anemia and unexplained systemic inflammation.

Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants?

Hughes-Stovin syndrome is a rare disease characterized by thrombophlebitis and multiple pulmonary and/or bronchial aneurysms. The etiology and pathogenesis of HSS are incompletely known. The current consensus is that vasculitis underlies the pathogenic process, and pulmonary thrombosis follows arterial wall inflammation. As such, Hughes-Stovin syndrome may belong to the vascular cluster with lung involvement of Behçet syndrome, although oral aphtae, arthritis, and uveitis are rarely found. Behçet syndrome is a multifactorial polygenic disease with genetic, epigenetic, environmental, and mostly immunological contributors. The different Behçet syndrome phenotypes are presumably based upon different genetic determinants involving more than one pathogenic pathway. Hughes-Stovin syndrome may have common pathways with fibromuscular dysplasias and other diseases evolving with vascular aneurysms. We describe a Hughes-Stovin syndrome case fulfilling the Behçet syndrome criteria. A MYLK variant of unknown significance was detected, along with other heterozygous mutations in genes that may impact angiogenesis pathways. We discuss the possible involvement of these genetic findings, as well as other potential common determinants of Behçet/Hughes-Stovin syndrome and aneurysms in vascular Behçet syndrome. Recent advances in diagnostic techniques, including genetic testing, could help diagnose a specific Behçet syndrome subtype and other associated conditions to personalize the disease management.

Posttraumatic hip bulging mimicking an abscess in a patient with hip prosthesis: the role of ultrasonography.

A 48-yr old female patient, with stage 4 rheumatoid arthritis, who had undergone multiple joint prostheses including four arthroplasties of the left hip, presented for a sudden-onset large bulge on the left thigh, after a minor local injury. Orthopedic examination and radiography excluded fractures. Ultrasonography revealed a large mixed hypo- and hyperechoic collection,with no Doppler signal, but with comet tail artifacts. Repeated cultures from the collection were negative. Fluid analysis revealed increased quantities of titanium and cobalt. The sudden-onset deformity and fluid collection were in favor of a shear lesion (Morel-Lavallée). The new collection communicated with a previously asymptomatic periprosthetic aseptic abscess, mimicking an infection. To our knowledge, Morel-Lavallée shear lesions have not been described in patients with hip prostheses. Their presence may add to the difficulties of ruling out silent infections in such patients. Ultrasonography is a very effective method for the diagnosis and follow-up of collections in this setting.

Clinical and ultrasound findings in patients with calcium pyrophosphate dihydrate deposition disease.

AIM: To evaluate the presence and distribution of calcium pyrophosphate (CPP) deposits in joints commonly affected by CPP deposition (CPPD) disease (acromio-clavicular, gleno-humeral, wrists, hips, knees, ankles, and symphysis pubis joints) using ultrasound (US). MATERIAL AND METHODS: Thirty consecutive patients fulfilling McCarty diagnostic criteria for CPPD were consecutively enrolled in the study. The data registered using the US included the affected joints, the calcification site, and the pattern of calcification (thin hyperechoic bands, parallel to the surface of the hyaline cartilage, hyperechoic spots, and hyperechoic nodular or oval deposits). The presence of CPP crystals in knees was confirmed by polarized light microscopy examination of the synovial fluid and radiographs of the knees were performed in all patients. RESULTS: In 30 patients, 390 joints were scanned, (13 joints in every patient). The mean±standard deviation number of joints with US CPPD evidence per patient was 2.93±1.8 (range 1-9). The knee was the most common joint involved both clinically and using US examination. The second US pattern (with hyperechoic spots) was the most frequent. Fibrocartilage calcifications were more common than hyaline calcification. Using radiography as reference method, the sensitivity and specificity of US for diagnosis CPPD in knees was 79.31%, 95CI(66.65%-88.83%), and 14.29%, 95CI(1.78%-42.81%), respectively. CONCLUSIONS: The knee is the most frequent joint affected by CPPD. The second ultrasound pattern is the most common. CPPD affects the fibrocartilage to a greater extent than the hyaline cartilage.

Redundant plantar skin folds.

