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Sample records for calcinosis

  1. Dermatomyositis with Calcinosis Cutis Universalis

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    S L Wadhwa

    1981-01-01

    Full Text Available An eleven year old child with dermatomyositis and calcinosis cutis universalis is presented. She showed heliotrope bloating of eyelids, Gottrons sign, proximal muscle wasting with contractures and extensive areas of calcification over the shoulder, pelvic girdles and proximal extremities. The dignosis was confirmed by biochemical and histopatholo "cal studies as 91 well as electromyography. High doses of steroids and supportive measures made the patient ambulatory.

  2. Tumoral calcinosis with vitamin D deficiency

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    Kannan Subramanian

    2008-01-01

    Full Text Available A 50-year-old woman presented with recurrent calcified mass in the left gluteal region. The clinical, radiological, and biochemical profile confirmed the diagnosis of tumoral calcinosis. She also had associated vitamin D deficiency. The patient underwent surgical removal of the mass to relieve the sciatic nerve compression and was managed with acetazolamide, calcium carbonate, and aluminium hydroxide gel with which she showed significant improve-ment. The management implications and effect of vitamin D deficiency on phosphate metabolism in the setting of tumoral calcinosis is discussed.

  3. MDCT imaging of calcinosis in systemic sclerosis

    International Nuclear Information System (INIS)

    Freire, V.; Becce, F.; Feydy, A.; Guérini, H.; Campagna, R.; Allanore, Y.; Drapé, J.-L.

    2013-01-01

    Calcinosis is a typical feature of systemic sclerosis (SSc) and can be found in many different tissues including the superficial soft tissues, periarticular structures, muscles, and tendons. It can also provoke erosive changes on bones. Investigation is conducted most often with plain radiographs. However, when a more detailed assessment is necessary, multidetector computed tomography (MDCT) is helpful owing to its multiplanar reformat (MPR) ability. The purpose of this review is to provide an overview of the various appearances of calcinosis in SSc patients as visualized at MDCT

  4. Severe calcinosis cutis in an infant

    International Nuclear Information System (INIS)

    Puvabanditsin, Surasak; Patel, Jigneshkumar B.; Garrow, Eugene; Titapiwatanakun, Ruetima; Getachew, Rahel

    2005-01-01

    We report on an infant with severe asphyxia and persistent pulmonary hypertension as a newborn. The baby received prolonged intravenous calcium gluconate therapy for hypocalcemia. At 5 weeks of age, multiple firm, indurated areas (armor-like lesions) were palpable in the subcutaneous tissues of the trunk, arms, legs, and face, particularly in skin folds. Roentgenographic study showed generalized soft-tissue calcifications throughout the body, extremities, and face. Calcinosis cutis occurs through a variety of pathogenetic mechanisms. Case reports on calcinosis cutis in infants are uncommon, and the calcifications are mostly localized. In our patient, they are generalized. (orig.)

  5. Multimodality Imaging of Calcinosis of Chronic Renal Failure

    OpenAIRE

    Loya, Raul; Beavers, Kimberly; Scherer, Kurt

    2017-01-01

    Secondary tumoral calcinosis (STC) refers to periarticular calcified masses associated with an identifiable condition. The most common of these identifiable conditions is a chronic renal failure. We present a unique case in which massive periarticular masses in a patient with calcinosis of chronic renal failure (CCRF) are demonstrated in the shoulder and hip on sonography, radiography and computed tomography (CT).

  6. Tumoral calcinosis, calciphylaxis, hyperparathyroidism and tuberculosis in a dialysis patient

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    Khawla Kammoun

    2011-01-01

    Full Text Available Tumoral calcinosis and calciphylaxis are uncommon but severe complications in ure-mic patients. They occur generally after long-term hemodialysis (HD treatment explained by ad-vanced secondary hyperparathyroidism and longstanding high calcium phosphorus product (Ca × P. Other factors such granulomatous diseases may worsen the calcium phosphate homeostasis alterations. We report a young male patient treated by HD for 6 years who developed tuberculosis in addition to tumoral calcinosis and calciphylaxis.

  7. The diagnosis of pulmonary calcinosis by scintigraphy

    International Nuclear Information System (INIS)

    Schlangen, J.T.; Pauwels, E.K.J.

    1976-01-01

    Three patients are described who were examined with the bone-seeking substance sup(99m)Tc-E.H.D.P. The abnormalities discovered were ascribed to metastatic calcification in the lungs. The patiens suffered from three quite different conditions, but in each there was hypercalcaemia. One patient had chronic renal insufficiency with secondary hyperparathyroidism, in the other cases the cause of the hypercalcaemia could not be determined. In one patient, it was possible to confirm the diagnosis of pulmonary calcinosis histologically. Previously published cases indicate that it is possible to demonstrate lung calcification by using Tc-phosphate compounds, particularly sup(99m)Tc-E.H.D.P. This is important, since it is often not possible to demonstrate it radiologically. It further demonstrates that the accumulation of sup(99m)Tc-E.H.D.P. is dependent on active bone metabolism. (orig.) [de

  8. Pulmonary dystrophic Calcinosis associated to systemic sclerosis: Report of the first case in Colombia

    International Nuclear Information System (INIS)

    Mendez Patarroyo, Paul; Rojas, Adriana; Restrepo Suarez, Jose Felix; Iglesias Gamarra, Antonio

    2002-01-01

    The association of pulmonary calcinosis with systemic sclerosis has not been described in the medical literature. There are two type of lung calcification: dystrophic and metastatic; in the collagen vascular diseases the most frequent is the dystrophic calcinosis, seen mainly in dermatomyositis and scleroderma. We describe the first case of dystrophic calcinosis associated with systemic sclerosis

  9. Avid 18F-FDG Uptake in Idiopathic Tumoral Calcinosis Mimicking Lymph Node Metastasis

    DEFF Research Database (Denmark)

    Strandberg, Jesper; Zacho, Helle D

    2017-01-01

    Tumoral calcinosis is a benign condition characterized by periarticular calcified lesions that is frequently observed in patients with chronic renal failure. Tumoral calcinosis often presents with subcutaneous masses and joint swelling. We present a case of tumoral calcinosis with dramatically in...

  10. Multifocal tumoral calcinosis in a 4-year-old girl

    Science.gov (United States)

    Sayar, Ilyas; Peker, Kemal; Kapısız, Alparslan; Bostancı, Isıl Esen; Gürbüzel, Mehmet; Isik, Arda; Peker, Necla Aydın

    2014-01-01

    Patient: Female, 4 Final Diagnosis: Tumoral calcinosis Symptoms: Hard immobile mass Medication: — Clinical Procedure: — Specialty: Surgery Objective: Congenital defects Background: Tumoral calcinosis is an uncommon condition associated with the deposition of painless calcific masses. It is more common in childhood or early adolescence of African-American females. Case Report: We present a case of a 4-year-old girl with tumoral calcinosis treated surgically. The case is rather rare in terms of the age of the patient and the localization of the masses (gluteal site). In our patient, the biochemical findings were normal, except for hyperphosphatemia and elevated alkaline phosphatase. Conclusions: Total excision appears to lead to a good clinical outcome and a low incidence of local relapse. PMID:24644527

  11. Tumoral calcinosis-like lesion of the proximal linea aspera

    International Nuclear Information System (INIS)

    Seeger, L.L.; Butler, D.L.; Eckardt, J.J.; Layfield, L.; Adams, J.S.

    1990-01-01

    Tumoral calcinosis is presently a poorly defined disease. In its classic form, it consists of multiple large foci of benign mineralization in the soft tissue adjacent to bone near large joints. Patients are generally of African descent and are adolescents or young adults at presentation. Both metabolic and traumatic etiologies have been proposed. We report six adult Caucasian patients with lesions that pathologically resembled tumoral calcinosis. All lesions were small (less than 3x3 cm) and were located along the proximal linea aspera lof the femur. All patients presented with pain. Because of the atypical patient population and the unusual size and location of the lesions, we refer to this process as a 'tumoral calcinosis-like lesion'. A typical radiographic appearance and location, together with appropriate clinical history, can strongly suggest this diagnosis. (orig.)

  12. Calcinosis en Esclerosis Sistémica

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    Tamara Caínzos Romero

    2014-12-01

    Full Text Available Paciente de 85 años diagnosticada de esclerosis sistémica con esclerodermia limitada de años de evolución con ANA positivos a título de 1:5120 patrón anticentrómero, antiScl-70 y anti-Jo negativos. Sus principales manifestaciones clínicas son: Raynaud grave y úlceras digitales a tratamiento con nifedipino y bosentán, hipertensión pulmonar leve, esclerodactilia y calcificación extensa de tejidos blandos en ambas manos, 4º dedo de mano derecha y 4º-5º dedos de mano izquierda, con deformidades en flexión bilaterales, que pueden observarse en estudios de radiografía simple de ambas manos. La calcinosis resulta del depósito de cristales de hidroxiapatita de calcio fundamentalmente. Aunque los resultados son, en general malos, se han utilizado diltiazem, colchicina y los AINES en los casos que se produce una reacción inflamatoria similar a la pseudogota, en los casos más graves es necesario recurrir a la cirugía.

  13. Calcinosis cutis behandlet med ekstrakorporal shockbølgeterapi

    DEFF Research Database (Denmark)

    Jeppesen, Sune Møller; Yderstræde, Knud Bonnet; Lund, Lars

    2015-01-01

    Calcinosis cutis is a rare disease entity characterized by deposits of calcium in the skin and subcutaneous tissue causing hard-to-heal ulcers. This is a case report on a patient with femoral ulcers in connection with densely mineralized skin caused by ketobemidon injections. Next to surgical...

  14. Familial tumoral calcinosis in two Chinese patients: a case series

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    Cheng Xiaoli

    2011-08-01

    Full Text Available Abstract Introduction Tumoral calcinosis is a rare and benign condition characterized by massive subcutaneous soft tissue deposits of calcium phosphate predominantly around large joints. Case presentation Familial tumoral calcinosis was present in two members of a Han Chinese family, namely, the son and daughter. The 14-year-old son had the first operation on his right sole of the foot at the age of six, and then experienced subsequent surgeries at a lesion in his right sole of the foot and left hip, respectively. The 16-year-old daughter underwent her first operation at the age of six in her left gluteal region, and subsequent surgeries were performed due to recurrence at the same lesion. Pathologic diagnoses of surgical specimens in both of the patients were reported as tumoral calcinosis. The laboratory results showed hyperphosphatemia with normal levels of serum calcium and alkaline phosphatase. Only surgical treatment was performed in both patients with satisfactory prognosis. Conclusion This is the first report of Chinese familial tumoral calcinosis. The etiopathogenisis and treatment are discussed.

  15. Excessive calcinosis of soft tissue in scleroderma (Teutschlaender syndrome)

    International Nuclear Information System (INIS)

    Eibach, E.

    1983-01-01

    A pathography of a ten year's advancing calcinosis is given. An correct classification according to clear clinical pictures often is not possible. Final diagnosis in this case of a collagenous diesease could be established only by considering subsequent findings during the course of illness. (orig.)

  16. Excessive calcinosis of soft tissue in scleroderma (Teutschlaender syndrome)

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    Eibach, E.

    1983-02-01

    A pathography of a ten year's advancing calcinosis is given. A correct classification according to clear clinical pictures often is not possible. Final diagnosis in this case of a collagenous disease could be established only by considering subsequent findings during the course of illness.

  17. Differential response of idiopathic sporadic tumoral calcinosis to bisphosphonates

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    Karthik Balachandran

    2014-01-01

    Full Text Available Context: Tumoral calcinosis is a disorder of phosphate metabolism characterized by ectopic calcification around major joints. Surgery is the current treatment of choice, but a suboptimal choice in recurrent and multicentric lesions. Aims: To evaluate the efficacy of bisphosphonates for the management of tumoral calcinosis on optimized medical treatment. Settings and Design: The study was done in the endocrine department of a tertiary care hospital in South India. We prospectively studied two patients with recurrent tumoral calcinosis who had failed therapy with phosphate lowering measures. Materials and Methods: After informed consent, we treated both patients with standard age adjusted doses of bisphosphonates for 18 months. The response was assessed by X ray and whole body 99mTc-methylene diphosphonate bone scan at the beginning of therapy and at the end of 1 year. We also estimated serum phosphate levels and urinary phosphate to document serial changes. Results: Two patients (aged 19 and 5 years with recurrent idiopathic hyperphosphatemic tumoral calcinosis, following surgery were studied. Both patients had failed therapy with conventional medical management − low phosphate diet and phosphate binders. They had restriction of joint mobility. Both were given standard doses of oral alendronate and parenteral pamidronate respectively for more than a year, along with phosphate lowering measures. At the end of 1 year, one of the patients had more than 95% and 90% reduction in the size of the lesions in right and left shoulder joints respectively with total improvement in range of motion. In contrast, the other patient (5-year-old had shown no improvement, despite continuing to maintain normophosphatemia following treatment. Conclusions: Bisphosphonate therapy in tumoral calcinosis is associated with lesion resolution and may be used as a viable alternative to surgery, especially in cases with multicentric recurrence or treatment failure to other

  18. Tumoral calcinosis presenting as an extradural mass: MR findings and pathological correlation

    International Nuclear Information System (INIS)

    Iglesias, A.; Arias, M.; Brasa, J.; Gonzalez, A.; Conde, C.

    2002-01-01

    Two cases of idiopathic tumoral calcinosis presenting as an extradural mass are reported. There are few reports in the literature of this pathological process presenting as extradural masses, so both cases represent very unusual locations for tumoral calcinosis. Magnetic resonance imaging features and pathological correlation of these two cases are presented. Tumoral calcinosis might be considered as a rare but possible cause of extradural mass. (orig.)

  19. Tumoral calcinosis presenting as an extradural mass: MR findings and pathological correlation

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    Iglesias, A.; Arias, M.; Brasa, J. [Unidad de Resonancia Magnetica (MEDTEC), Hospital Xeral-Cies, 36204 Vigo (Spain); Gonzalez, A. [Servicio de Anatomia Patologica, Hospital Xeral-Cies, 36204 Vigo (Spain); Conde, C. [Servicio de Neurocirugia, Hospital Xeral-Cies, 36204 Vigo (Spain)

    2002-09-01

    Two cases of idiopathic tumoral calcinosis presenting as an extradural mass are reported. There are few reports in the literature of this pathological process presenting as extradural masses, so both cases represent very unusual locations for tumoral calcinosis. Magnetic resonance imaging features and pathological correlation of these two cases are presented. Tumoral calcinosis might be considered as a rare but possible cause of extradural mass. (orig.)

  20. CREST Calcinosis Affecting the Lumbar and Cervical Spine and the Use of Minimally-Invasive Surgery

    OpenAIRE

    Faraj, Kassem; Perez-Cruet, Kristin; Perez-Cruet, Mick

    2017-01-01

    Calcinosis in CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome can affect the spinal and paraspinal areas. We present the first case to our knowledge where a CREST syndrome patient required surgery for spinal calcinosis in both the cervical and lumbar areas.?A 66-year-old female with a history of CREST syndrome presented with right-sided lower extremity radicular pain. A computed tomography (CT) scan showed bilateral lumbar masses (5...

  1. Radiological features of progressive tumoral calcinosis in chronic renal failure.

    LENUS (Irish Health Repository)

    Hodnett, P

    2012-02-03

    We present the case of a young adult patient with chronic renal failure who developed painful subcutaneous nodules after failed renal transplant and recommencing dialysis. These nodules were juxta-articular in location and initially located over both shoulders. Radiological evaluation suggested tumoral calcinosis. The patient was placed on a strict dialysis and dietary regimen but was suboptimally compliant with same. The patient developed progressive disease with an increase in size and number of juxta-articular calcified soft-tissue masses. However, 6 months following a second renal transplant clinical and radiological follow up demonstrated marked resolution both in symptomatology and radiographic findings. We present the plain radiographic, CT and MRI findings which demonstrate the typical radiological features of tumoral calcinosis. We correlate these findings with clinical course and histological findings following surgical excision of one of these masses.

  2. Tumoral calcinosis in a dog with chronic renal failure

    International Nuclear Information System (INIS)

    Spotswood, T.C.

    2003-01-01

    A 2-year-old male German shepherd dog in poor bodily condition was evaluated for thoracic limb lameness due to a large, firm mass medial to the left cranial scapula. Radiography revealed several large cauliflower-like mineralized masses in the craniomedial left scapula musculature, pectoral region and bilaterally in the biceps tendon sheaths. Urinalysis, haematology and serum biochemistry showed that the dog was severely anaemic, hyperphosphataemic and in chronic renal failure. The dog was euthanased and a full post mortem performed. A diagnosis of chronic renal failure with secondary hyperparathyroidism was confirmed. The mineralised masses were grossly and histopathologically consistent with a diagnosis of tumoral calcinosis. Tumoral calcinosis associated with chronic renal failure that does not involve the foot pads is rarely seen

  3. Calcinosis circumscripta in a captive African cheetah (Acinonyx jubatus

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    Chisoni Mumba

    2014-10-01

    Full Text Available This article reports a first case of calcinosis circumscripta in a captive African cheetah (Acinonyx jubatus. Histopathology demonstrated well defined multiple cystic structures containing granular, dark basophilic materials with peripheral granulomatous reaction, characterized by presence of multinucleated giant cells surrounded by a varying amounts of fibrous connective tissues. Special staining with von Kossa revealed black stained deposits confirming the presence of calcium salts.

  4. Disappearance of diffuse calcinosis following autologous stem cell transplantation in a child with autoimmune disease.

    Science.gov (United States)

    Elhasid, R; Rowe, J M; Berkowitz, D; Ben-Arush, M; Bar-Shalom, R; Brik, R

    2004-06-01

    A 12-year-old girl presented with arthritis, myalgia, anemia and positive ANA. Subsequently, she developed recurrent episodes of pulmonary hemorrhage, thrombocytopenia, CNS abnormalities, skin ulcers and diffuse calcinosis. This was followed by secondary antiphospholipid syndrome. Despite vigorous immunosuppression, the patient became bedridden. A peripheral blood stem cell autograft was offered when she developed pulmonary hypertension and digital ischemia at the age of 16 years. The post-transplantation course was uneventful. Liquefaction of calcinosis nodules with improvement of mobility occurred gradually. She is now 24 months post-transplant with no sign of disease activity and total disappearance of calcinosis nodules.

  5. Milia-like idiopathic calcinosis cutis in a child with Down syndrome.

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    Kumar, Piyush; Savant, Sushil S; Nimisha, Esther; Das, Anupam; Debbarman, Panchami

    2016-05-15

    Idiopathic calcinosis cutis refers to progressive deposition of crystals of calcium phosphate in the skin and other areas of the body, in the absence of any inciting factor. Idiopathic calcinosis cutis may sometimes take the form of small, milia-like lesions. Most commonly, such milia like lesions are seen in the setting of Down syndrome. Herein, we report a 5-year-old girl with multiple asymptomatic discrete milia-like firm papules distributed over the face and extremities. A diagnosis of milia-like idiopathic calcinosis cutis associated with Down Syndrome was provisionally made and was confirmed by histopathology and karyotyping.