A 46-year-old female patient presented with photosensitivity, symmetric arthritis, episodic plantar pain and strikingly redundant plantar skin folds, likely due to lipoatrophy after recurrent episodes of plantar panniculitis. In this context, leukopenia with lymphopenia, thrombocytopenia and positive antinuclear antibodies were revelatory for systemic lupus erythematosus. However, a small cerebriform plantar collagenoma, along with discrete dysmorphic features with downslanting palpebral fissures and mild right ptosis, second and third syndactyly and a larger first right toe since childhood, and early-onset bilateral ovarian cystadenoma, suggested a minimal Proteus syndrome. Genetic confirmation could not be performed. As adipose tissue dysregulation may be a feature of Proteus syndrome, the possible mechanisms leading to localized lipoatrophy in this setting are discussed. This case enlights intriguing links between adipogenesis, inflammation and dysmorphology. From a practical point of view, finding and treating an over-imposed inflammation could help limit damage in a hamartomatous syndrome.

Elevated Serum Levels of Sclerostin are Associated with High Disease Activity and Functional Impairment in Patients with Axial Spondyloarthritis.

BACKGROUND: Recent research suggests that biomarkers may be useful in assessing disease activity, structural damage, and response to therapy in axial spondyloarthritis (axSpA). Our study aims at evaluating the relationship between inflammation and bone remodeling markers and variables assessing disease activity and functional disability in patients with axSpA. METHODS: Serum levels of sclerostin, matrix metalloproteinase-3 (MMP-3), interleukin-17 (IL-17), and IL-23 were measured in 60 patients with axSpA and 20 healthy controls. Disease activity was evaluated using Bath Ankylosing Spondylitis Disease Activity Index (BASDAI), Ankylosing Spondylitis Disease Activity Score (ASDAS), C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR). Functional status was assessed by Bath Ankylosing Spondylitis Function Index (BASFI) and measures of spinal mobility. RESULTS: Sclerostin levels were more elevated in axSpA patients with high disease activity than in those with low disease activity and in controls. They were significantly correlated with BASFI values (r = 0.29, p = 0.03) and measures of spinal mobility, but not with the classical markers of disease activity (BASDAI, ASDAS, CRP, and ESR). Although both MMP-3 and IL-17 levels were elevated in patients with active disease, they were not correlated with markers of disease activity or with functional disability. The levels of sclerostin, MMP-3, IL-17, and IL-23 were similar in axSpA patients and healthy controls. CONCLUSIONS: Elevated levels of sclerostin, MMP-3, and IL-17 were observed in axSpA patients with active disease, suggesting their potential role in assessing disease activity. In axSpA patients, sclerostin levels might be equally influenced by inflammation and level of physical activity. Further studies are required to confirm our findings in order to understand their clinical value.

Unilateral temporal myositis heralding polymyositis: ultrasonographic and elastographic findings. Case report.

Temporal myositis is a rare inflammatory disease of the temporal muscle. We report a case of unilateral temporal myositis, in which a polymyositis was diagnosed two years thereafter. Although focal myositis may rarely herald polymyositis, isolated temporal myositis preceding inflammatory myopathies has not been described, to our knowledge. In the setting of a temporal pain and swelling, ultrasonography may help in diagnosis, biopsy guidance, disease extension, and progression assessment. Further studies are necessary to establish the role of elastography in differentiating between muscle inflammation and hypertrophy.

Bone mineral density, vertebral fractures and body mass index in postmenopausal women with abdominal aortic calcification.

BACKGROUND: Evidence suggest that there are connections between osteoporosis and cardiovascular diseases. OBJECTIVES: The aim of the study was to analyze the relationship between radiological measurements of abdominal aorta calcifications (AAC) and bone mineral density (BMD) in postmenopausal women. METHODS: In this cross-sectional study were included 125 postmenopausal women 50-84 years of age. BMD of the spine and hip was measured by dual energy X-ray absorptiometry (DXA). AAC were assessed by lateral radiographs of lumbar spine (L1-L4), using the antero-posterior severity score (0-24). Vertebral fractures were evaluated from T4 to L4 using Genant's semiquantitative method. RESULTS: Forty-one (32.8%) patients had osteoporosis and 61 (48.8%) had AAC with a mean score of 3.1. Postmenopausal women with AAC were older and had significantly lower femoral neck and trochanteric BMD than subjects without AAC (all p < 0.01). There were no significant differences in the frequency of fractures between subjects with AAC and those without AAC (p > 0.05). In univariate analysis, age, height, weight, femoral and trochanter BMD were significantly associated with the severity of AAC score. In multiple regression analysis, femoral neck BMD, but not lumbar spine, trochanter BMD or age, was an independent predictor of AAC. CONCLUSIONS: Reduced femoral neck BMD is negatively associated with the presence of AAC in postmenopausal women. The association between BMD and AAC seems to be age-independent, which suggests a common pathogenesis for bone loss and vascular calcifications.

The value of osteopontin in the assessment of bone mineral density status in postmenopausal women.