  6. Tumoral calcinosis: scintigraphic studies of an affected family

    International Nuclear Information System (INIS)

    Balachandran, S.; Abbud, Y.; Prince, M.J.; Chausmer, A.B.

    1980-01-01

    Tumoral calcinosis is a rare, familial ectopic calcification syndrome associated with hyperphosphataemia. A family in which seven of 13 siblings had demonstrable, clinical, radiological and pathological findings of tumoral calcinosis was evaluated. The purposes were to compare the efficacy of bone scintiscans with serum phosphorus determination in detecting subclinical disease early in asymptomatic siblings and to assess therapeutic results in affected family members following initiation of phosphate depletion therapy. History, physical examination, serum calcium, serum phosphorus and bone scintiscans were performed in 12 of 13 siblings. All the affected siblings had markedly elevated serum phosphorus levels and abnormal bone scintiscans while the unaffected siblings had normal serum phosphorus levels and normal bone scintiscans. All the siblings, affected and unaffected, were normocalcaemic. After initiation of phosphate depletion therapy, gross changes in the appearance of lesions were detected on bone scintiscans. Serum phosphorus levels likewise showed a modest decline, although still remaining in the hyperphosphataemic range. In conclusion, bone scintiscans and serum phosphorus determinations are equally sensitive in detecting subclinical disease. However, the scintiscans are helpful in assessing not only the extent of the disease, but also whole-body and regional changes following any therapeutic interventions. (author)

  7. Peritendinous calcinosis of calcaneus tendon associated with dermatomyositis: correlation between conventional radiograph, ultrasound, magnetic resonance imaging and gross surgical pathology

    International Nuclear Information System (INIS)

    Rosa, Ana Claudia Ferreira; Gomide, Lidyane Marques de Paula; Lemes, Marcella Stival

    2006-01-01

    Interstitial calcinosis is an uncommon condition in which there is either localized or widely disseminated deposition of calcium in the skin, subcutaneous tissues, muscles, and tendons. Calcinosis is often associated with collagen diseases, scleroderma and dermatomyositis. The authors report a case of interstitial calcinosis associated with dermatomyositis studied with conventional radiograph, ultrasound and magnetic resonance imaging, and correlate the imaging findings with the results of surgical pathology gross examination. (author)

  8. Fever as a Presentation of Tumoral Calcinosis: A Case Report

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    Nga V Nguyen

    2018-03-01

    Full Text Available Tumoral calcinosis (TC is a rare condition in which there is periarticular calcium deposition in the soft tissue forming a mass. The most common locations of TC are the larger joints such as the hip, shoulder, and knee, as well as the hands and wrists. Patients will often present with localized swelling, pain, and reduced joint mobility. We will discuss a 48-year-old male on hemodialysis who presented with a fever of unknown source and diffuse joint pain. He was found to have progressive, multiple tumor-like swellings on his shoulders, hands, and knees. He was diagnosed with TC and managed with a high dose phosphate binder with resolution of his fever and improvement in his pain.

  9. Calcinosis is associated with digital ischaemia in systemic sclerosis—a longitudinal study

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    Pope, Janet; Robinson, David; Jones, Niall; Khalidi, Nader; Docherty, Peter; Kaminska, Elzbieta; Masetto, Ariel; Sutton, Evelyn; Mathieu, Jean-Pierre; Ligier, Sophie; Grodzicky, Tamara; LeClercq, Sharon; Thorne, Carter; Gyger, Geneviève; Smith, Douglas; Fortin, Paul R.; Larché, Maggie; Abu-Hakima, Maysan; Rodriguez-Reyna, Tatiana S.; Cabral-Castaneda, Antonio R.; Fritzler, Marvin J.; Wang, Mianbo; Hudson, Marie

    2016-01-01

    Objective. To determine if ischaemia is a causal factor in the development of calcinosis in SSc. Methods. Patients with SSc were assessed yearly. Physicians reported the presence of calcinosis, digital ischaemia (digital ulcers, digital necrosis/gangrene, loss of digital pulp on any digits and/or auto- or surgical digital amputation) and nailfold capillary dropout assessed using a dermatoscope. The number of digits with digital ischaemia was used as an assessment of the severity of digital ischaemia. SSc specific antibodies were detected with a line immunoassay. Multiple logistic regression and Cox proportional hazards models were generated to determine associations between calcinosis, digital ischaemia and capillary dropout. Results. One thousand three hundred and five patients were included in this study, of whom 300 (23.0%) had calcinosis at study entry. In a cross-sectional multivariate analysis, at baseline, calcinosis was associated with digital ischaemia (odds ratio (OR) = 2.37, 95% CI: 1.66, 3.39), severity of ischaemia (OR = 1.12, 95% CI: 1.06, 1.18), capillary dropout (OR = 1.41, 95% CI: 1.05, 1.89), ACAs (OR = 1.68, 95% CI: 1.17, 2.43) and anti-RNA polymerase III antibodies (OR = 1.77, 95% CI: 1.08, 2.89). Current use of calcium channel blockers was inversely associated with the presence of calcinosis (OR = 0.70, 95% CI: 0.52, 0.96). Of the 805 patients with no calcinosis at study entry and at least one follow-up visit, 215 (26.7%) developed calcinosis during follow-up. Significant baseline predictors of the development of calcinosis in follow-up were digital ischaemia (hazard ratio (HR) = 1.82, 95% CI: 1.30, 2.54), capillary dropout (HR = 1.46, 95% CI: 1.08, 1.99), dcSSc (HR = 1.57, 95% CI: 1.11, 2.21), ACA (HR = 2.18, 95% CI: 1.50, 3.17) and anti-RNA polymerase III antibodies (HR = 2.58, 95% CI: 1.65, 4.04). Conclusion. Ischaemia may play a role in the development of calcinosis in SSc. PMID:27593964

  10. Calcinosis is associated with digital ischaemia in systemic sclerosis-a longitudinal study.

    Science.gov (United States)

    Baron, Murray; Pope, Janet; Robinson, David; Jones, Niall; Khalidi, Nader; Docherty, Peter; Kaminska, Elzbieta; Masetto, Ariel; Sutton, Evelyn; Mathieu, Jean-Pierre; Ligier, Sophie; Grodzicky, Tamara; LeClercq, Sharon; Thorne, Carter; Gyger, Geneviève; Smith, Douglas; Fortin, Paul R; Larché, Maggie; Abu-Hakima, Maysan; Rodriguez-Reyna, Tatiana S; Cabral-Castaneda, Antonio R; Fritzler, Marvin J; Wang, Mianbo; Hudson, Marie

    2016-12-01

    To determine if ischaemia is a causal factor in the development of calcinosis in SSc. Patients with SSc were assessed yearly. Physicians reported the presence of calcinosis, digital ischaemia (digital ulcers, digital necrosis/gangrene, loss of digital pulp on any digits and/or auto- or surgical digital amputation) and nailfold capillary dropout assessed using a dermatoscope. The number of digits with digital ischaemia was used as an assessment of the severity of digital ischaemia. SSc specific antibodies were detected with a line immunoassay. Multiple logistic regression and Cox proportional hazards models were generated to determine associations between calcinosis, digital ischaemia and capillary dropout. One thousand three hundred and five patients were included in this study, of whom 300 (23.0%) had calcinosis at study entry. In a cross-sectional multivariate analysis, at baseline, calcinosis was associated with digital ischaemia (odds ratio (OR) = 2.37, 95% CI: 1.66, 3.39), severity of ischaemia (OR = 1.12, 95% CI: 1.06, 1.18), capillary dropout (OR = 1.41, 95% CI: 1.05, 1.89), ACAs (OR = 1.68, 95% CI: 1.17, 2.43) and anti-RNA polymerase III antibodies (OR = 1.77, 95% CI: 1.08, 2.89). Current use of calcium channel blockers was inversely associated with the presence of calcinosis (OR = 0.70, 95% CI: 0.52, 0.96). Of the 805 patients with no calcinosis at study entry and at least one follow-up visit, 215 (26.7%) developed calcinosis during follow-up. Significant baseline predictors of the development of calcinosis in follow-up were digital ischaemia (hazard ratio (HR) = 1.82, 95% CI: 1.30, 2.54), capillary dropout (HR = 1.46, 95% CI: 1.08, 1.99), dcSSc (HR = 1.57, 95% CI: 1.11, 2.21), ACA (HR = 2.18, 95% CI: 1.50, 3.17) and anti-RNA polymerase III antibodies (HR = 2.58, 95% CI: 1.65, 4.04). Ischaemia may play a role in the development of calcinosis in SSc. © The Author 2016. Published by Oxford University Press on behalf of the British Society for Rheumatology

  11. Efficacy of thalidomide in a girl with inflammatory calcinosis, a severe complication of juvenile dermatomyositis

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    Inayama Yoshiaki

    2010-02-01

    Full Text Available Abstract We report a 14-year-old girl with juvenile dermatomyositis (JDM complicated by severe inflammatory calcinosis successfully treated with thalidomide. She was diagnosed as JDM when she was 4 years old after a few months of increasing lethargy, muscle pain, muscle weakness, and rash. During three months, clinical manifestations and abnormal laboratory findings were effectively treated with oral prednisolone. However, calcinosis was recognized 18 months after disease onset. Generalized calcinosis rapidly progressed with high fever, multiple skin/subcutaneous inflammatory lesions, and increased level of CRP. Fifty mg/day (1.3 mg/kg day of oral thalidomide was given for the first four weeks, and then the dose was increased to 75 mg/day. Clinical manifestations subsided, and inflammatory markers had clearly improved. Frequent high fever and local severe pain with calcinosis were suppressed. The levels of FDP-E, IgG, and tryglyceride, which were all elevated before the thalidomide treatment, were gradually returned to the normal range. Over the 18 months of observation up to the present, she has had no inflammatory calcinosis, or needed any hospitalization, although established calcium deposits still remain. Her condition became painless, less extensive and less inflammatory with the CRP level below 3.08 mg/dL. Recent examination by whole-body 18F-FDG-PET-CT over the 15 months of thalidomide treatment demonstrated fewer hot spots around the subcutaneous calcified lesions.

  12. Disproportionately severe calcinosis cutis in an 88-year-old patient with CREST syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Buchowski, J.M.; Ahn, N.U.; Ahn, U.M. [Dept. of Orthopaedic Surgery, Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States); McCarthy, E.F. [Dept. of Orthopaedic Surgery, Johns Hopkins Univ. School of Medicine, Baltimore, MD (United States); Dept. of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD (United States); Mehta, M.B. [Clinical Associates, Good Samaritan Hospital, Baltimore, MD (United States)

    2001-08-01

    An 88-year-old woman with CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasias) presented with hyperglycemia, intravascular depletion, and atrial fibrillation. The patient was found to have unusually severe calcinosis cutis in both legs extending from the knees to the ankles bilaterally, as well as Raynaud's phenomenon, sclerodactyly, and telangiectasias. The patient was normocalcemic and normophosphatemic. Although subcutaneous calcification is often seen with CREST syndrome, this case is unusual in that the area of involvement was much larger than previously described. Furthermore, the amount of calcinosis was disproportionately severe and was the major cause of symptoms and disability compared with the other components of the syndrome. (orig.)

  13. Tumoral calcinosis peri articular in infants: study by conventional radiology and CT

    International Nuclear Information System (INIS)

    Barrera, M.C.; Loyola, F.; Fernandez de Barrera, F.J.; Villanua, J.A.; Nogues, A.

    1994-01-01

    Tumoral calcinosis is an uncommon disease of poorly defined origin that effects the peri articular soft tissue. It is very rarely located in the region of the knee except in children. We present a case occurring in the knee in which the course of both the clinical and radiological signs was favorable. (Author)

  14. Subcutis calcinosis caused by injection of calcium-containing heparin in a chronic kidney injury patient

    Directory of Open Access Journals (Sweden)

    Lilia Ben Fatma

    2014-01-01

    Full Text Available Subcutis calcinosis, characterized by abnormal calcium deposits in the skin, is a rare complication of using calcium-containing heparin occurring in patients with advanced renal failure. We report the case of an 83-year-old female, a known case of chronic kidney disease (CKD for four years with recent worsening of renal failure requiring hospitalization and hemodialysis. She developed subcutis calcinosis following injection of calcium-containing heparin. Biochemical tests showed serum parathormone level at 400 pg/dL, hypercalcemia, elevated calcium-phosphate product and monoclonal gammopathy related to multiple myeloma. She developed firm subcu-taneous nodules in the abdomen and the thighs, the injection sites of Calciparin ® (calcium nadroparin that was given as a preventive measure against deep vein thrombosis. The diagnosis of subcutis calcinosis was confirmed by the histological examination showing calcium deposit in the dermis and hypodermis. These lesions completely disappeared after discontinuing calcium nadro-parin injections. Subcutis calcinosis caused by injections of calcium-containing heparin is rare, and, to the best our knowledge, not more than 12 cases have been reported in the literature. Pathogenesis is not well established but is attributed to the calcium disorders usually seen in advanced renal failure. Diagnosis is confirmed by histological tests. Outcome is mostly favorable. The main differential diagnosis is calciphylaxis, which has a poor prognosis. Even though rarely reported, we should be aware that CKD patients with elevated calcium-phosphorus product can develop subcutis calcinosis induced by calcium-containing heparin. When it occurs, fortunately and unlike calci-phylaxis, outcome is favorable.

  15. Increased uptake on 99mTc bone scintigraphy in a case of tumoral calcinosis in a child

    Directory of Open Access Journals (Sweden)

    N Jawad

    2015-06-01

    Full Text Available Tumoral calcinosis is an idiopathic condition resulting in the periarticular deposition of calcium crystals and salts in soft tissues. It is rare in children, and even rarer in idiopathic form. We present a case of a 2-year-old female with tumoral calcinosis in the supraclavicular region, and, in particular, focus on the pertinent radiological findings with radiography, MRI and bone scintigraphy.

  16. Tumoral calcinosis in a dog with chronic renal failure : clinical communication

    Directory of Open Access Journals (Sweden)

    T.C. Spotswood

    2003-06-01

    Full Text Available A 2-year-old male German shepherd dog in poor bodily condition was evaluated for thoracic limb lameness due to a large, firm mass medial to the left cranial scapula. Radiography revealed several large cauliflower-like mineralized masses in the craniomedial left scapula musculature, pectoral region and bilaterally in the biceps tendon sheaths. Urinalysis, haematology and serum biochemistry showed that the dog was severely anaemic, hyperphosphataemic and in chronic renal failure. The dog was euthanased and a full post mortem performed. A diagnosis of chronic renal failure with secondary hyperparathyroidism was confirmed. The mineralized masses were grossly and histopathologically consistent with a diagnosis of tumoral calcinosis. Tumoral calcinosis associated with chronic renal failure that does not involve the foot pads is rarely seen.

  17. Dietary Phosphate Restriction Normalizes Biochemical and Skeletal Abnormalities in a Murine Model of Tumoral Calcinosis

    OpenAIRE

    Ichikawa, Shoji; Austin, Anthony M.; Gray, Amie K.; Allen, Matthew R.; Econs, Michael J.

    2011-01-01

    Mutations in the GALNT3 gene cause tumoral calcinosis characterized by ectopic calcifications due to persistent hyperphosphatemia. We recently developed Galnt3 knockout mice in a mixed background, which had hyperphosphatemia with increased bone mineral density (BMD) and infertility in males. To test the effect of dietary phosphate intake on their phenotype, Galnt3 knockout mice were generated in the C57BL/6J strain and fed various phosphate diets: 0.1% (low), 0.3% (low normal), 0.6% (normal),...

  18. Prostaglandin PGE2: a possible mechanism for bone destruction in calcinosis circumscripta.

    Science.gov (United States)

    Caniggia, A; Gennari, C; Vattimo, A; Runci, F; Bombardieri, S

    1978-02-28

    A patient showed evident osteolysis in phalanges and heavy periarticular calcium deposits of the fingers, wrists and toes which avidly took up 47Ca. The dense, white, tooth-paste like fluid contained in the periarticular calcium deposits has been studied by two different X-ray diffraction methods, by Ubatuba's bioassay for prostaglandin, by thin layer chromatography and by mass spectrometry. The calcium deposits were hydroxyapatite and prostaglandin PGE2 was detected in them. The bone resorption stimulating activity of PGE2 would be expected to result in increased bone destruction with release of calcium salts and this could be a working hypothesis of the pathogenesis of calcinosis circumscripta.

  19. Imaging features in calcinosis circumscripta, a rare type of subcutaneous calcification in localized scleroderma

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    Pratiksha Yadav

    2013-01-01

    Full Text Available Calcinosis cutis circumscripta is a rare condition in which abnormal deposition of calcium seen in the dermis and subcutaneous tissue, it is associated with localized scleroderma. A 30-year-old female presented with an area of extensive calcification involving the right gluteal region, lateral aspect of right thigh and a small area on left thigh detected on radiograph with atrophy of subcutaneous tissue. Magnetic resonance imaging and computed tomography were done for further evaluation and the findings were of calcification and atrophy involving the skin and subcutaneous tissue.

  20. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis

    Science.gov (United States)

    Ichikawa, Shoji; Imel, Erik A.; Kreiter, Mary L.; Yu, Xijie; Mackenzie, Donald S.; Sorenson, Andrea H.; Goetz, Regina; Mohammadi, Moosa; White, Kenneth E.; Econs, Michael J.

    2007-01-01

    Familial tumoral calcinosis is characterized by ectopic calcifications and hyperphosphatemia due to inactivating mutations in FGF23 or UDP-N-acetyl-α-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3). Herein we report a homozygous missense mutation (H193R) in the KLOTHO (KL) gene of a 13-year-old girl who presented with severe tumoral calcinosis with dural and carotid artery calcifications. This patient exhibited defects in mineral ion homeostasis with marked hyperphosphatemia and hypercalcemia as well as elevated serum levels of parathyroid hormone and FGF23. Mapping of H193R mutation onto the crystal structure of myrosinase, a plant homolog of KL, revealed that this histidine residue was at the base of the deep catalytic cleft and mutation of this histidine to arginine should destabilize the putative glycosidase domain (KL1) of KL, thereby attenuating production of membrane-bound and secreted KL. Indeed, compared with wild-type KL, expression and secretion of H193R KL were markedly reduced in vitro, resulting in diminished ability of FGF23 to signal via its cognate FGF receptors. Taken together, our findings provide what we believe to be the first evidence that loss-of-function mutations in human KL impair FGF23 bioactivity, underscoring the essential role of KL in FGF23-mediated phosphate and vitamin D homeostasis in humans. PMID:17710231

  1. CALCINOSIS CIRCUMSCRIPTA IN A COHORT OF RELATED JUVENILE AFRICAN LIONS (PANTHERA LEO).

    Science.gov (United States)

    Bauer, Kendra L; Sander, Samantha J; Steeil, James C; Walsh, Timothy F; Neiffer, Donald L

    2017-09-01

    Three juvenile, genetically related African lions (Panthera leo) were evaluated for discrete dome-shaped subcutaneous masses present over the proximal lateral metatarsal-tarsal area. The lesions measured 3-8 cm in diameter, were fluctuant to firm, nonulcerated, and attached to underlying structures. On radiographic evaluation, the lesions were characterized by well-circumscribed punctate mineralizations in the soft tissue surrounded by soft tissue swelling without evidence of adjacent bony involvement. On cut surface, the lesions were made of numerous loculi containing 2-5-mm round-to-ovoid, white-to-gray, firm structures interspersed with fibrous tissue and pockets of serosanguinous fluid. Hematology, serum biochemistry, serum thyroid screening (including total thyroxine, total triiodothyronine, free thyroxine, and free triiodothyronine), and serum vitamin D panels (including parathyroid hormone, ionized calcium, and 25-hydroxyvitamin D) were unremarkable. Histopathologic evaluation of the lesions was consistent with calcinosis circumscripta with fibroplasia, chronic inflammation, and seroma formation. An additional two genetically related lions were considered suspect for calcinosis circumscripta based on presentation, exam findings, and similarity to the confirmed cases. All masses self-regressed and were not associated with additional clinical signs other than initial lameness in two cases.

  2. Reversal of uremic tumoral calcinosis by optimization of clinical treatment of bone and mineral metabolism disorder

    Directory of Open Access Journals (Sweden)

    Mariana Espiga Maioli

    Full Text Available Abstract Tumoral calcinosis is an uncommon type of extraosseous calcification characterized by large rubbery or cystic masses containing calcium-phosphate deposits. The condition prevails in the periarticular tissue with preservation of osteoarticular structures. Elevated calcium-phosphorus products and severe secondary hyperparathyroidism are present in most patients with uremic tumoral calcionosis (UTC. Case report of an obese secondary to chronic glomerulonephritis, undergoing continuous ambulatory peritoneal dialysis (CAPD reported the appearance of painless tumors in the medial surface of fifth finger and left arm. Tumoral calcinosis was confirmed by left biceps biopsy. Poor adherence to CAPD. The patient was transferred to the "tidal" modality of peritoneal dialysis and after was treated by hemodialysis, despite the persistence of severe hyperparathyroidism progressive reduction of UTC until near to its complete disappearance. Nowadays, one year after patient received deceased-donor kidney transplantation, he presents with an improvement in secondary hyperparathyroidism. UTC should be included in the elucidation of periarticular calcification of every patient on dialysis. Relevant laboratory findings such as secondary hyperparathyroidism and elevated calcium- phosphorus products in the presence of periarticular calcification should draw attention to the diagnosis of UTC.

  3. Peritendinous calcinosis of calcaneus tendon associated with dermatomyositis: correlation between conventional radiograph, ultrasound, magnetic resonance imaging and gross surgical pathology; Calcinose peritendinea do tendao calcaneo associada a dermatomiosite: correlacao entre radiografia convencional, ultra-sonografia, ressonancia magnetica e macroscopia cirurgica

    Energy Technology Data Exchange (ETDEWEB)

    Rosa, Ana Claudia Ferreira; Gomide, Lidyane Marques de Paula; Lemes, Marcella Stival [Universidade Federal de Goias (UFG), Goiana, GO (Brazil). Faculdade de Medicina. Hospital das Clinicas; Costa, Edegmar Nunes; Rocha, Valney Luiz da [Universidade Federal de Goias (UFG), Goiania, GO (Brazil). Faculdade de Medicina. Dept. de Ortopedia; Machado, Marcio Martins; Santos Junior, Rubens Carneiro dos; Barros, Nestor de; Cerri, Giovanni Guido [Universidade Federal de Goias (UFG), Goiania, GO (Brazil). Faculdade de Medicina. Dept. de Radiologia; Sernik, Renato Antonio [Sao Paulo Univ., SP (Brazil). Hospital das Clinicas. Inst. de Radiologia; Nunes, Rodrigo Alvarenga [Universidade do Vale do Sapucai (UNIVAS), Pouso Alegre, MG (Brazil). Faculdade de Ciencias Medicas; Albieri, Alexandre Daher [Hospital de Acidentados de Goiania, GO (Brazil)

    2006-01-15

    Interstitial calcinosis is an uncommon condition in which there is either localized or widely disseminated deposition of calcium in the skin, subcutaneous tissues, muscles, and tendons. Calcinosis is often associated with collagen diseases, scleroderma and dermatomyositis. The authors report a case of interstitial calcinosis associated with dermatomyositis studied with conventional radiograph, ultrasound and magnetic resonance imaging, and correlate the imaging findings with the results of surgical pathology gross examination. (author)

  4. Dietary phosphate restriction normalizes biochemical and skeletal abnormalities in a murine model of tumoral calcinosis.

    Science.gov (United States)

    Ichikawa, Shoji; Austin, Anthony M; Gray, Amie K; Allen, Matthew R; Econs, Michael J

    2011-12-01

    Mutations in the GALNT3 gene cause tumoral calcinosis characterized by ectopic calcifications due to persistent hyperphosphatemia. We recently developed Galnt3 knockout mice in a mixed background, which had hyperphosphatemia with increased bone mineral density (BMD) and infertility in males. To test the effect of dietary phosphate intake on their phenotype, Galnt3 knockout mice were generated in the C57BL/6J strain and fed various phosphate diets: 0.1% (low), 0.3% (low normal), 0.6% (normal), and 1.65% (high). Sera were analyzed for calcium, phosphorus, alkaline phosphatase, creatinine, blood urine nitrogen, 1,25-dihydroxyvitamin D, osteocalcin, tartrate-resistant acid phosphatase 5b, and fibroblast growth factor 23 (Fgf23). Femurs were evaluated by dual-energy x-ray absorptiometry, dynamic histomorphometry, and/or microcomputed tomography. Galnt3 knockout mice in C57BL/6J had the same biochemical phenotype observed in our previous study: hyperphosphatemia, inappropriately normal 1,25-dihydroxyvitamin D level, decreased alkaline phosphatase activity, and low intact Fgf23 concentration but high Fgf23 fragments. Skeletal analyses of their femurs revealed significantly high BMD with increased cortical bone area and trabecular bone volume. On all four phosphate diets, Galnt3 knockout mice had consistently higher phosphorus levels and lower alkaline phosphatase and intact Fgf23 concentrations than littermate controls. The low-phosphate diet normalized serum phosphorus, alkaline phosphatase, and areal BMD but failed to correct male infertility in Galnt3 knockout mice. The high-phosphate diet did not increase serum phosphorus concentration in either mutant or control mice due to a compensatory increase in circulating intact Fgf23 levels. In conclusion, dietary phosphate restriction normalizes biochemical and skeletal phenotypes of Galnt3 knockout mice and, thus, can be an effective therapy for tumoral calcinosis.

  5. Use of computed tomography and computed tomographic myelography for assessment of spinal tumoral calcinosis in a dog

    International Nuclear Information System (INIS)

    Ham, L.M. van; Bree, H.J. van; Tshamala, M.; Thoonen, H.

    1995-01-01

    Spinal tumoral calcinosis is reported in a Berner sennenhund puppy. The condition was manifested clinically as a non-ambulatory tetraparesis associated with neck pain. On survey radiographs there was a focal calcified mass at the atlantoaxial articulation. Computed tomography and computed tomographic myelography gave additional information on the extent of the mass and on the degree of spinal cord compression. The mass was removed surgically and the dog made a complete recovery

  6. Autoantibodies to a 140-kd protein in juvenile dermatomyositis are associated with calcinosis.

    LENUS (Irish Health Repository)

    Gunawardena, H

    2009-06-01

    OBJECTIVE: The identification of novel autoantibodies in juvenile dermatomyositis (DM) may have etiologic and clinical implications. The aim of this study was to describe autoantibodies to a 140-kd protein in children recruited to the Juvenile DM National Registry and Repository for UK and Ireland. METHODS: Clinical data and sera were collected from children with juvenile myositis. Sera that recognized a 140-kd protein by immunoprecipitation were identified. The identity of the p140 autoantigen was investigated by immunoprecipitation\\/immunodepletion, using commercial monoclonal antibodies to NXP-2, reference anti-p140, and anti-p155\\/140, the other autoantibody recently described in juvenile DM. DNA samples from 100 Caucasian children with myositis were genotyped for HLA class II haplotype associations and compared with those from 864 randomly selected UK Caucasian control subjects. RESULTS: Sera from 37 (23%) of 162 patients with juvenile myositis were positive for anti-p140 autoantibodies, which were detected exclusively in patients with juvenile DM and not in patients with juvenile DM-overlap syndrome or control subjects. No anti-p140 antibody-positive patients were positive for other recognized autoantibodies. Immunodepletion suggested that the identity of p140 was consistent with NXP-2 (the previously identified MJ autoantigen). In children with anti-p140 antibodies, the association with calcinosis was significant compared with the rest of the cohort (corrected P < 0.005, odds ratio 7.0, 95% confidence interval 3.0-16.1). The clinical features of patients with anti-p140 autoantibodies were different from those of children with anti-p155\\/140 autoantibodies. The presence of HLA-DRB1*08 was a possible risk factor for anti-p140 autoantibody positivity. CONCLUSION: This study has established that anti-p140 autoantibodies represent a major autoantibody subset in juvenile DM. This specificity may identify a further immunogenetic and clinical phenotype within the

  7. Fatores de risco associados à calcinose na dermatomiosite juvenil Risk factors associated with calcinosis of juvenile dermatomyositis

    Directory of Open Access Journals (Sweden)

    Adriana M. E. Sallum

    2008-02-01

    calcinosis in children and adolescents with juvenile dermatomyositis. METHODS: A review was carried out of the medical records of 54 patients with juvenile dermatomyositis. Data were collected on demographic characteristics, clinical features: muscle strength (stages I to V of the Medical Research Council scale, pulmonary involvement (restrictive pulmonary disease with presence or absence of anti-Jo1 antibodies, gastrointestinal problems (gastroesophageal reflux and/or heart disease (pericarditis and/or myocarditis; laboratory tests: elevated muscle enzyme levels in serum (creatine phosphokinase, aspartate aminotransferase, alanine aminotransferase and/or lactate dehydrogenase; and on the treatments given: corticoid therapy in isolation or associated with hydroxychloroquine and/or immunosuppressants. The patients were divided into two groups, depending on presence or absence of calcinosis and data were evaluated by both univariate and multivariate analyses. RESULTS: Calcinosis was identified in 23 (43% patients, and in six (26% patients it had emerged prior to diagnosis while in 17 (74% it was post diagnosis. The univariate analysis revealed that cardiac (p = 0.01 and pulmonary (p = 0.02 involvement and the need for one or more immunosuppressor (methotrexate, cyclosporine A and/or pulse therapy with intravenous cyclophosphamide to treat juvenile dermatomyositis (p = 0.03 were all associated with an increased incidence of calcinosis. The multivariate analysis then demonstrated that only cardiac involvement (OR = 15.56; 95%CI 1.59-152.2 and the use of one or more immunosuppressor (OR = 4.01; 95%CI 1.08-14.87 were independently associated with the presence of calcinosis. CONCLUSIONS: Calcinosis was a frequent development among these juvenile dermatomyositis cases, generally emerging as the disease progressed. Calcinosis was associated with the more severe cases that also had cardiac involvement and where immunosuppressors had to be included in the treatment.

  8. Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3

    International Nuclear Information System (INIS)

    Joseph, Leo; Joseph, Selvanayagam; Hing, Sandra N.; Idowu, Bernadine D.; Delaney, David; Presneau, Nadege; O'Donnell, Paul; Diss, Tim; Flanagan, Adrienne Margaret

    2010-01-01

    To report on the biochemistry and clinical and genetic findings of two siblings, the younger sister presenting with recurrent bone pain of the radius and ulna, and medullary sclerosis, and the older brother with soft tissue calcific deposits (tumoral calcinosis) but who later developed bone pain. Both were found to be hyperphosphaturic. The index family comprised four individuals (father, mother, brother, sister). The affected siblings were the offspring of a non-consanguineous Indian family of Tamil origin. Bidirectional sequencing was performed on the DNA from the index family and on 160 alleles from a population of 80 unrelated unaffected control individuals of Tamil extraction and 72 alleles from individuals of non-Tamil origin. Two symptomatic siblings were found to harbour previously unreported compound heterozygous missense UDP-N-acetyl-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-transferase; GALNT3) mutations in exon 4 c.842A>G and exon 5 c.1097T>G. This sequence variation was not detected in the control DNA. This is the first report of siblings exhibiting stigmata of familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome with documented evidence of autosomal recessive missense GALNT3 mutations. The findings from this family add further evidence to the literature that familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are manifestations of the same disease and highlight the importance of appropriate metabolic and genetic investigations. (orig.)

  9. Familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are different manifestations of the same disease: novel missense mutations in GALNT3

    Energy Technology Data Exchange (ETDEWEB)

    Joseph, Leo; Joseph, Selvanayagam [Vinodhagan Memorial Hospital and Dr. Joseph' s Ortho Clinic, Department of Orthopaedic Surgery, Thanjavur (India); Hing, Sandra N.; Idowu, Bernadine D.; Delaney, David [Royal National Orthopaedic Hospital NHS Trust, Department of Histopathology, Stanmore, Middlesex (United Kingdom); Presneau, Nadege [University College London (UCL), Cancer Institute, London (United Kingdom); O' Donnell, Paul [Royal National Orthopaedic Hospital NHS Trust, Department of Radiology, Stanmore, Middlesex (United Kingdom); University College London (UCL), Institute of Orthopaedics and Musculoskeletal Science, Stanmore (United Kingdom); University College London (UCL), The Institute of Orthopaedics and Musculoskeletal Science, London (United Kingdom); Diss, Tim [University College London Hospital (UCLH) NHS Trust, Rockefeller Building, Department of Histopathology, London (United Kingdom); Flanagan, Adrienne Margaret [Royal National Orthopaedic Hospital NHS Trust, Department of Histopathology, Stanmore, Middlesex (United Kingdom); University College London (UCL), Cancer Institute, London (United Kingdom); University College London Hospital (UCLH) NHS Trust, Rockefeller Building, Department of Histopathology, London (United Kingdom); University College London (UCL), Institute of Orthopaedics and Musculoskeletal Science, Stanmore (United Kingdom); Institute of Orthopaedics and Musculoskeletal Science, Stanmore, Middlesex (United Kingdom)

    2010-01-15

    To report on the biochemistry and clinical and genetic findings of two siblings, the younger sister presenting with recurrent bone pain of the radius and ulna, and medullary sclerosis, and the older brother with soft tissue calcific deposits (tumoral calcinosis) but who later developed bone pain. Both were found to be hyperphosphaturic. The index family comprised four individuals (father, mother, brother, sister). The affected siblings were the offspring of a non-consanguineous Indian family of Tamil origin. Bidirectional sequencing was performed on the DNA from the index family and on 160 alleles from a population of 80 unrelated unaffected control individuals of Tamil extraction and 72 alleles from individuals of non-Tamil origin. Two symptomatic siblings were found to harbour previously unreported compound heterozygous missense UDP-N-acetyl-D-galactosamine: polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-transferase; GALNT3) mutations in exon 4 c.842A>G and exon 5 c.1097T>G. This sequence variation was not detected in the control DNA. This is the first report of siblings exhibiting stigmata of familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome with documented evidence of autosomal recessive missense GALNT3 mutations. The findings from this family add further evidence to the literature that familial tumoral calcinosis and hyperostosis-hyperphosphataemia syndrome are manifestations of the same disease and highlight the importance of appropriate metabolic and genetic investigations. (orig.)

  10. Phenotypic and Genotypic Characterization and Treatment of a Cohort with Familial Tumoral Calcinosis/Hyperostosis-Hyperphosphatemia Syndrome

    Science.gov (United States)

    Ramnitz, Mary Scott; Gourh, Pravitt; Goldbach-Mansky, Raphaela; Wodajo, Felasfa; Ichikawa, Shoji; Econs, Michael J.; White, Kenneth; Molinolo, Alfredo; Chen, Marcus Y.; Heller, Theo; Del Rivero, Jaydira; Seo-Mayer, Patricia; Arabshahi, Bita; Jackson, Malaka B.; Hatab, Sarah; McCarthy, Edward; Guthrie, Lori C.; Brillante, Beth A.; Gafni, Rachel I.; Collins, Michael T.

    2016-01-01

    Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO. The result is functional deficiency of, or resistance to, intact FGF23 (iFGF23), causing hyperphosphatemia, increased renal tubular reabsorption of phosphorus (TRP), elevated or inappropriately normal 1,25-dihydroxyvitamin D3 (1,25D), ectopic calcifications and/or diaphyseal hyperostosis. Eight subjects with FTC/HHS were studied and treated. Clinical manifestations varied, even within families, ranging from asymptomatic to large, disabling calcifications. All subjects had hyperphosphatemia, increased TRP, and elevated or inappropriately normal 1,25D. C-terminal FGF23 was markedly elevated while iFGF23 was comparatively low, consistent with increased FGF23 cleavage. Radiographs ranged from diaphyseal hyperostosis to massive calcification. Two subjects with severe calcifications also had overwhelming systemic inflammation and elevated C-reactive protein (CRP). GALNT3 mutations were identified in 7 subjects; no causative mutation was found in the eighth. Biopsies from 4 subjects showed ectopic calcification and chronic inflammation, with areas of heterotopic ossification observed in 1 subject. Treatment with low phosphate diet, phosphate binders, and phosphaturia-inducing therapies was prescribed with variable response. One subject experienced complete resolution of a calcific mass after 13 months of medical treatment. In the 2 subjects with systemic inflammation, interleukin-1 (IL-1) antagonists significantly decreased CRP levels with resolution of calcinosis cutis and peri-lesional inflammation in one subject and improvement of overall well-being in both subjects. This cohort expands the phenotype and genotype of FTC/HHS and demonstrates the range of clinical manifestations despite similar biochemical profiles and genetic mutations

  11. Dystrophic calcification in muscles of legs in calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia syndrome: Accurate evaluation of the extent with 99mTc-methylene diphosphonate single photon emission computed tomography/computed tomography

    International Nuclear Information System (INIS)

    Chakraborty, Partha Sarathi; Karunanithi, Sellam; Dhull, Varun Singh; Kumar, Kunal; Tripathi, Madhavi

    2015-01-01

    We present the case of a 35-year-old man with calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia variant scleroderma who presented with dysphagia, Raynaud's phenomenon and calf pain. 99m Tc-methylene diphosphonate bone scintigraphy was performed to identify the extent of the calcification. It revealed extensive dystrophic calcification in the left thigh and bilateral legs which was involving the muscles and was well-delineated on single photon emission computed tomography/computed tomography. Calcinosis in scleroderma usually involves the skin but can be found in deeper periarticular tissues. Myopathy is associated with a poor prognosis

  12. Mucocele of the appendix in a 77-year-old man with calcinosis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly and telangiectasias syndrome

    Directory of Open Access Journals (Sweden)

    Hanen Loukil

    2016-08-01

    Full Text Available Mucocele is an uncommon pathology of the vermiform appendix estimated to be seen in 0.2-0.3%. The term mucocele means dilation of the appendix due to mucus, caused either by a benign or a malignant process. Herein, we report the case of a 77-year-old man with Calcinosis, Raynaud’s phenomenon, Esophageal dysfunction, Sclerodactyly and Telangiectasias syndrome, a limited form of Scleroderma, who had presented an abdominal cyclical pain and in which abdominopelvic computed tomography scan concluded to the diagnosis of appendiceal mucocele. Surgery and histopathology confirmed the diagnosis of mucinous cystadenoma. This association appendiceal mucocele and scleoderma has not been previously reported. The clinical and radiological features of this unusual complication are reviewed.