BACKGROUND: Osteopontin (OPN) has been implicated in bone remodeling by activating the resorption process. We aimed to study the relationship between OPN, bone mineral density (BMD), bone turnover markers, vitamin D, and osteoporotic vertebral fractures in postmenopausal women. MATERIALS AND METHODS: Serum levels of OPN, osteocalcin, collagen type 1 cross-linked C-telopeptide (CTX), bone alkaline phosphatase, and vitamin D were assessed in 214 postmenopausal women. Bone mineral density was assessed by dual-energy x-ray absorptiometry in lumbar spine and femoral neck, and osteoporotic vertebral fractures by radiographs. RESULTS: Osteopontin levels were significantly higher in osteoporosis group versus osteopenic and normal group (all P < 0.05). The cutoff values of OPN for osteoporosis diagnosis were of 9.47 µg/L at the lumbar spine (area under the curve, 0.67; 95% confidence interval, 0.58-0.75; P < 0.001) and 10.15 µg/L at the femoral neck (area under the curve, 0.69; 95% confidence interval, 0.624-0.77; P = 0.0001), respectively. Postmenopausal women with osteoporosis-related vertebral fractures had significantly higher levels of OPN than those without vertebral fractures (15.69 ± 13.26 vs 12.63 ± 12.46 µg/L; P = 0.02). Significant negative correlations were found between OPN and BMD, which persisted after the adjustment for age at the lumbar spine. Osteopontin levels were directly correlated with bone turnover markers (osteocalcin, bone alkaline phosphatase, and CTX). No significant correlation was found between OPN and vitamin D. Multiple regression analysis showed that age, waist circumference, and CTX were independent predictors of serum OPN levels. CONCLUSIONS: High levels of OPN in postmenopausal women are associated with low BMD, increased levels of bone turnover markers, and osteoporotic vertebral fractures. These findings suggest that OPN might play some role in the pathophysiology of postmenopausal osteoporosis and warrant further clinical investigations.

A rare case of primary tuberculous pyomyositis. Case report.

Tuberculosis involving the soft tissue as extending from adjacent bone or joint is well recognized. However, the primary tuberculous pyomyositis is rare. Due to atypical presentation the diagnosis is often delayed. We report one case of primary tuberculous pyomyositis of the thigh in an immunocompromised patient. Tuberculous myositis should be suspicioned, in immunocompromised patients with unexplained soft tissue swelling, especially in endemic area.

Relation between intima-media thickness and bone mineral density in postmenopausal women: a cross-sectional study.

CONTEXT AND OBJECTIVES: Controversy exists regarding the relationship between atherosclerosis and osteoporosis. The aim of this study was to determine the relationship between intima-media thickness (IMT) of the common carotid artery (CCA), presence of calcified atherosclerotic plaques and bone mineral density (BMD) evaluated by dual energy X-ray absorptiometry (DXA), in postmenopausal women. DESIGN AND SETTING: Cross-sectional study at Second Internal Medicine Clinic, Cluj-Napoca, Romania. METHODS: We studied the IMT (left and right CCA and mean IMT) and T-score (lumbar spine L2-L4, femoral neck and total hip) in 100 postmenopausal women (mean age 64.5 years). The presence of calcified atherosclerotic plaque and osteoporotic vertebral fractures was also noted. RESULTS: IMT in the left and right CCA and mean IMT were significantly associated with T-score measured for the lumbar spine L2-L4, femoral neck and total hip, with lower T-score, in the osteoporotic group than in the normal and osteopenic groups (P < 0.05). IMT had a significantly negative correlation with the lumbar spine T-score and femoral neck T-score; and mean IMT with lowest T-score. Mean IMT (P < 0.001), high blood pressure (P = 0.005) and osteoporotic vertebral fractures (P = 0.048) showed statistical significance regarding the likelihood of developing atherosclerotic plaque. CONCLUSIONS: In women referred for routine osteoporosis screening, the relationship between CCA, atherosclerosis and osteoporosis can be demonstrated using either cortical or trabecular BMD. Vertebral fractures may be considered to be a likelihood factor for atherosclerotic plaque development.

Relation between intima-media thickness and bone mineral density in postmenopausal women: a cross-sectional study / La relación entre el espesor mío-intimal y la densidad mineral ósea en las mujeres posmenopáusicas: un estudio transversal

CONTEXT AND OBJECTIVES: Controversy exists regarding the relationship between atherosclerosis and osteoporosis. The aim of this study was to determine the relationship between intima-media thickness (IMT) of the common carotid artery (CCA), presence of calcified atherosclerotic plaques and bone mineral density (BMD) evaluated by dual energy X-ray absorptiometry (DXA), in postmenopausal women. DESIGN AND SETTING: Cross-sectional study at Second Internal Medicine Clinic, Cluj-Napoca, Romania. METHODS: We studied the IMT (left and right CCA and mean IMT) and T-score (lumbar spine L2-L4, femoral neck and total hip) in 100 postmenopausal women (mean age 64.5 years). The presence of calcified atherosclerotic plaque and osteoporotic vertebral fractures was also noted. RESULTS: IMT in the left and right CCA and mean IMT were significantly associated with T-score measured for the lumbar spine L2-L4, femoral neck and total hip, with lower T-score, in the osteoporotic group than in the normal and osteopenic groups (P < 0.05). IMT had a significantly negative correlation with the lumbar spine T-score and femoral neck T-score; and mean IMT with lowest T-score. Mean IMT (P < 0.001), high blood pressure (P = 0.005) and osteoporotic vertebral fractures (P = 0.048) showed statistical significance regarding the likelihood of developing atherosclerotic plaque. CONCLUSIONS: In women referred for routine osteoporosis screening, the relationship between CCA, atherosclerosis and osteoporosis can be demonstrated using either cortical or trabecular BMD. Vertebral fractures may be considered to be a likelihood factor for atherosclerotic plaque development.

CONTEXTO Y OBJETIVOS: Hay controversias en cuanto a la relación entre la arterioesclerosis y la osteoporosis. El objetivo del estudio fue determinar la relación entre el espesor mío-intimal (EMI) de la arteria carótida común (ACC), la presencia de placas arterioescleróticas calcificadas, y la densidad mineral ósea (DMO) evaluada a través de absorciometría de rayos X de energía dual (DEXA) en mujeres posmenopáusicas. DISEÑO Y ENTORNO: Estudio transversal en la Segunda Clínica de Medicina Interna, Cluj-Napoca, Rumania. MÉTODOS: Hemos estudiado el EMI (ACC izquierda y derecha y EMI promedio) y el T-score (espina lumbar L2-L4, cuello femoral y cadera total) en 100 mujeres posmenopáusicas (edad promedia 64.5 años). Se ha observado también la presencia de las placas arterioescleróticas calcificadas y de la fractura vertebral osteoporótica. RESULTADOS: El EMI en ACC izquierda y derecha, como también el EMI promedio se ha asociado sobre todo con el T-score medido en la espina lumbar L2-L4, cuello femoral y cadera total o el valor más bajo del T-score, en el grupo osteoporótico, en comparación con el grupo normal y el osteopénico (P < 0.05). Se ha registrado una correlación significativamente negativa entre el EMI y el T-score de espina lumbar, el T-score del cuello femoral, y el EMI promedio con el T-score más bajo. El EMI promedio (P < 0.001), la alta presión (P = 0.005), y las fracturas vertebrales osteoporóticas (P = 0.048) demostraron tener una importancia estadística con respecto a la probabilidad de formación de placas arterioescleróticas. CONCLUSIONES: En el caso de las mujeres sometidas a screening rutinario para la osteoporosis, la relación entre ACC, arterioesclerosis y osteoporosis se puede demostrar utilizando sea la DMO cortical o trabecular. Las fracturas vertebrales se pueden considerar como un factor de probabilidad para el desarrollo de las placas arterioescleróticas.

Relative value of the lumbar spine and hip bone mineral density and bone turnover markers in men with ankylosing spondylitis.

The purpose of this study is to evaluate bone mineral density (BMD) and bone turnover markers in men with ankylosing spondylitis (AS) and to determine their relationship with clinical features and disease activity. Serum carboxi terminal cross-linked telopeptide of type I collagen (CTX), osteocalcin (OC) levels, and BMD of lumbar spine and proximal femur were evaluated in 44 males with AS, 18-60 years of age, and compared with those of 39 age-matched healthy men. Men with AS had a significantly lower BMD at the femoral neck and total hip as compared to age-matched controls (all p < 0.01). Osteopaenia or osteoporosis was found in 59.5% AS patients at the lumbar spine and in 47.7% at the femoral neck. Mean serum levels of OC and CTX were similar in AS patients and controls. There were no significant differences in BMD and bone turnover markers when comparing subgroups stratified according to disease duration or presence of peripheral arthritis. No correlations were found between disease activity markers and BMD or OC and CTX. In a cohort of relatively young males with AS, we found a high incidence of osteopaenia and osteoporosis. Disease activity and duration did not show any significant influence on BMD or serum levels of OC and CTX.