  13. Arterial diffuse intimal thickening associated with enzootic calcinosis of sheep Espessamento intimal difuso das artérias na calcinose enzoótica dos ovinos

    Directory of Open Access Journals (Sweden)

    Rosemeri Oliveira Vasconcelos

    1998-01-01

    Full Text Available Morphometric, immunohistochemical and ultrastructural studies were carried out on the diffuse intimal thickening (DIT in arteries of 7 sheep with clinical signs of naturally occurring enzootic calcinosis due to ingestion of the plant Nierembergia veitchii. Arterial lesions consisted of medial deposition of calcium salts and DIT. Calcification of the intima was rare, mild and located near the elastic lamina. By immunohistochemistry a-actin was detected in cells of the media and in cells forming the intimal thickening. Receptors for 1,25(OH2 vitamin D3 were detected in nuclei of intimal, medial and endothelial cells. DIT was irregularly distributed and was neither proportionally related to the intensity of the underlying mineralization area nor to the thickening of the remaining media. Ultrastructural morphometry in smooth muscle cells (SMCs of the media and thickened intima revealed, in the latter, an increase of 318% in the volumetric fraction of those organelles involved in synthesis and a proportional decrease in contractile elements when compared to normal values of media cells. There were histological and ultrastructural evidences of modification of SMCs and their migration to the intima, where they proliferated causing DIT. It was concluded that DIT is a consistent component of arteriosclerotic lesions in N. veitchii induced calcinosis of sheep and that the predominant cell in this process is the SMCs originated from its predecessors of the media. It is suggested that the inducing factor for the arterial changes is 1,25(OH2 D3 present in N. veitchii.Foram feitos estudos morfométrico, imunoistoquímico e ultra-estrutural do espessamento intimal difuso (DIT das artérias de 7 ovinos com sinais clínicos de calcinose enzoótica espontânea causada pela ingestão da planta Nierembergia veitchii. As lesões caracterizavam-se por deposição de sais de cálcio na média como placas e estrias que, com frequência faziam saliência para a luz

  14. Ocular involvement in tumoral calcinosis

    Directory of Open Access Journals (Sweden)

    Harsha Bhattacharjee

    2014-01-01

    Full Text Available We report a 32-year-old male who presented with blurring of vision in the right eye since 1.5 years. He had history of swelling over the extensor surfaces of large joints which were migratory in nature. Few of them spontaneously subsided following suppuration of chalky white discharges except over the gluteal region. Ophthalmological examination revealed visual acuity of counting fingers (CF at 1 m in the right eye and perilimbal conjunctival calcific deposits and retinal angiod streaks in both eyes. There was choroidal neovascular membrane with subretinal hemorrhage in right eye, confirmed by fundus fluorescein angiography (FFA and optical coherence tomography (OCT. B scan ultrasonography and simultaneous vector A scan detected calcification of the subretinal neovascular membrane and the adjoining sclera.

  15. Calcinose cútis distrófica universal associada a lúpus eritematoso sistêmico: um caso exuberante Calcinosis cutis universalis associated with systemic lupus erythematosus: an exuberant case

    Directory of Open Access Journals (Sweden)

    Ana Paula Gonçalves Carocha

    2010-12-01

    Full Text Available Calcinose cutânea é uma doença incomum, de fisiopatologia incerta e, muitas vezes, incapacitante. Caracteriza-se pela deposição de sais de cálcio na pele ou tecido subcutâneo. É classificada em quatro subtipos: metastática, distrófica, idiopática e iatrogênica. Pode ser vista em várias doenças sistêmicas como hiperparatireoidismo e hipervitaminose D, ocorrendo com maior frequência na dermatomiosite, esclerodermia e síndromes overlap, sendo uma complicação infrequente no lúpus eritematoso sistêmico. O manejo das complicações secundárias, assim como o sucesso terapêutico, constituem desafios constantes no seguimento destes casos.Calcinosis cutis is an uncommon disease of unclear pathophysiology that is often disabling. It is characterized by the formation of calcium deposits in the skin or subcutaneous tissue. It is classified into four subtypes: dystrophic, metastatic, idiopathic or iatrogenic. It may be seen in a variety of systemic diseases such as hyperparathyroidism and hypervitaminosis D, but is most commonly found in dermatomyositis, scleroderma and overlap syndromes and is a rare complication of systemic lupus erythematosus. The management of secondary complications and the success of therapy are constant challenges in the follow-up of these cases.

  16. Genetics Home Reference: hyperphosphatemic familial tumoral calcinosis

    Science.gov (United States)

    ... the cell and protects the protein from being broken down. Once outside the bone cell, fibroblast growth ... a protein with decreased function that quickly gets broken down. Mutations in the GALNT3 gene result in ...

  17. Calcinosis Cutis Long after Rhinoplasty with Silicone

    Directory of Open Access Journals (Sweden)

    Yuki Honda

    2014-12-01

    Full Text Available Rhinoplasty is a plastic surgery procedure to reconstruct the nose. Silicone alloplastic materials are most widely used as implants for rhinoplasty, but calcification on the surface occurs with long-term usage. Herein, we report a case of gruel-like calcification approximately 50 years after silicone implant rhinoplasty. In this case, calcification on the silicone surface might have transformed into gruel-like deposits, which presented as a subcutaneous mass at the dorsal area of the nose. The precise mechanism is unclear; a pH change in the tissue might have occurred during the process of inflammation, leading to the dissolution of calcified deposits.

  18. Fahr's syndrome - Idiopathic Bilateral Striopallidodentate Calcinosis ...

    African Journals Online (AJOL)

    Log in or Register to get access to full text downloads. ... Fehr's disease, also known as Idiopathic Calcification of the Basal Ganglia (ICBG) or ... ferrocalcinosis (and many others), is a rare sporadic or familial neurological disorder whose ...

  19. CALCINOSIS CUTIS – A SERIES OF 59 CONSECUTIVE CASES ...

    African Journals Online (AJOL)

    2013-04-04

    Apr 4, 2013 ... EAsT AFRICAN MEDICAL JOURNAL. April 2013 ... 12 Hospital, Reconstructive Surgeon, A. Sabir, General Surgeon, Head of Department of Surgery, Attat Hospital, P. O. ... Clinical chemistry investigations were made among.

  20. CASE REPORT Calcinosis cutis universalis – a rare manifestation of ...

    African Journals Online (AJOL)

    F E Suleman, MB ChB, FC Rad (Diag), M Med Rad (Diag). Department of Radiology ... palpable hard deposits in the soft tissue. She was pale, had ... may occur, leading to ulceration and extrusion of calcified material.2,4. Our patient had ...

  1. Excretory calcinosis: a new fatal disease of wild American lobsters Homarus americanus.

    Science.gov (United States)

    Dove, Alistair D M; LoBue, Carl; Bowser, Paul; Powell, Mark

    2004-03-10

    A significant number of moribund and dead lobsters Homarus americanus were reported to New York state authorities by lobster fishers in Long Island Sound (LIS) during the summer of 2002. Morbid lobsters were characterised by an orange discolouration of the abdomen, lethargy, an excess of epibionts and poor post-capture survival. On necropsy, severe extensive multifocal or diffuse mineralised granulomatous inflammation of the gills and antennal glands was the most striking pathology. In the gills, granulomas often occluded the lumen of filaments, resulting in congestion, ischemia and coagulative necrosis of gill tissues. In the antennal glands, granulomas were concentrated along the border between the coelomosac and labyrinth. No significant pathogens were recovered from diseased individuals. In prechronic individuals, however, it was evident that granulomas were focused around calcium carbonate (aragonite) crystals. This disease may result from anomalously high sea-bottom temperatures in LIS (approximately 23 degrees C) during the summer of 2002 and associated disruptions of the calcium chemistry of lobsters in favour of deposition of minerals in soft tissues. The ultimate cause of death of affected lobsters is probably respiratory failure due to reduced effective surface area of the gills, exacerbated by hypermetabolic temperatures and an abundance of epibionts.

  2. Possibilities of radiologic diagnosis of pancreatic calcinosis and chronic calculous pancreatics

    International Nuclear Information System (INIS)

    Loginov, A.S.; Sivash, Eh.S.; Kudryavtseva, G.V.

    1982-01-01

    X-ray diagnosis of the pancreatic gland calculous damage as well as chronic pancreatitis have been studied in 23 patients. A methodologic approach to examination of this group of patients was defined. Posteroanterior radiography has been shown to be of decisive importance in diagnosis of the calcified pancreatic gland. Duodenography and choleduodenography both considerably promote recognition of chronic pancreatitis. The radiologic method also allows one to reveal a series of complications: the common bile duct compression, duodenal stenosis, pancreatic tumor in the presence of chronic pancreatitis, malabsorption syndrome

  3. Dystrophic calcinosis in a child with a thumb sucking habit: case report

    Directory of Open Access Journals (Sweden)

    Giovannini Cesar Abrantes Lima de Figueiredo

    2000-10-01

    Full Text Available We present an uncommon case of a 3-year-old boy with a finger sucking habit who developed dystrophic calcification in his left thumb. Two years after excision, there was no recurrence, and the thumb retained full range of motion. We also discuss its probable pathogenesis and present a brief review of the literature about orthopedic complications in the hand due to this habit.Os autores apresentam caso incomum de uma criança de três anos de idade com o hábito de chupar o dedo que desenvolveu calcinose distrófica no polegar esquerdo. Dois anos após a ressecção cirúrgica, não ocorreu recidiva e o polegar mantém todos os movimentos. Discutem, ainda, sua provável patogênese e fazem breve revisão da literatura a respeito das complicações ortopédicas na mão devido a este hábito.

  4. [Generalized metastatic intestinal and cutaneous calcinosis in a Hovawart puppy with leptospirosis].

    Science.gov (United States)

    Michel, E; Kook, P H; Voss, K; Boretti, F; Reichler, I M

    2011-01-01

    A 10-week old male Hovawart presented with acute renal failure. Based on clinical symptoms, blood analysis results and serology, a diagnosis of leptospirosis was made. Besides being acotemic, the puppy was initially also severely hypercalcemic. The dog was treated successfully, but developed widespread cutaneous and visceral calcifications. Severe pyloric calcification resulted in functional pyloric obstruction, which was successfully treated by pyloromyotomy. All skin lesions were cured with topical therapy within a few weeks. To the authors' knowledge, this is the first report of generalized intestinal and cutaneous calcification associated with acute renal failure due to Leptospirosis.

  5. CALCINOSIS CUTIS METASTÁSICA: CALCIFILAXIS (ARTERIOLOPATÍA URÉMICA CALCIFICADA. A PROPÓSITO DE UN CASO. [METASTATIC CALCINOSIS CUTIS: CALCIPHYLAXIS (CALCIFIED UREMIC ARTERIOLOPATHY. A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Lourdes Bolla de Lezcano

    2013-07-01

    Full Text Available Resumen La calcifilaxis es un síndrome clínico caracterizado por una calcificación vascular progresiva que ocasiona la aparición de lesiones violáceas, frecuentemente dolorosas, en la piel de pacientes con insuficiencia renal crónica, diálisis o trasplante renal, asociado usualmente a niveles elevados de hormona paratiroidea. Se presenta el caso clínico de una mujer de 44 años, diabética con insuficiencia renal crónica, en hemodiálisis desde hace 2 años, que fue diagnosticada de calcifilaxis tras sospecha clínica y biopsia de lesiones cutáneas. Abstract Calciphylaxis is a clinical syndrome characterized by progressive vascular calcification that causes the appearance of purplish lesions, often painful, in the skin of patients with chronic renal failure, dialysis or kidney transplantation, usually associated with elevated levels of parathyroid hormone. We report a case of a 44-year-old diabetic woman with chronic renal failure on hemodialysis for 2 years. She was diagnosed with calciphylaxis after clinical suspicion and biopsy of skin lesions.

  6. Calcinosis in juvenile dermatomyositis : a possible role for the vitamin K-dependent protein matrix Gla protein

    NARCIS (Netherlands)

    Van Summeren, M. J. H.; Spliet, W. G. M.; Van Royen-Kerkhof, A.; Vermeer, C.; Lilien, M.; Kuis, W.; Schurgers, L. J.

    Objectives. The aims of the present study were to investigate whether the calcification inhibitor matrix Gla protein (MGP) is expressed in muscle biopsies of patients with juvenile dermatomyositis (JDM), and whether different forms of MGP are differentially expressed in JDM patients with and without

  7. Calcificación y osificación extra esqueléticas: Calcinosis, calcergia y calcifilaxis

    Directory of Open Access Journals (Sweden)

    Philippe Chalem

    1996-01-01

    Full Text Available La calcificación y osificación extraesqueléticas son patologías que observamos frecuentemente en la práctica clínica. Sin embargo, existen pocos informes en la literatura médica y el conocimiento acerca de estas entidades es aun muy precario.

  8. Correlation between quantitative ultrasound parameters of the calcinosis and bone density of the spine and femur in Arabian women: Relation to menopausal status

    International Nuclear Information System (INIS)

    Al Suhaili, A.R.; Saadi, H.F.; Reed, R.L.; Carter, A.O.

    2002-01-01

    Aims: Quantitative ultrasound (QUS) of the calcaneus is being frequently used to screen for osteoporosis. This technique correlates very well with dual-energy X-ray absorptiometry (DXA) of the spine and femur, and predicts fracture risk in postmenopausal women. The correlation between QUS and DXA in premenopausal women with prevalent vitamin D deficiency however is not known. We assessed the correlation between both techniques in 55 pre- and postmenopausal Arabian women, a population with high prevalence of vitamin D deficiency. Methods: BMD of the right calcaneus was estimated by Sahara ultrasound (Hologic, Waltham, MA). Spine and right total femur BMD was determined by DXA scan (Lunar Expert XL, Madison, WI). Results: Overall, the correlation between calcaneal BMD estimated by QUS and spine and femur BMD measured by DXA in pre- and postmenopausal United Arab Emirates women was statistically significant (r=0.41; p=0.002 for spine and r=0.44; p=0.001 for femur, respectively). In postmenopausal women, all correlations between DXA and QUS parameters were statistically significant. In contrast, only BUA and SOS correlated significantly with spine BMD in premenopausal women. Conclusion: The correlation between DXA and QUS is statistically significant in postmenopausal United Arab Emirates women. However, this correlation is much weaker in premenopausal UAE women suggesting that other factors such as vitamin D deficiency may influence this correlation

  9. Evaluation of soft-tissue calcifications in dermatomyositis with /sup 99m/Tc--phosphate compounds: case report

    International Nuclear Information System (INIS)

    Sarmiento, A.H.; Alba, J.; Lanaro, A.E.; Dietrich, R.

    1975-01-01

    A whole-body scan with /sup 99m/Tc-pyrophosphate and 85 Sr-nitrate demonstrates extension of calcinosis in one case of dermatomyositis with cutaneous, subcutaneous, and muscular calcinosis. The authors suggest the potential use of /sup 99m/Tc-phosphate compounds as an auxiliary instrument in the evaluation of dermatomyositis--polymyositis syndrome. (U.S.)

  10. Medical image of the week: subcutaneous calcification in dermatomyositis

    Directory of Open Access Journals (Sweden)

    Natt B

    2016-12-01

    Full Text Available A 36-year old woman was referred to our Interstitial Lung Disease (ILD clinic for evaluation of dyspnea. A high-resolution CT scan of the chest showed perivascular reticular and ground glass opacities with air trapping, consistent with non-specific interstitial pneumonitis (Figure 1. She was diagnosed with connective tissue associated ILD. On review of previous images extensive subcutaneous calcifications were seen (Figure 2. Calcinosis is an uncommon manifestation of dermatomyositis in adults (1. It is usually seen around areas of frequent trauma like the hands and elbows. In her case, a pelvic inflammatory disease may have been a trigger for this calcinosis. Calcinosis is a difficult complication to treat with some success seen with diltiazem, aluminum hydroxide, and even alendronate in children. Surgical excision may be required in some cases.

  11. Hand and wrist involvement in systemic sclerosis: US features.

    Science.gov (United States)

    Freire, Véronique; Bazeli, Ramin; Elhai, Muriel; Campagna, Raphaël; Pessis, Éric; Avouac, Jérôme; Allanore, Yannick; Drapé, Jean-Luc; Guérini, Henri

    2013-12-01

    To characterize ultrasonographic (US) features in the hand of patients with systemic sclerosis (SSc) and to evaluate the sensitivity of US in the detection of calcinosis and acroosteolysis. The local ethics committee approved this study, and oral informed consent was obtained. A total of 44 consecutive patients with SSc (34 women; mean age, 56.1 years ± 12.1 [standard deviation]; 10 men; mean age, 45.0 years ± 14.0) and 30 healthy control subjects (20 women; mean age, 46.3 years ± 12.1; 10 men; mean age, 39.6 years ± 10.8) were included between October 2010 and December 2011. Bilateral US, including Doppler assessment of the wrists, hands, and fingers, was performed, and presence of synovitis, tenosynovitis with or without a layered appearance, calcifications, acroosteolysis, and distal vascularization was recorded. Radiography of both hands was performed to assess for acroosteolysis and calcinosis. Frequency of US features, sensitivity of US for calcinosis and acroosteolysis, and respective confidence intervals were calculated. Synovitis was found in 17 patients (39%). Tenosynovitis was found in 12 patients (27%), and it had a layered pattern in 15 (41%) of 37 cases. Calcinosis was found in 17 patients (39%) with US, with a sensitivity of 89%. Acroosteolysis was found in nine (20%) patients with US and in 10 (23%) patients with radiography, with 90% sensitivity for US. Distal vascularization was detected in 26 patients (59%) and 30 control subjects (100%) and was in contact with the acroosteolysis bed in seven (78%) of nine patients with SSc. US can be used to assess features of SSc, including synovitis, tenosynovitis, calcinosis, acroosteolysis, and distal vascularization and is sensitive for calcinosis and acroosteolysis detection. A layered pattern (similar to the appearance of an artichoke heart) of tenosynovitis was seen commonly. Online supplemental material is available for this article. © RSNA, 2013.

  12. The findings of noninvasive cardiovascular diagnosis with multihelical computed tomography

    International Nuclear Information System (INIS)

    Fed'kyiv, S.V.

    2009-01-01

    The patients aged of 25-82 underwent the multihelical computed tomography, 508 of them with coronary artery disease and 109 are under control. The findings of MHCT-analysis of the coronary arteries at their atherosclerotic involvement were presented with the use of quantitative assessment of coronary artery calcinosis according to Agatston's technique and noninvasive MHCT-coronagraphy.

  13. Skin changes in chronic kidney disease

    OpenAIRE

    Joanna M. Przepiórka-Kosińska; Katarzyna M. Chyl-Surdacka; Joanna Bartosińska; Dorota Krasowska; Grażyna Chodorowska

    2017-01-01

    Chronic kidney disease causes skin changes which may sometimes be the first sign of kidney failure. Specific skin changes include acquired perforating dermatosis, porphyria cutanea tarda, pseudoporphyria, calcinosis and nephrogenic systemic fibrosis. The majority of patients present with cutaneous manifestations which are classified as non-specific, including xerosis, pruritus, pigmentation disturbances, nail plate abnormalities, uraemic frost and gynaecomastia. Treatment improving kidney fun...

  14. Tracheobroncopathia Osteochondroplastica: Three Case Reports ...

    African Journals Online (AJOL)

    2017-05-16

    May 16, 2017 ... Generally chest radiography is normal, so thorax computed tomography can be remarkable ... and tracheobronchial calcinosis must be remembered in differential diagnosis. Also ossifications in submucosa and proof of bone marrow in histopathological ... nodular lesions the largest of which was 5 mm were.

  15. Crest syndrome

    International Nuclear Information System (INIS)

    Koch, B.; Roedl, W.

    1988-01-01

    If a patient has peri- and intra-articular calcinosis, as well as acro-osteolysis and esophageal hypomotility, and rheumatic symptoms, Crest syndrome should be considered as a manifestation of progressive systemic sclerosis. In connection with relevant symptoms on the skin and visceral involvement, radiological studies offer the possibility of classifying progressive systemic sclerosis more accurately. (orig.) [de

  16. Tracheobroncopathia osteochondroplastica: Three case reports with ...

    African Journals Online (AJOL)

    Besides, final diagnosis can be established by viewing ossified nodules in trachea and bronchus through the fiberoptic bronchoscopy. Amyloidosis, tuberculosis, sarcoidosis, bronchial carcinoma, and tracheobronchial calcinosis must be remembered in differential diagnosis. Also ossifications in submucosa and proof of ...

  17. Vitamin D, parathyroid hormone, and acroosteolysis in systemic sclerosis.

    Science.gov (United States)

    Braun-Moscovici, Yolanda; Furst, Daniel E; Markovits, Doron; Rozin, Alexander; Clements, Philip J; Nahir, Abraham Menahem; Balbir-Gurman, Alexandra

    2008-11-01

    .Sclerodactyly with acroosteolysis (AO) and calcinosis are prominent features of systemic sclerosis (SSc), but the pathogenesis of these findings is poorly understood. Vitamin D and parathyroid hormone (PTH) have a crucial role in bone metabolism and resorption and may affect AO and calcinosis. We assessed vitamin D and PTH in patients with SSc. Medical records of 134 consecutive patients with SSc (American College of Rheumatology criteria) followed at the rheumatology department during the years 2003-2006 were reviewed for clinical assessment, laboratory evaluation [including 25(OH) vitamin D, calcium, phosphorus, alkaline phosphatase, PTH, creatinine, and albumin]; imaging data confirming AO and/or calcinosis. Patients followed routinely at least once a year were included (81 patients). Of these, 60 patients' medical records were found to have complete, relevant clinical, laboratory, and radiographic imaging. Thirteen patients had diffuse disease and 47 limited disease - 51 women and 9 men, 44 Jews and 16 Arabs; mean age 55 +/- 14 years; disease duration 8 +/- 6 years. AO with or without calcinosis was observed in 42 patients (70%). Vitamin D deficiency was found in 46% of patients (16 out of 44 Jewish patients, 10 out of 16 Arab patients). PTH was elevated in 21.7% of patients. Significant correlations were observed between acroosteolysis and PTH (p = 0.015), calcinosis (p = 0.009), and disease duration (p = 0.008), and between PTH and vitamin D levels (p = 0.01). All patients had normal serum concentrations of calcium, phosphorus, magnesium, and albumin, and liver and kidney functions. In this group of Mediterranean patients with SSc, the incidence of vitamin D deficiency and secondary hyperparathyroidism was surprisingly high. This finding correlated with the occurrence of AO and calcinosis. Low levels of vitamin D may reflect silent malabsorption and might be a risk factor for secondary hyperparathyroidism and bone resorption. Traditional dress habits and low

  18. Basal ganglia calcification as a putative cause for cognitive decline

    Directory of Open Access Journals (Sweden)

    João Ricardo Mendes de Oliveira

    Full Text Available ABSTRACT Basal ganglia calcifications (BGC may be present in various medical conditions, such as infections, metabolic, psychiatric and neurological diseases, associated with different etiologies and clinical outcomes, including parkinsonism, psychosis, mood swings and dementia. A literature review was performed highlighting the main neuropsychological findings of BGC, with particular attention to clinical reports of cognitive decline. Neuroimaging studies combined with neuropsychological analysis show that some patients have shown progressive disturbances of selective attention, declarative memory and verbal perseveration. Therefore, the calcification process might represent a putative cause for dementia syndromes, suggesting a probable link among calcinosis, the aging process and eventually with neuronal death. The increasing number of reports available will foster a necessary discussion about cerebral calcinosis and its role in determining symptomatology in dementia patients

  19. Basal ganglia calcification as a putative cause for cognitive decline.

    Science.gov (United States)

    de Oliveira, João Ricardo Mendes; de Oliveira, Matheus Fernandes

    2013-01-01

    Basal ganglia calcifications (BGC) may be present in various medical conditions, such as infections, metabolic, psychiatric and neurological diseases, associated with different etiologies and clinical outcomes, including parkinsonism, psychosis, mood swings and dementia. A literature review was performed highlighting the main neuropsychological findings of BGC, with particular attention to clinical reports of cognitive decline. Neuroimaging studies combined with neuropsychological analysis show that some patients have shown progressive disturbances of selective attention, declarative memory and verbal perseveration. Therefore, the calcification process might represent a putative cause for dementia syndromes, suggesting a probable link among calcinosis, the aging process and eventually with neuronal death. The increasing number of reports available will foster a necessary discussion about cerebral calcinosis and its role in determining symptomatology in dementia patients.

  20. Ablation of the Galnt3 Gene Leads to Low-Circulating Intact Fibroblast Growth Factor 23 (Fgf23) Concentrations and Hyperphosphatemia Despite Increased Fgf23 Expression

    OpenAIRE

    Ichikawa, Shoji; Sorenson, Andrea H.; Austin, Anthony M.; Mackenzie, Donald S.; Fritz, Timothy A.; Moh, Akira; Hui, Siu L.; Econs, Michael J.

    2009-01-01

    Familial tumoral calcinosis is characterized by ectopic calcifications and hyperphosphatemia. The disease is caused by inactivating mutations in fibroblast growth factor 23 (FGF23), Klotho (KL), and uridine diphosphate-N-acetyl-α-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3). In vitro studies indicate that GALNT3 O-glycosylates a phosphaturic hormone, FGF23, and prevents its proteolytic processing, thereby allowing secretion of intact FGF23. In this study we generat...

  1. Genetic Rescue of Glycosylation-deficient Fgf23 in the Galnt3 Knockout Mouse

    OpenAIRE

    Ichikawa, Shoji; Gray, Amie K.; Padgett, Leah R.; Allen, Matthew R.; Clinkenbeard, Erica L.; Sarpa, Nicole M.; White, Kenneth E.; Econs, Michael J.

    2014-01-01

    Fibroblast growth factor 23 (FGF23) is a hormone that inhibits renal phosphate reabsorption and 1,25-dihydroxyvitamin D biosynthesis. The FGF23 subtilisin-like proprotein convertase recognition sequence (176RHTR179↓) is protected by O-glycosylation through ppGalNAc-T3 (GALNT3) activity. Thus, inactivating GALNT3 mutations render FGF23 susceptible to proteolysis, thereby reducing circulating intact hormone levels and leading to hyperphosphatemic familial tumoral calcinosis. To further delineat...

  2. Skin changes in chronic kidney disease

    Directory of Open Access Journals (Sweden)

    Joanna M. Przepiórka-Kosińska

    2017-04-01

    Full Text Available Chronic kidney disease causes skin changes which may sometimes be the first sign of kidney failure. Specific skin changes include acquired perforating dermatosis, porphyria cutanea tarda, pseudoporphyria, calcinosis and nephrogenic systemic fibrosis. The majority of patients present with cutaneous manifestations which are classified as non-specific, including xerosis, pruritus, pigmentation disturbances, nail plate abnormalities, uraemic frost and gynaecomastia. Treatment improving kidney function (dialysis therapy or kidney transplantation also leads to the resolution of skin lesions.

  3. Pituitary-dependent hyperadrenocorticism in a terrier dog: A case report

    OpenAIRE

    Mahdieh Rezaei; Sara Rostami; Mehdi Saberi; Dariush Vosugh

    2016-01-01

    We report a case of pituitary-dependent hyperadrenocorticism in a 10-year-old, female, terrier dog. The animal was admitted due to polyphagia, weight gain, polyuria, polydipsia, hair loss, exercise intolerance and panting at rest. On physical examination, abdominal distention, truncal and bilaterally symmetric alopecia, thin hypotonic skin, comedones, bruising, hyperpigmentation and calcinosis cutis on the dorsal midline were observed. Hematologic investigations showed stress l...

  4. Tumor-like calcifications with scleroderma

    International Nuclear Information System (INIS)

    Meyer, E.; Kulenkampff, H.A.; Kortenhaus, H.

    1987-01-01

    In patients with progressive scleroderma, interstitial calcifications are present to a varying extent. They are mostly located in the soft tissues of the fingers, resembling points, commas or dashes. They may also appear as 'calcinosis universalis' and reach a considerable size. Thus they mimic proliferative tumors. Scintigraphy, proving the existence of further calcifications can be helpful. We report the case of a female patient who presented with such a 'pseudotumor' of unusual size, site and extent in the lumbar region. (orig.) [de

  5. Thibierge-Weissenbach-Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kulke, H.; Schweisfurth, H.; Auer, I.O.; Braun, H.

    1982-03-01

    Progressive systemic sclerosis is a generalized disorder of connective tissue. Subcutaneous calcifications are localized chiefly in volar aspects of the terminal phalanges of the fingers and along the extensor surface of the forearms and in the olecranon bursae. The association between subcutaneous calcinosis and scleroderma has been known as the Thibierge-Weissenbach-Syndrome. Two cases of this disease are reported. Differential diagnostic aspects of roentgenological findings are characterized and discussed.

  6. Canine multiple cartilaginous exostoses: unusual manifestations and a review of the literature

    International Nuclear Information System (INIS)

    Jacobson, L.S.; Kirberger, R.M.

    1996-01-01

    Multiple cartilaginous exostoses were diagnosed in a two-year-old Great Dane and a four-month-old border collie. Clinically, the Great Dane showed only mild discomfort, while the border collie exhibited tetraparesis due to cervicothoracic compression. Unusual features in the Great Dane were exostoses that bridged physes, with progression after skeletal maturity. The border collie puppy's exostoses resembled tumoral calcinosis radiographically. Limb exostoses in this puppy often were para-articular, and most were not attached to the underlying bone. These features resembled metachondromatosis in humans. Analysis of previously reported cases of multiple cartilaginous exostoses indicated that the prognosis is guarded to poor

  7. Sonographic findings in primary diseases of renal pyramids

    International Nuclear Information System (INIS)

    Rao, B.K.

    1987-01-01

    Primary pathologic processes involving the renal pyramids such as papillary necrosis, drug-induced necrosis or calcinosis, cysts, neoplasms, and medullary nephrocalcinosis are rare. Thirty-four patients with primary renal pyramid diseases underwent US evaluation for altered morphology; a 5-MHz transducer was used. In 20 patients site-specific changes in the pyramid (e.g., papillary necrosis at the apex, small cysts at the base in medullary cystic disease, tubular calcification in MSK, corticomedullary hyperechogenicity in oxalosis) were noted on US. Sonographic delineation of the site and pattern of pathologic changes in the renal pyramid may help to identify specific diseases

  8. CYSTINURIA - A TEN-YEAR FOLLOW-UP OF THE PATIENTS

    Directory of Open Access Journals (Sweden)

    Anđelka Slavković

    2001-09-01

    Full Text Available In the period from 1991 to 2001 there were four patients followed up who suffered from cystinuria and cystine calcinosis. The therapy consisting of the cystine dilution in the urine by a great taking-in of liquids and the urine alkalization was combined with alphamercaptopropione glycine and captoprile that bind cystine as well as a respective diet. Alphamercaptopropione glycine leads to the reduction of the already-formed calculus and their easier treatment in the case of a possible need for extracorporeal lithotripsy (ESWEL. During the ten-year follow-up of a small series of patients there were no complications related to the medicament treatment.

  9. Tumoral calcinoses in bone scanning: A case study

    International Nuclear Information System (INIS)

    Cook, P.

    1998-01-01

    Full text: Tumoral calcinosis (TC) is a rare disorder characterised by hyperphosphateamia, normocalceamia and calcified para-articular masses as seen on X-ray. At present, an inborn error of phosphorous metabolism is accepted as the primary cause. Symptoms include pain, swelling, infection and single- or multi-focal lesions. Radionuclide imaging was recently described as the most reliable and simplest method for detection, localisation and assessment of the calcific masses. Bone scintigraphy may demonstrate unsuspected masses even when clinical examination is negative. It is also useful in assessing the effects of surgery and therapy. A 55-year-old male with an 18-year history of TC presented to our department on two occasions. He was first referred to assess the extent of his calcinosis. He had known involvement of the hands, shoulders and pelvis, with little restriction of movement. He had a 6-8 year history of polio which was currently stable. Seven years later he again presented to our department, this time for the evaluation of a suspected fractured hip. On both occasions 800 MBq of 99 mTc-MDP was injected IV and whole body and planar images were obtained at three hours. In the second study, additional dynamic and blood pool images were obtained over the anterior aspect of both hips. Both scans were grossly abnormal and typical of the appearance of widespread TC or calcinosis universalis. Multiple areas of extra osseous uptake involving subcutaneous tissue and muscle of the hands, para-articular regions of both elbows, shoulders and hips were seen and confirmed by X-ray. Localised abnormalities were noted involving left lower neck, left forearm and left foot. Marked progression of the disease was seen in the region of the left shoulder on the second scan. No abnormalities were noted within the skeleton itself. Neither the dynamic nor blood pool phase of the study demonstrated significant hyperaemia in the region of the left proximal femur. Although the second

  10. Tumoral calcinoses in bone scanning: A case study

    Energy Technology Data Exchange (ETDEWEB)

    Cook, P. [Royal Prince Alfred Hospital, Sydney, NSW (Australia). Department of Nuclear Medicine

    1998-03-01

    Full text: Tumoral calcinosis (TC) is a rare disorder characterised by hyperphosphateamia, normocalceamia and calcified para-articular masses as seen on X-ray. At present, an inborn error of phosphorous metabolism is accepted as the primary cause. Symptoms include pain, swelling, infection and single- or multi-focal lesions. Radionuclide imaging was recently described as the most reliable and simplest method for detection, localisation and assessment of the calcific masses. Bone scintigraphy may demonstrate unsuspected masses even when clinical examination is negative. It is also useful in assessing the effects of surgery and therapy. A 55-year-old male with an 18-year history of TC presented to our department on two occasions. He was first referred to assess the extent of his calcinosis. He had known involvement of the hands, shoulders and pelvis, with little restriction of movement. He had a 6-8 year history of polio which was currently stable. Seven years later he again presented to our department, this time for the evaluation of a suspected fractured hip. On both occasions 800 MBq of {sup 99}mTc-MDP was injected IV and whole body and planar images were obtained at three hours. In the second study, additional dynamic and blood pool images were obtained over the anterior aspect of both hips. Both scans were grossly abnormal and typical of the appearance of widespread TC or calcinosis universalis. Multiple areas of extra osseous uptake involving subcutaneous tissue and muscle of the hands, para-articular regions of both elbows, shoulders and hips were seen and confirmed by X-ray. Localised abnormalities were noted involving left lower neck, left forearm and left foot. Marked progression of the disease was seen in the region of the left shoulder on the second scan. No abnormalities were noted within the skeleton itself. Neither the dynamic nor blood pool phase of the study demonstrated significant hyperaemia in the region of the left proximal femur. Although the

  11. Identification and determination of D3 vitamine, D3 vitamine 25 (OH) and D3 vitamine 1,25(OH)2 in plasma of animals treated with solanum glaucophyllum (Sg)

    International Nuclear Information System (INIS)

    Pawlak, Eva

    1997-01-01

    The enzootic calcinosis is a disease produced in the bovines by the ingestion of the toxic plant Sg, which contains vitamine D 3 glycosides and its active metabolites. This disease is characterized by the loss of weight and physical condition, motor disorders and alteration of phosphocalcic metabolism with deposition of calcium compounds in soft tissues. To contribute to the advanced diagnostic of the disease, analytic techniques to determine D vitamine, D vitamine 25 (OH) and D vitamine 1,25 (OH) 2 in plasma, by high resolution liquid chromatography and radio receptor essay are used

  12. Digital ulcers and cutaneous subsets of systemic sclerosis: Clinical, immunological, nailfold capillaroscopy, and survival differences in the Spanish RESCLE Registry.

    Science.gov (United States)

    Tolosa-Vilella, Carles; Morera-Morales, Maria Lluisa; Simeón-Aznar, Carmen Pilar; Marí-Alfonso, Begoña; Colunga-Arguelles, Dolores; Callejas Rubio, José Luis; Rubio-Rivas, Manuel; Freire-Dapena, Maika; Guillén-Del Castillo, Alfredo; Iniesta-Arandia, Nerea; Castillo-Palma, Maria Jesús; Egurbide-Arberas, Marivi; Trapiellla-Martínez, Luis; Vargas-Hitos, José A; Todolí-Parra, José Antonio; Rodriguez-Carballeira, Mónica; Marin-Ballvé, Adela; Pla-Salas, Xavier; Rios-Blanco, Juan José; Fonollosa-Pla, Vicent

    2016-10-01

    Digital ulcers (DU) are the most common vascular complication of systemic sclerosis (SSc). We compared the characteristics between patients with prior or current DU with those never affected and evaluated whether a history of DU may be a predictor of vascular, organ involvement, and/or death in patients with SSc. Data from SSc patients with or without prior or current DU were collected by 19 referral centers in an ongoing registry of Spanish SSc patients, named Registro de ESCLErodermia (RESCLE). Demographics, organ involvement, autoimmunity features, nailfold capillary pattern, survival time, and causes of death were analyzed to identify DU related characteristics and survival of the entire series and according to the following cutaneous subsets-diffuse cutaneous SSc (dcSSc), limited cutaneous SSc (lcSSc), and SSc sine scleroderma (ssSSc). Out of 1326, 552 patients enrolled in the RESCLE registry had prior or current DU, 88% were women, the mean age was 50 ± 16 years, and the mean disease duration from first SSc symptom was 7.6 ± 9.6 years. Many significant differences were observed in the univariate analysis between patients with and without prior/current DU. Multivariate analysis identified that history of prior/current DU in patients with SSc was independently associated to younger age at SSc diagnosis, diffuse cutaneous SSc, peripheral vascular manifestations such Raynaud's phenomenon, telangiectasia, and acro-osteolysis but no other vascular features such as pulmonary arterial hypertension or scleroderma renal crisis. DU was also associated to calcinosis cutis, interstitial lung disease, as well as worse survival. Multivariate analysis performed in the cutaneous subsets showed that prior/current DU were independently associated: (1) in dcSSc, to younger age at SSc diagnosis, presence of telangiectasia and calcinosis and rarely a non-SSc pattern on nailfold capillaroscopy; (2) in lcSSc, to younger age at SSc diagnosis, presence of Raynaud's phenomenon as

  13. Tumor-like calcifications with scleroderma. Thibierge-Weissenbach-Syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Meyer, E.; Kulenkampff, H.A.; Kortenhaus, H.

    1987-12-01

    In patients with progressive scleroderma, interstitial calcifications are present to a varying extent. They are mostly located in the soft tissues of the fingers, resembling points, commas or dashes. They may also appear as 'calcinosis universalis' and reach a considerable size. Thus they mimic proliferative tumors. Scintigraphy, proving the existence of further calcifications can be helpful. We report the case of a female patient who presented with such a 'pseudotumor' of unusual size, site and extent in the lumbar region.

  14. Radiology of the hand in progressive systemic sclerosis

    Energy Technology Data Exchange (ETDEWEB)

    Scutellari, P N; Orzincolo, C; Delli Gatti, I. and others

    1986-01-01

    Radiographs and xerographs of the hands of 35 patients with progressive systematic sclerosis (PSS), as defined by the ARA, were reviewed. Patients with ''overlap'' syndromes (i.e., mixed connective tissue disease, systemic lupus erythematosus or rheumatoid arthritis) have been excluded. Soft tissue changes included atrophy (hidebound skin), and dystrophic calcifications, particularly in CREST patients (calcinosis, Raynaud phenomenon, esophageal dysmobility, sclerodactily and telangectasia). The most common bony change is resorption of distal phalanges; diffuse osteoporosis is also frequent; the distal interphalangeal and first carpometacarpal joints involvement appear as a distinctive feature of this e....

  15. Watermelon-stomach og sklerodermi

    DEFF Research Database (Denmark)

    Diederichsen, Axel Cosmus Pyndt; Rasmussen, Jens Møller

    2002-01-01

    We report here a 72-year-old man with severe, persistent, iron deficiency anaemia. Upper gastrointestinal endoscopy revealed red stripes radiating to the pylorus, characteristic of watermelon stomach (gastric antral vascular ectasia). The patient was found to have scleroderma with calcinosis......, sclerodactyly, and telangiectasias, but neither Raynaud's phenomenon nor oesophageal dysmotility. The patient was treated with endoscopic Argon laser therapy, repeated six times, but this did not control the bleeding. Altogether the patient received 62 units of blood transfusions. The patient died after 9...

  16. Ablation of the Galnt3 gene leads to low-circulating intact fibroblast growth factor 23 (Fgf23) concentrations and hyperphosphatemia despite increased Fgf23 expression.

    Science.gov (United States)

    Ichikawa, Shoji; Sorenson, Andrea H; Austin, Anthony M; Mackenzie, Donald S; Fritz, Timothy A; Moh, Akira; Hui, Siu L; Econs, Michael J

    2009-06-01

    Familial tumoral calcinosis is characterized by ectopic calcifications and hyperphosphatemia. The disease is caused by inactivating mutations in fibroblast growth factor 23 (FGF23), Klotho (KL), and uridine diphosphate-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GALNT3). In vitro studies indicate that GALNT3 O-glycosylates a phosphaturic hormone, FGF23, and prevents its proteolytic processing, thereby allowing secretion of intact FGF23. In this study we generated mice lacking the Galnt3 gene, which developed hyperphosphatemia without apparent calcifications. In response to hyperphosphatemia, Galnt3-deficient mice had markedly increased Fgf23 expression in bone. However, compared with wild-type and heterozygous littermates, homozygous mice had only about half of circulating intact Fgf23 levels and higher levels of C-terminal Fgf23 fragments in bone. Galnt3-deficient mice also exhibited an inappropriately normal 1,25-dihydroxyvitamin D level and decreased alkaline phosphatase activity. Furthermore, renal expression of sodium-phosphate cotransporters and Kl were elevated in Galnt3-deficient mice. Interestingly, there were sex-specific phenotypes; only Galnt3-deficient males showed growth retardation, infertility, and significantly increased bone mineral density. In summary, ablation of Galnt3 impaired secretion of intact Fgf23, leading to decreased circulating Fgf23 and hyperphosphatemia, despite increased Fgf23 expression. Our findings indicate that Galnt3-deficient mice have a biochemical phenotype of tumoral calcinosis and provide in vivo evidence that Galnt3 plays an essential role in proper secretion of Fgf23 in mice.

  17. Radiographic changes of the distal phalangeal tuft of the hands in subjects with systemic sclerosis. Systematic review.

    Science.gov (United States)

    Izquierdo, Yojhan Edilberto; Calvo Páramo, Enrique; Castañeda, Luisa María; Gómez, Sandra Viviana; Zambrano, Fernán Santiago

    To determine abnormal plain radiograph findings of the distal phalanx tuft of the hand (DPTH) associated with systemic sclerosis in adults. A systematic review was developed following the parameters of the PRISMA guidelines in databases: MEDLINE, EMBASE, BIREME, Scielo, Google Scholar and others including as primary outcomes alterations of DPTH (erosions, resorption, sclerosis and proliferation) detected by simple radiography in subjects with systemic sclerosis. The prevalence of radiographic findings was synthesized using the fixed effects model. The statistical associations were expressed in terms of relative risk or odds ratio with their respective confidence intervals and p values. Twenty-two observational studies were included; the prevalence of DPTH resorption was 28.3% (95% CI: 0.256-0.312; p < .001); I 2 =80.4%, the prevalence of calcinosis was 15.6% (95% CI: 0.113-0.210; p < .001); I 2 =0%. No study reported proliferation or erosions and only one study described sclerosis of DPTH in 5 individuals. Resorption and calcinosis of DPTH are the characteristic radiographic findings in patients with systemic sclerosis. However, new studies with greater methodological strength are needed to establish associations between these phenomena and their presence in other connective tissue diseases. Copyright © 2016 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  18. Pulsed vs. CW low level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome)

    Science.gov (United States)

    Barolet, Daniel

    2012-03-01

    Limited cutaneous systemic sclerosis (lcSSc) was formerly known as CREST syndrome in reference to the associated clinical features: Calcinosis, Raynaud's phenomenon, Esophageal dysfunction, Sclerodactyly, and Telangiectasias. The transforming growth factor beta (TGF-β) has been identified has a major player in the pathogenic process, while low level light therapy (LLLT) has been shown to modulate this cytokine superfamily. This case study was conducted to assess the efficacy of 940nm using microsecond domain pulsing and continuous wave mode (CW) on osteoarticular signs and symptoms associated with lcSSc. The patient was treated two to three times a week for 13 weeks, using a sequential pulsing mode on one elbow, and a CW mode on the other. Efficacy assessments included inflammation, symptoms, pain, and health scales, patient satisfaction, clinical global impression, and adverse effects monitoring. Significant functional and morphologic improvements were observed after LLLT, with best results seen with the pulsing mode. No significant adverse effects were noted. Two mechanisms of action may be at play. The 940nm wavelength provides inside-out heating possibly vasodilating capillaries which in turn increases catabolic processes leading to a reduction of in situ calcinosis. LLLT may also improve symptoms by triggering a cascade of cellular reactions, including the modulation of inflammatory mediators.

  19. Cryoglobulinemic vasculitis in a patient with CREST syndrome.

    Science.gov (United States)

    Hurst, Rebecca L; Berianu, Florentina; Ginsburg, William W; Klein, Christopher J; Englestad, Janean K; Kennelly, Kathleen D

    2014-10-01

    Cryoglobulinemic vasculitis is a rare entity. Although it has been reported in diffuse systemic sclerosis, it has not been reported in calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia (CREST) syndrome. We report a patient with cryoglobulinemic vasculitis with CREST syndrome who did not have typical clinical features of vasculitis. This 58-year-old woman presented with mild generalized weakness and a diagnosis of CREST syndrome, which included Raynaud's syndrome, dysphagia and telangiectasias. She was positive for serum cryoglobulins, which led to a sural nerve biopsy. The biopsy results were consistent with cryoglobulinemic vasculitis. Cryoglobulinemic vasculitis has not been previously reported in CREST syndrome to our knowledge. Additionally, the patient also had limited clinical symptoms. Our patient displays the importance of checking for cryoglobulins and obtaining a nerve biopsy when the serum is positive. Both of these diagnostic tests were integral for directing appropriate treatment for this patient. Copyright © 2014 Elsevier Ltd. All rights reserved.

  20. Fibroblast Growth Factor 23 (FGF23 and Disorders of Phosphate Metabolism

    Directory of Open Access Journals (Sweden)

    Tasuku Saito

    2009-01-01

    Full Text Available Derangements in serum phosphate level result in rickets/osteomalacia or ectopic calcification indicating that healthy people without these abnormalities maintain serum phosphate within certain ranges. These results indicate that there must be a regulatory mechanism of serum phosphate level. Fibroblast growth factor 23 (FGF23 was identified as the last member of FGF family. FGF23 is produced by bone and reduces serum phosphate level by suppressing phosphate reabsorption in proximal tubules and intestinal phosphate absorption through lowering 1,25-dihydroxyvitamin D level. It has been shown that excess and deficient actions of FGF23 result in hypophosphatemic rickets/osteomalacia and hyperphosphatemic tumoral calcinosis, respectively. These results indicate that FGF23 works as a hormone, and several disorders of phosphate metabolism can be viewed as endocrine diseases. It may become possible to treat patients with abnormal phosphate metabolism by pharmacologically modifying the activity of FGF23.

  1. Forty years abuse of baking soda, rhabdomyolysis, glomerulonephritis, hypertension leading to renal failure: a case report.

    Science.gov (United States)

    Forslund, Terje; Koistinen, Arvo; Anttinen, Jorma; Wagner, Bodo; Miettinen, Marja

    2008-01-01

    We present a patient who had ingested sodium bicarbonate for treatment of alcoholic dyspepsia during forty years at increasing doses. During the last year he had used more than 50 grams daily. He presented with metabolic alkalosis, epileptic convulsions, subdural hematoma, hypertension and rhabdomyolysis with end stage renal failure, for which he had to be given regular intermittent hemodialysis treatment. Untreated hypertension and glomerulonephritis was probably present prior to all these acute incidents. Examination of the kidney biopsy revealed mesangial proliferative glomerulonephritis and arterial wall thickening causing nephrosclerosis together with interstitial calcinosis. The combination of all these pathologic changes might be responsible for the development of progressive chronic renal failure ending up with the need for continuous intermittent hemodialysis treatment.

  2. Idiopathic infantile arterial calcification in a 12-year-old girl presenting as chronic mesenteric ischemia: imaging findings and angioplasty results

    International Nuclear Information System (INIS)

    Zhang, Edwin; Owen, Richard; Bruce, Garth; Wiebe, Sheldon

    2011-01-01

    We report an unusual case of chronic mesenteric ischemia presenting in a 12-year-old girl with idiopathic infantile arterial calcinosis (IIAC). This is the first reported case in the literature of chronic mesenteric ischemia in the setting of IIAC. The girl presented with a classical history of postprandial abdominal pain. Imaging demonstrated significant stenoses of the celiac axis, superior mesenteric artery (SMA) and inferior mesenteric artery (IMA). Angioplasty of the celiac axis and SMA was attempted, with successful dilation of the SMA only. At 3-, 6- and 12-month follow-ups, the child's symptoms had almost resolved. This case report has three important ramifications: chronic mesenteric ischemia is a possible clinical presentation in children with IACC, pre-angioplasty imaging is important in guiding treatment approach, and angioplasty was effective in this case of chronic mesenteric ischemia and offers hope for other similarly affected children. (orig.)

  3. Forty Years Abuse of Baking Soda, Rhabdomyolysis, Glomerulonephritis, Hypertension Leading to Renal Failure: A Case Report

    Directory of Open Access Journals (Sweden)

    Terje Forslund M.D., Ph.D.

    2008-01-01

    Full Text Available We present a patient who had ingested sodium bicarbonate for treatment of alcoholic dyspepsia during forty years at increasing doses. During the last year he had used more than 50 grams daily. He presented with metabolic alkalosis, epileptic convulsions, subdural hematoma, hypertension and rhabdomyolysis with end stage renal failure, for which he had to be given regular intermittent hemodialysis treatment. Untreated hypertension and glomerulonephritis was probably present prior to all these acute incidents. Examination of the kidney biopsy revealed mesangial proliferative glomerulonephritis and arterial wall thickening causing nephrosclerosis together with interstitial calcinosis. The combination of all these pathologic changes might be responsible for the development of progressive chronic renal failure ending up with the need for continuous intermittent hemodialysis treatment.

  4. Imaging of connective tissue diseases of the head and neck

    Science.gov (United States)

    2016-01-01

    We review the imaging appearance of connective tissue diseases of the head and neck. Bilateral sialadenitis and dacryoadenitis are seen in Sjögren’s syndrome; ankylosis of the temporo-mandibular joint with sclerosis of the crico-arytenoid joint are reported in rheumatoid arthritis and lupus panniculitis with atypical infection are reported in patients with systemic lupus erythematosus. Relapsing polychondritis shows subglottic stenosis, prominent ear and saddle nose; progressive systemic sclerosis shows osteolysis of the mandible, fibrosis of the masseter muscle with calcinosis of the subcutaneous tissue and dermatomyositis/polymyositis shows condylar erosions and autoimmune thyroiditis. Vascular thrombosis is reported in antiphospholipid antibodies syndrome; cervical lymphadenopathy is seen in adult-onset Still’s disease, and neuropathy with thyroiditis reported in mixed connective tissue disorder. Imaging is important to detect associated malignancy with connective tissue disorders. Correlation of the imaging findings with demographic data and clinical findings are important for the diagnosis of connective tissue disorders. PMID:26988082

  5. Prevalência de achados cutâneos em portadores de esclerose sistêmica: experiência de um hospital universitário Prevalence of cutaneous findings in systemic sclerosis patients: experience of a teaching hospital

    Directory of Open Access Journals (Sweden)

    Fernanda Guidolin

    2005-10-01

    Full Text Available FUNDAMENTOS: A esclerose sistêmica é colagenose pouco comum e muito rica em manifestações cutâneas. OBJETIVO: Estudar a prevalência das manifestações cutâneas na esclerose sistêmica em geral e nos seus diferentes subtipos (formas limitada, generalizada e mista. MÉTODOS: Analisaram-se 32 pacientes de esclerose sistêmica (20 com forma limitada, oito com generalizada e quatro com forma mista quanto à esclerose de pele, fenômeno de Raynaud, cicatrizes estelares, telangiectasias, leucomelanodermia, microstomia, calcinose e prurido. RESULTADOS: Encontraram-se esclerose de pele e fenômeno de Raynaud em 100% dos pacientes; cicatrizes estelares em 65,6%; telangiectasias em 43,7%; leucomelanodermia em 43,7%; microstomia em 31,25%; prurido em 28,1% e calcinose em 12,5%. Não se observaram diferenças entre as formas localizada e difusa da doença, sendo p = 1 para cicatrizes estelares; p = 0,69 para telangiectasias; p = 0,22 para microstomia, p = 1 para calcinose e prurido. A forma mista de doença não diferiu das formas isoladas (limitada e difusa quanto aos mesmos achados. CONCLUSÕES: As manifestações mais comuns na esclerose sistêmica são a esclerose de pele e o fenômeno de Raynaud, e a mais rara é a calcinose. As três formas apresentam freqüências semelhantes de Raynaud, cicatrizes estelares, microstomia, telangiectasia, calcinose e prurido.BACKGROUND: Systemic sclerosis or scleroderma is a rare collagen disease presenting several cutaneous manifestations. OBJECTIVE: To study the prevalence of cutaneous manifestations in systemic sclerosis and its subtypes (limited form, diffuse form and overlap syndrome. METHODS: We studied 32 patients with scleroderma (20 with the limited form; 8 with the diffuse form and 4 with overlap syndrome considering skin sclerosis, Raynaud's phenomenon, digital scars, telangiectasia, leucomelanoderma (pigmentary changes, microstomy, calcinosis and pruritus. RESULTS: We found skin sclerosis and

  6. Pituitary-dependent hyperadrenocorticism in a terrier dog: A case report

    Directory of Open Access Journals (Sweden)

    Mahdieh Rezaei

    2016-06-01

    Full Text Available We report a case of pituitary-dependent hyperadrenocorticism in a 10-year-old, female, terrier dog. The animal was admitted due to polyphagia, weight gain, polyuria, polydipsia, hair loss, exercise intolerance and panting at rest. On physical examination, abdominal distention, truncal and bilaterally symmetric alopecia, thin hypotonic skin, comedones, bruising, hyperpigmentation and calcinosis cutis on the dorsal midline were observed. Hematologic investigations showed stress leukogram, high serum alkaline phosphatase activity, mild to moderate alanine aminotransferase activity, hypercholesterolemia, hypertriglyceridemia and hyperglycemia. Mild generalized interstitial lung patterns and hepatomegaly were detected in the radiographs. Bilaterally symmetric normal-sized adrenal glands were also diagnosed in ultrasonography. Diagnosis of pituitary-dependent hyperadrenocorticism was confirmed with low-dose dexamethasone suppression test. The dog was successfully treated with mitotane.

  7. Hypoparathyroidism Causing Seizures: When Epilepsy Does Not Fit

    Directory of Open Access Journals (Sweden)

    Faheem Seedat

    2018-01-01

    Full Text Available A 24-year-old man presented to the Chris Hani Baragwanath Academic Hospital emergency department with recurrent seizures having previously been diagnosed with epilepsy from age 14. The biochemical investigations and brain imaging were suggestive of seizures secondary to hypocalcemia, and a diagnosis of idiopathic hypoparathyroidism was confirmed. After calcium and vitamin D replacement, the patient recovered well and is seizure free, and off antiepileptic therapy. This case highlights the occurrence of brain calcinosis in idiopathic hypoparathyroidism; the occurrence of acute symptomatic seizures due to provoking factors other than epilepsy; and the importance, in the correct clinical setting, of considering alternative, and sometimes treatable, causes of seizures other than epilepsy.

  8. Idiopathic infantile arterial calcification in a 12-year-old girl presenting as chronic mesenteric ischemia: imaging findings and angioplasty results

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Edwin; Owen, Richard [University of Alberta, Department of Radiology and Diagnostic Imaging, Edmonton (Canada); Bruce, Garth [University of Saskatchewan, Department of Pediatrics, Royal University Hospital, Saskatoon (Canada); Wiebe, Sheldon [University of Saskatchewan, Department of Medical Imaging, Royal University Hospital, Saskatoon (Canada)

    2011-11-15

    We report an unusual case of chronic mesenteric ischemia presenting in a 12-year-old girl with idiopathic infantile arterial calcinosis (IIAC). This is the first reported case in the literature of chronic mesenteric ischemia in the setting of IIAC. The girl presented with a classical history of postprandial abdominal pain. Imaging demonstrated significant stenoses of the celiac axis, superior mesenteric artery (SMA) and inferior mesenteric artery (IMA). Angioplasty of the celiac axis and SMA was attempted, with successful dilation of the SMA only. At 3-, 6- and 12-month follow-ups, the child's symptoms had almost resolved. This case report has three important ramifications: chronic mesenteric ischemia is a possible clinical presentation in children with IACC, pre-angioplasty imaging is important in guiding treatment approach, and angioplasty was effective in this case of chronic mesenteric ischemia and offers hope for other similarly affected children. (orig.)

  9. Radiodiagnosis of hemophiliac bone pseudotumors

    International Nuclear Information System (INIS)

    Fedorov, V.V.; Chantseva, E.A.

    1992-01-01

    Of 259 hemophiliacs bone pseudotumors were diagnosed in 11 (4.3 %); they were localised in the femur (6 cases), calcaneus (4) and in the iliac bone (3). Two cases of combined fermoral and calcaneal lesions and 4 cases of bone fracture were observed. As a rule, pseudotumors developed in hemophiliacs with severe disease. An x-ray picture of a pseudotumor depended on its site and was characterized by a large soft tissue tumor shadow, often with calcinosis, and serious destructive changes in bones in the form or round foci of 7 cm in diameter with clear-cut contours. An adge defect of the cortical layer was defined in the diaphysis of the femoral bone (15 cm long). Destructive changes were often accompanied by osteosclerosis and periostitis

  10. Medical image of the week: CREST plus ILD

    Directory of Open Access Journals (Sweden)

    Oliva I

    2013-06-01

    Full Text Available A 60 year old female with a history of fibromyalgia presented with dyspnea and skin changes, predominantly on the hands. Physical exam and imaging showed classic findings of limited cutaneous systemic sclerosis (scleroderma CREST syndrome. Calcinosis cutis (Figure 1A, Raynaud’s (not shown but endorsed by the patient, Esophageal dysmotility (Figure 1B, dilated esophagus, Sclerodactyly (Figure 1C, and Teleganectasias (Figure 1D were all present. Ground glass opacities were seen predominantly in the bilateral lower lung zones, associated with increased reticular markings (Figure 2A, and traction bronchiectasis (Figure 2B. Pulmonary involvement is noted in the majority of scleroderma patients. Interstitial lung disease (ILD is common and often portends a poor prognosis.

  11. Lower limb ischaemia in patients with diabetic foot ulcers and gangrene: recognition, anatomic patterns and revascularization strategies.

    Science.gov (United States)

    Mills, Joseph L

    2016-01-01

    The confluence of several chronic conditions--in particular ageing, peripheral artery disease, diabetes, and chronic kidney disease--has created a global wave of lower limbs at risk for major amputation. While frequently asymptomatic or not lifestyle limiting, at least 1% of the population has peripheral artery disease of sufficient severity to be limb threatening. To avoid the critical error of failing to diagnose ischaemia, all patients with diabetic foot ulcers and gangrene should routinely undergo physiologic evaluation of foot perfusion. Ankle brachial index is useful when measurable, but may be falsely elevated or not obtainable in as many as 30% of patients with diabetic foot ulcers primarily because of medial calcinosis. Toe pressures and skin perfusion pressures are applicable to such patients. Copyright © 2016 John Wiley & Sons, Ltd.

  12. X-ray picture of the heart turn in echocardiographic diagnosis of rheumatic heart disease

    International Nuclear Information System (INIS)

    Grishkevich, A.M.; Goryanina, N.K.

    1986-01-01

    The paper is concerned with X-ray and echocardiographic investigation of the heart in 461 patients with mitral-tricuspidal disease. In 377 (82%) cases a turn of the heart along the longitudinal axis (counter clockwise) to the left and back was revealed. X-ray recognition of the heart turn made it possible to set an echocardiographic sensor to spot some of the cardiac cavities, interventricular septum and valvular apparatus. The correct setting of the echocardiographic sensor resulted in the determination of true sizes of each cardiac cavity, diagnosis of the nature of each valvular lesion and the recognition of such complications of rheumatic heart diseases as valvular calcinosis, left atrial thrombosis and disorder of myocardial contractility

  13. A Systematic Study of Site-specific GalNAc-type O-Glycosylation Modulating Proprotein Convertase Processing

    DEFF Research Database (Denmark)

    Schjoldager, Katrine Ter-Borch Gram; Vester-Christensen, Malene B.; Goth, Christoffer K.

    2011-01-01

    Site-specific GalNAc-type O-glycosylation is emerging as an important co-regulator of proprotein convertase (PC) processing of proteins. PC processing is crucial in regulating many fundamental biological pathways and O-glycans in or immediately adjacent to processing sites may affect recognition...... and function of PCs. Thus, we previously demonstrated that deficiency in site-specific O-glycosylation in a PC site of the fibroblast growth factor, FGF23, resulted in marked reduction in secretion of active unprocessed FGF23, which cause familial tumoral calcinosis and hyperostosis hyperphosphatemia. GalNAc......-type O-glycosylation is found on serine and threonine amino acids and up to 20 distinct polypeptide GalNAc transferases catalyze the first addition of GalNAc to proteins making this step the most complex and differentially regulated steps in protein glycosylation. There is no reliable prediction model...

  14. Effectiveness and safety of oxycodone/naloxone in the management of chronic pain in patients with systemic sclerosis with recurrent digital ulcers: two case reports

    Directory of Open Access Journals (Sweden)

    Ughi N

    2016-03-01

    Full Text Available Nicola Ughi, Chiara Crotti, Francesca Ingegnoli Division of Rheumatology, Department of Clinical Sciences and Community Health, Gaetano Pini Institute, The University of Milan, Milan, Italy Abstract: Digital ulcers (DUs are a severe and frequent clinical feature of patients with systemic sclerosis (SSc. The presence of DUs may cause severe pain and often lead to impairment of patient’s functional activities and health-related quality of life. Moreover, poor patient cooperation during the wound care procedure due to pain may be associated with a negative outcome of DU healing. Therefore, pain management has a key role in patients with SSc. These two case reports describe the effectiveness and safety of oxycodone/naloxone in patients with SSc complicated by painful chronic DUs. Such a therapy has provided pain relief and consequently an increased compliance during redressing wounds. Keywords: oxycodone, naloxone, systemic sclerosis, pain, digital ulcer, scleroderma, analgaesia, wound healing, opioids, calcinosis, UCLA-SCTC GIT 2.0

  15. A STUDY OF MUCOCUTANEOUS MANIFESTATIONS IN AUTOIMMUNE CONNECTIVE TISSUE DISORDERS AT TERTIARY CARE CENTRE

    Directory of Open Access Journals (Sweden)

    Manisha Jethwa

    2017-06-01

    Full Text Available BACKGROUND Our aim was to study the clinical and immunological profile of patients with newly detected connective tissue disease presented to a tertiary care centre. MATERIALS AND METHODS The study involved 51 patients with newly-detected Systemic Lupus Erythematosus (SLE (fulfilling the revise SLICC criteria for SLE and Systemic Sclerosis (SS, Mixed Connective Tissue Disease (MCTD, etc. attending Sir. T. Hospital, Bhavnagar, between January 2013 and December 2016. All patients were assessed for clinical features and immunological profile. RESULTS Out of the 51 patients, 30 having SLE, 10 having SS, 9 with MCTD, 1 with dermatomyositis and 1 with Rowell’s syndrome. Among them, 47 were females and 4 were males. The mean age at presentation was between 15-25 years. The LE-specific skin lesions were noted as malar rash in 25 patients (83%, subacute and acute lupus rashes (80% and discoid rash (13%. Among LE-nonspecific lesions, non-scarring alopecia was most common followed by oral ulcers, Raynaud’s phenomenon, joint pain, scarring alopecia, erythema multiforme, livedo reticularis, vasculitic lesions, urticaria and calcinosis cutis were seen. In MCTD, muscle weakness was common finding. In systemic sclerosis, hide-bound skin and decreases mouth opening were seen in all cases and Raynaud’s phenomenon, joint pain, hair loss, calcinosis cutis and respiratory system involvement were other features. Serum ANA was positive in 76% while negative in 3.8% of individuals. The most common pattern observed in ANA profile was speckled (56% followed by homogenous (32% and nucleolar (28%. CONCLUSION There is diversity in clinical presentation of autoimmune connective tissue disease with regards to their genetic and environmental backgrounds. Cutaneous features are utmost important having diagnostic and prognostic value as well.

  16. Application of Color Doppler Ultrasound in Renal Medullary Calcium%彩色多普勒超声在肾髓质钙质沉着症中的应用分析

    Institute of Scientific and Technical Information of China (English)

    金丽梅

    2016-01-01

    目的:分析彩色多普勒超声在肾髓质钙沉着症中的应用价值。方法回顾性分析2011—2015年期间在该院行彩色多普勒超声诊断肾髓质钙沉着症的68例患者的临床资料,观察患者的超声诊断特点以及血流动力学改变。结果68例行彩色多普勒超声诊断肾髓质钙沉着症的患者中,诊断阳性共65例,阴性3例,诊断的准确率为95.6%,65例肾髓质钙沉着症患者中包括皮质型30例,髓质型32例,混合型3例,患者的两侧肾脏大小正常,形态对称,包膜光滑,皮质和髓质界限较为清楚,肾脏的皮质厚度和回声均正常,在患者的髓质内,有密集点状的强回声,形态和椎体的形态基本一致,有一侧有弱声影。结论彩色多普勒超声在肾髓质钙沉着症中应用,准确率较高,可以有效的显示内部的形态、血流变化等指标,具有重要的临床诊断价值。%Objective To analyze the value of color Doppler ultrasound in the renal medulla of calcium applications. Methods Convenient selection a retrospective analysis of clinical data by color Doppler ultrasound diagnosis of renal medullary calcinosis disease 68 patients were retrospectively analyzed the period from 2011 to 2015, observed in patients with ultrasonic diagnostic characteristics and hemodynamic change. Results 68 patients with routine color Doppler ultra-sound diagnosis of renal medullary calcinosis disease, the diagnosis of a total of65 positive cases, negative in 3 cases, the diagnostic accuracy was 95.6%, 65 cases of renal medullary calcinosis patients included cortical 30 cases, 32 cases of medullary, mixed three cases, both sides of the patient's normal kidney size, shape symmetry, smooth coated, cortex and medulla boundaries more clearly, renal cortical thickness and echo were normal in patients within the medulla, a strong e-cho dense point-like, form and shape of the vertebral body are basically the same, there is one

  17. Does nailfold capillaroscopy help predict future outcomes in systemic sclerosis? A systematic literature review.

    Science.gov (United States)

    Paxton, Dolcie; Pauling, John D

    2018-02-14

    Nailfold capillaroscopy (NC) is an important diagnostic tool in systemic sclerosis (SSc). Confirmation of NC as a prognostic factor could facilitate earlier intervention and slow disease progression in SSc. We undertook a systematic literature review to evaluate the prognostic value of NC in predicting SSc disease progression. Standardised searches of EMBASE and MEDLINE were undertaken to identify longitudinal studies of adult subjects with SSc reporting the prognostic value of NC for any aspect of disease progression and/or survival. Non-English, non-original research, animal studies, non-adult studies and non-full length reports were excluded from the analysis (PROSPERO 2017:CRD42017071719). Wide heterogeneity in study design, prognostic factor measurement and study outcomes necessitated a qualitative data synthesis. The "QUality In Prognosis Studies" (QUIPS) risk-of-bias tool was used to assess study quality. Study selection, data extraction and risk-of-bias assessment were each undertaken independently by 2 reviewers and consensus reached where necessary. Of 942 retrieved articles, 18 studies fulfilled the inclusion criteria. The majority of studies (17/18, 94%) reported positive associations between baseline NC appearances (using a variety of qualitative, semi-quantitative and quantitative NC endpoints) and clinical outcomes including digital ulcer (DU) occurrence/healing, survival, disease progression (using domains of Medsger disease severity scale), calcinosis, skin progression, pulmonary arterial hypertension (PAH), and/or a composite analysis of "cardiovascular events". Application of the QUIPS tool identified a moderate-high risk of potential bias in 6/18 studies for study participation, 3/18 studies for study attrition, 10/18 for prognostic factor measurement, 5/18 for outcome measurement, 13/18 for confounders and 13/18 for statistical analyses. Study quality limited the strength of the conclusions drawn from these studies. The most important source of

  18. Genetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse.

    Science.gov (United States)

    Ichikawa, Shoji; Gray, Amie K; Padgett, Leah R; Allen, Matthew R; Clinkenbeard, Erica L; Sarpa, Nicole M; White, Kenneth E; Econs, Michael J

    2014-10-01

    Fibroblast growth factor 23 (FGF23) is a hormone that inhibits renal phosphate reabsorption and 1,25-dihydroxyvitamin D biosynthesis. The FGF23 subtilisin-like proprotein convertase recognition sequence ((176)RHTR(179)↓) is protected by O-glycosylation through ppGalNAc-T3 (GALNT3) activity. Thus, inactivating GALNT3 mutations render FGF23 susceptible to proteolysis, thereby reducing circulating intact hormone levels and leading to hyperphosphatemic familial tumoral calcinosis. To further delineate the role of glycosylation in the Fgf23 function, we generated an inducible FGF23 transgenic mouse expressing human mutant FGF23 (R176Q and R179Q) found in patients with autosomal dominant hypophosphatemic rickets (ADHR) and bred this animal to Galnt3 knockout mice, a model of familial tumoral calcinosis. Due to the low intact Fgf23 level, Galnt3 knockout mice with wild-type Fgf23 alleles were hyperphosphatemic. In contrast, carriers of the mutant FGF23 transgene, regardless of Galnt3 mutation status, had significantly higher serum intact FGF23, resulting in severe hypophosphatemia. Importantly, serum phosphorus and FGF23 were comparable between transgenic mice with or without normal Galnt3 alleles. To determine whether the presence of the ADHR mutation could improve biochemical and skeletal abnormalities in Galnt3-null mice, these mice were also mated to Fgf23 knock-in mice, carrying heterozygous or homozygous R176Q ADHR Fgf23 mutations. The knock-in mice with functional Galnt3 had normal Fgf23 but were slightly hypophosphatemic. The stabilized Fgf23 ADHR allele reversed the Galnt3-null phenotype and normalized total Fgf23, serum phosphorus, and bone Fgf23 mRNA. However, the skeletal phenotype was unaffected. In summary, these data demonstrate that O-glycosylation by ppGaINAc-T3 is only necessary for proper secretion of intact Fgf23 and, once secreted, does not affect Fgf23 function. Furthermore, the more stable Fgf23 ADHR mutant protein could normalize serum phosphorus

  19. Scleroderma skin ulcers definition, classification and treatment strategies our experience and review of the literature.

    Science.gov (United States)

    Giuggioli, Dilia; Manfredi, Andreina; Lumetti, Federica; Colaci, Michele; Ferri, Clodoveo

    2018-02-01

    Skin ulcers (SU) are one of the most frequent manifestations of systemic sclerosis (SSc). SSc-SU are very painful, often persistent and recurrent; they may lead to marked impairment of patient's activities and quality of life. Despite their severe impact on the whole SSc patient's management, the proposed definition, classification criteria, and therapeutic strategies of SSc-SU are still controversial. The present study aimed to elaborate a comprehensive proposal of definition, classification, and therapeutic strategy of SSc-SU on the basis of our long-term single center experience along with a careful revision of the world literature on the same topic. A series of 282 SSc patients (254 females and 28 males; 84% with limited and 16% diffuse cutaneous SSc; mean age of 51.5±13.9SD at SSc onset; mean follow-up 5.8±4.6SDyears) enrolled during the last decade at our Rheumatology Unit were retrospectively evaluated with specific attention to SSc-SU. The SSc-SU were classified in 5 subtypes according to prominent pathogenetic mechanism(s) and localization, namely 1. digital ulcers (DU) of the hands or feet, 2. SU on bony prominence, 3. SU on calcinosis, 4. SU of lower limbs, and 5. DU presenting with gangrene. This latter is a very harmful evolution of both DU of the hands and feet needing a differential diagnosis with critical limb ischemia. During the follow up period, one or more episodes of SSc-SU were recorded in over half patients (156/282, 55%); skin lesions were often recurrent and difficult-to-heal because of local complications, mainly infections (67.3%), in some cases associated to osteomyelitis (19.2%), gangrene (16%), and/or amputation (11.5%). SSc-SU were significantly associated with lower patients' mean age at the disease onset (p=0.024), male gender (p=0.03), diffuse cutaneous subset (p=0.015), calcinosis (p=0.002), telangiectasia (p=0.008), melanodermia (pTIME (necrotic Tissue, Infection/Inflammation, Moisture balance, and Epithelization). The updated

  20. Skin Findings in Renal Transplantation Patients

    Directory of Open Access Journals (Sweden)

    Demet Kartal

    2013-03-01

    Full Text Available Objective: It was aimed to identify skin findings those were seen in patients who undergone renal transplantation. Methods: Patients who have been followed in Erciyes University Nephrology Hospital renal transplantation outpatient clinic were included in the study. They were evaluated for dermatologic findings during routine controls. Age, gender, transplantation date, identity of organ donor, history of medications, dermatological history and dermatological findings during examination were recorded. Biopsy was performed when needed. Results: In total 94 patients, 25 female (26.6% and 69 male (73.4%, were recruited to the study. Mean age was 36±10 years. The most frequent skin finding was drug-related acne (n=20. Most common infectious disease was verruca (n=17. There were viral disease other than verruca such as herpes zoster (n=3, superficial mycosis such as onychomycosis (n=5, tinea versicolor, tinea pedis and bacterial skin disease (n=2, and paronychia (n=1 and pre-malign lesions such as actinic cheilitis and bowenoid papulosis. Besides these, stria (n=3, kserosis (n=2, cornu cutaneum, café-au-lait spots, sebaceous hyperplasia and seborrheic dermatitis, skin tag, hypertrichosis, unguis incarinatus and calcinosis were other skin findings those were seen. No malign skin lesion was observed in any of patients. Conclusion: Miscellaneous skin lesions should develop in patients those undergone renal transplantation due to long-term utilization of various immunosuppressive drugs.

  1. Adenocarcinoma of the third portion of the duodenum in a man with CREST syndrome

    Directory of Open Access Journals (Sweden)

    Fragulidis Georgios

    2008-10-01

    Full Text Available Abstract Background CREST (Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasias syndrome has been rarely associated with other malignancies (lung, esophagus.This is the first report of a primary adenocarcinoma of the third portion of the duodenum in a patient with CREST syndrome. Case presentation A 54-year-old male patient with CREST syndrome presented with colicky postprandial pain of the upper abdomen, diminished food uptake and a 6-Kg-body weight loss during the previous 2 months. An ulcerative lesion in the third portion of the duodenum was revealed during duodenoscopy, with a diagnosis of adenocarcinoma on biopsy specimen histology. The patient underwent a partial pancreatoduodenectomy. No adjuvant therapy was instituted and follow-up is negative for local recurrence or metastases 21 months postoperatively. Conclusion CREST syndrome has been associated with colon cancer, gastric polyps, familial adenomatous polyposis (FAP syndrome and Crohn's disease; however, this is the first report of a primary adenocarcinoma of the duodenum in a patient with CREST syndrome. However, any etiologic relationship remains to be further investigated.

  2. Autoantibodies in scleroderma and their association with the clinical profile of the disease. A study of 66 patients from southern Brazil.

    Science.gov (United States)

    Skare, Thelma Larocca; Fonseca, Adriano Erlon; Luciano, Alan Campos; Azevedo, Pedro Ming

    2011-01-01

    Scleroderma is a fairly rare connective tissue disease whose autoantibody profile is associated with different clinical manifestations. The prevalence of autoantibodies in scleroderma is influenced by race and genetics. To study the prevalence of anti-Scl-70, anti-centromere (ACA) and anti-U1-RNP antibodies in patients with scleroderma in southern Brazil and verify their association with clinical manifestations of the disease. A retrospective study involving 66 patients with scleroderma for the presence of anti-Scl-70, anti-centromere and anti-U1-RNP and of clinical manifestations such as Raynaud's phenomenon, digital micro scars, digital necrosis, telangiectasias, calcinosis, pulmonary fibrosis, pleuritis, pericarditis, cardiomyopathy, arthralgia and arthritis, skin sclerosis, joint contractures, tendon friction rubs, pulmonary hypertension, esophageal disorders and renal crisis. The prevalence of anti-Scl-70 was 17.8% , that of ACA was 33.3% and the prevalence of U1 RNP was 11.8%. Anti-Scl-70 was associated with the diffuse form of the disease (p = 0.015), presence of cardiomyopathies (p = 0.016) and digital micro scars (p = 0.05). Anti-centromere was more common in the limited form, although it was not statistically significant, and had a protective role associated with cardiomyopathies (p = 0.005). Anti-U1-RNP was more common in the overlap forms (p = 0.0004). The prevalence and profile of clinical associations of autoantibodies in Brazilian patients with scleroderma are similar to those found in the literature.

  3. Sonography of acne vulgaris.

    Science.gov (United States)

    Wortsman, Ximena; Claveria, Pedro; Valenzuela, Fernando; Molina, Maria Teresa; Wortsman, Jacobo

    2014-01-01

    The purpose of this study was to assess the sonographic morphology of the clinical and subclinical pathology of facial acne vulgaris. We studied patients with facial acne vulgaris diagnosed by certified dermatologists, and using a standardized protocol for sonographic examinations, we sequentially described the sonographic pathomorphologic characteristics. Lesions of particular interest to the referring clinician were also analyzed separately. Additionally, acne involvement was staged clinically and sonographically (SOS-Acne) using morphologic definitions of the relevant lesions and predefined scoring systems for gradation of the severity of acne lesions. A total of 245 acne lesions in 20 consecutive patients were studied. Sonographic abnormalities consisted of pseudocysts, folliculitis, fistulas, and calcinosis. Most conditions were subclinical and mostly due to lesion extensions deep into the dermis and hypodermis (52% of pseudocysts and 68% of fistulas). The statistical concordance between acne severity scores assigned by two separate clinicians was strong (κ = 0.8020), but the corresponding sonographic scores generally showed more severe and clinically occult involvement. Facial acne vulgaris often involves deeper tissues, beyond the reach of the spatially restricted clinical examination; these subclinical conditions can be detected and defined with sonography. Additionally, acne vulgaris is amenable to sonographic scoring.

  4. An MR Brain Images Classifier System via Particle Swarm Optimization and Kernel Support Vector Machine

    Directory of Open Access Journals (Sweden)

    Yudong Zhang

    2013-01-01

    Full Text Available Automated abnormal brain detection is extremely of importance for clinical diagnosis. Over last decades numerous methods had been presented. In this paper, we proposed a novel hybrid system to classify a given MR brain image as either normal or abnormal. The proposed method first employed digital wavelet transform to extract features then used principal component analysis (PCA to reduce the feature space. Afterwards, we constructed a kernel support vector machine (KSVM with RBF kernel, using particle swarm optimization (PSO to optimize the parameters C and σ. Fivefold cross-validation was utilized to avoid overfitting. In the experimental procedure, we created a 90 images dataset brain downloaded from Harvard Medical School website. The abnormal brain MR images consist of the following diseases: glioma, metastatic adenocarcinoma, metastatic bronchogenic carcinoma, meningioma, sarcoma, Alzheimer, Huntington, motor neuron disease, cerebral calcinosis, Pick’s disease, Alzheimer plus visual agnosia, multiple sclerosis, AIDS dementia, Lyme encephalopathy, herpes encephalitis, Creutzfeld-Jakob disease, and cerebral toxoplasmosis. The 5-folded cross-validation classification results showed that our method achieved 97.78% classification accuracy, higher than 86.22% by BP-NN and 91.33% by RBF-NN. For the parameter selection, we compared PSO with those of random selection method. The results showed that the PSO is more effective to build optimal KSVM.

  5. Acro-osteolysis as an indicator of severity in systemic sclerosis.

    Science.gov (United States)

    Arana-Ruiz, Juan Carlos; Amezcua-Guerra, Luis Manuel

    2016-01-01

    Systemic sclerosis is a rare disease that predominantly affects women. The Medsger severity scale has been used to assess the severity, but it requires expensive and poorly accessible studies and it does not include complications such acrosteolysis, calcinosis, pericardial disease or hypothyroidism that occur on a relatively frequent basis in this disease. There is no study that considers if comorbidities, such as primary biliary cirrhosis, are related to gravity. To determine the correlation between severity and the presence of such complications. 40 patients with systemic sclerosis, dividing them into tertiles according to severity were studied. Dichotomous variables were described using percentages, while dimensional by averages+SD. Statistical inference was performed using chi square test or Kruskal-Wallis test with Dunn post-test, as appropriate. A significance at P<.05 was set. Of all the complications studied there were only differences in severity with acrosteolysis. Within comorbidities, primary biliary cirrhosis is not associated with gravity. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  6. A proposal of criteria for the classification of systemic sclerosis.

    Science.gov (United States)

    Nadashkevich, Oleg; Davis, Paul; Fritzler, Marvin J

    2004-11-01

    Sensitive and specific criteria for the classification of systemic sclerosis are required by clinicians and investigators to achieve higher quality clinical studies and approaches to therapy. A clinical study of systemic sclerosis patients in Europe and Canada led to a set of criteria that achieve high sensitivity and specificity. Both clinical and laboratory investigations of patients with systemic sclerosis, related conditions and diseases with clinical features that can be mistaken as part of the systemic sclerosis spectrum were undertaken. Laboratory investigations included the detection of autoantibodies to centromere proteins, Scl-70 (topoisomerase I), and fibrillarin (U3-RNP). Based on the investigation of 269 systemic sclerosis patients and 720 patients presenting with related and confounding conditions, the following set of criteria for the classification of systemic sclerosis was proposed: 1) autoantibodies to: centromere proteins, Scl-70 (topo I), fibrillarin; 2) bibasilar pulmonary fibrosis; 3) contractures of the digital joints or prayer sign; 4) dermal thickening proximal to the wrists; 5) calcinosis cutis; 6) Raynaud's phenomenon; 7) esophageal distal hypomotility or reflux-esophagitis; 8) sclerodactyly or non-pitting digital edema; 9) teleangiectasias. The classification of definite SSc requires at least three of the above criteria. Criteria for the classification of systemic sclerosis have been proposed. Preliminary testing has defined the sensitivity and specificity of these criteria as high as 99% and 100%, respectively. Testing and validation of the proposed criteria by other clinical centers is required.

  7. Pulsed versus continuous wave low-level light therapy on osteoarticular signs and symptoms in limited scleroderma (CREST syndrome): a case report

    Science.gov (United States)

    Barolet, Daniel

    2014-11-01

    Limited cutaneous systemic sclerosis (lcSSc) was formerly known as CREST syndrome in reference to the associated clinical features: calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasias. The transforming growth factor beta has been identified as a major player in the pathogenic process, where low-level light therapy (LLLT) has been shown to modulate this cytokine superfamily. This case study was conducted to assess the efficacy of 940 nm using millisecond pulsing and continuous wave (CW) modes on osteoarticular signs and symptoms associated with lcSSc. The patient was treated two to three times a week for 13 weeks using a sequential pulsing mode on one elbow and a CW mode on the other. Efficacy assessments included inflammation, symptoms, pain, health scales, patient satisfaction, clinical global impression, and adverse effects monitoring. Considerable functional and morphologic improvements were observed after LLLT, with the best results seen with the pulsing mode. No adverse effects were noted. Pulsed LLLT represents a treatment alternative for osteoarticular signs and symptoms in limited scleroderma (CREST syndrome).

  8. Evaluation of muscular lesions in connective tissue diseases: thallium 201 muscular scans

    International Nuclear Information System (INIS)

    Guillet, G.; Guillet, J.; Sanciaume, C.; Maleville, J.; Geniaux, M.; Morin, P.

    1988-01-01

    We performed thallium 201 muscle scans to assess muscular involvement in 40 patients with different connective tissue diseases (7 with dermatomyositis, 7 with systemic lupus erythematosus, 12 with progressive systemic scleroderma, 2 with calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia (CREST) syndrome, 3 with monomelic scleroderma, 6 with morphea, and 3 with Raynaud's disease). Only 12 of these patients complained of fatigability and/or myalgia. Electromyography was performed and serum levels of muscle enzymes were measured in all patients. Comparison of thallium 201 exercise recording with the other tests revealed that scan sensitivity is greater than electromyographic and serum muscle enzymes levels. Thallium 201 scans showed abnormal findings in 32 patients and revealed subclinical lesions in 18 patients, while electromyography findings were abnormal in 25 of these 32 patients. Serum enzyme levels were raised in only 8 patients. Thallium 201 scanning proved to be a useful guide for modifying therapy when laboratory data were conflicting. It was useful to evaluate treatment efficacy. Because our data indicate a 100% positive predictive value, we believe that thallium 201 scanning should be advised for severe systemic connective tissue diseases with discordant test results

  9. The Risk of Vocal Fold Atrophy after Serial Corticosteroid Injections of the Vocal Fold.

    Science.gov (United States)

    Shi, Lucy L; Giraldez-Rodriguez, Laureano A; Johns, Michael M

    2016-11-01

    The aim of this study was to illustrate the risk of vocal fold atrophy in patients who receive serial subepithelial steroid injections for vocal fold scar. This study is a retrospective case report of two patients who underwent a series of weekly subepithelial infusions of 10 mg/mL dexamethasone for benign vocal fold lesion. Shortly after the procedures, both patients developed a weak and breathy voice. The first patient was a 53-year-old man with radiation-induced vocal fold stiffness. Six injections were performed unilaterally, and 1 week later, he developed unilateral vocal fold atrophy with new glottal insufficiency. The second patient was a 67-year-old woman with severe vocal fold inflammation related to laryngitis and calcinosis, Raynaud's phenomenon, esophagean dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome. Five injections were performed bilaterally, and 1 week later, she developed bilateral vocal fold atrophy with a large midline glottal gap during phonation. In both cases, the steroid-induced vocal atrophy resolved spontaneously after 4 months. Serial subepithelial steroid infusions of the vocal folds, although safe in the majority of patients, carry the risk of causing temporary vocal fold atrophy when given at short intervals. Copyright © 2016 The Voice Foundation. Published by Elsevier Inc. All rights reserved.

  10. Radiographic manifestations of Mönckeberg arteriosclerosis in the head and neck region

    International Nuclear Information System (INIS)

    Tahmasbi-Arashlow, Mehrnaz; Barghan, Sevin; Kashtwari, Beeba; Nair, Madhu K.

    2016-01-01

    Mönckeberg sclerosis is a disease of unknown etiology, characterized by dystrophic calcification within the arterial tunica media of the lower extremities leading to reduced arterial compliance. Medial calcinosis does not obstruct the lumina of the arteries, and therefore does not lead to symptoms or signs of limb or organ ischemia. Mönckeberg sclerosis most commonly occurs in aged and diabetic individuals and in patients on dialysis. Mönckeberg arteriosclerosis is frequently observed in the visceral arteries, and it can occur in the head and neck region as well. This report describes a remarkable case of Mönckeberg arteriosclerosis in the head and neck region as detected on dental imaging studies. To the best of our knowledge, this is the first case that has been reported in which this condition presented in the facial vasculature. The aim of this report was to define the radiographic characteristics of Mönckeberg arteriosclerosis in an effort to assist health care providers in diagnosing and managing this condition

  11. Non-Venereal Dermatoses In Male Genital Region-Prevalence And Patterns In A Referral Centre In South India

    Directory of Open Access Journals (Sweden)

    Karthikeyan K

    2001-01-01

    Full Text Available A series of 100 male patients with non-venereal dermatoses of external genitalia were screened amongst patients visiting Dermatology OPD of JIPMER, Pondicherry from Aug ’97 to March ’99. The overall prevalence was found to be 14.1 per 10,000. Non-venereal dermatoses were common in the 21-40 years age group. Most of the patients (74% belonged to labourer class. A total of 25 different non-venereal dermatoses were studied. Genital vitiligo was the most common disorder accounting for 16 cases. Sebaceous cyst of the scrotum was present 13 patients. Among infections and infestations, scabies was observed in 9 patients. Ariboflavinosis was seen in 9 cases. Other disorders encountered were calcinosis scrotum. Iymphangiectasia of the scrotum. Lichen simplex chronicus. Fixed drug eruption, angiokeratoma of Fordyce, lichen sclerosus et atrophicus etc. The study has been quite useful in understanding the clinical and aetiological characteristics of various types of non-veneral dermatoses in males in this subcontinen of Asia.

  12. NEPHROPATHIES IN THE EUROPEAN CAPTIVE CHEETAH (ACINONYX JUBATUS) POPULATION.

    Science.gov (United States)

    Url, Angelika; Krutak, Verena; Kübber-Heiss, Anna; Chvala-Mannsberger, Sonja; Robert, Nadia; Dinhopl, Nora; Schmidt, Peter; Walzer, Chris

    2016-09-01

    According to previous studies in captive cheetah ( Acinonyx jubatus ) populations, one of the most threatening diseases besides amyloidosis, myelopathy, veno occlusive disease, and gastritis, is renal failure. Contrary to captive cheetahs in North America and South Africa, morphological data concerning renal lesions in the cheetah European Endangered Species Program (EEP) are lacking. This study details the histological characterization as well as immunohistochemical and morphometrical analysis of nephropathies in 35 captive cheetahs from the EEP, which were necropsied between 1985 and 2003. Examination of paraffin- and glycolmethacrylate-methylmethacrylate (GMA-MMA) embedded kidney samples by light microscopy revealed glomerulonephritis in 91%, with a high prevalence for glomerulosclerosis and glomerulonephritis with the histologic pattern of membranous glomerulonephritis (77%). Besides these predominating glomerulopathies, a wide range of other renal lesions, like acute tubular necrosis, interstitial nephritis, calcinosis, and amyloidosis, were present. Pathological expression of collagen type IV, complement C3, fibronectin, and IgG was demonstrated in the glomeruli of the cheetah kidneys with the use of the avidin-biotin complex method. Morphometrical analysis was performed on GMA-MMA embedded kidney samples to obtain glomerulosclerosis index and glomerulosclerosis incidence.

  13. Radiographic manifestations of Mönckeberg arteriosclerosis in the head and neck region

    Energy Technology Data Exchange (ETDEWEB)

    Tahmasbi-Arashlow, Mehrnaz; Barghan, Sevin; Kashtwari, Beeba; Nair, Madhu K. [Oral and Maxillofacial Radiology, Colleges of Dentistry and Medicine, University of Florida, Gainesville (United States)

    2016-03-15

    Mönckeberg sclerosis is a disease of unknown etiology, characterized by dystrophic calcification within the arterial tunica media of the lower extremities leading to reduced arterial compliance. Medial calcinosis does not obstruct the lumina of the arteries, and therefore does not lead to symptoms or signs of limb or organ ischemia. Mönckeberg sclerosis most commonly occurs in aged and diabetic individuals and in patients on dialysis. Mönckeberg arteriosclerosis is frequently observed in the visceral arteries, and it can occur in the head and neck region as well. This report describes a remarkable case of Mönckeberg arteriosclerosis in the head and neck region as detected on dental imaging studies. To the best of our knowledge, this is the first case that has been reported in which this condition presented in the facial vasculature. The aim of this report was to define the radiographic characteristics of Mönckeberg arteriosclerosis in an effort to assist health care providers in diagnosing and managing this condition.

  14. Evaluation of muscular lesions in connective tissue diseases: thallium 201 muscular scans

    Energy Technology Data Exchange (ETDEWEB)

    Guillet, G.; Guillet, J.; Sanciaume, C.; Maleville, J.; Geniaux, M.; Morin, P.

    1988-04-01

    We performed thallium 201 muscle scans to assess muscular involvement in 40 patients with different connective tissue diseases (7 with dermatomyositis, 7 with systemic lupus erythematosus, 12 with progressive systemic scleroderma, 2 with calcinosis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia (CREST) syndrome, 3 with monomelic scleroderma, 6 with morphea, and 3 with Raynaud's disease). Only 12 of these patients complained of fatigability and/or myalgia. Electromyography was performed and serum levels of muscle enzymes were measured in all patients. Comparison of thallium 201 exercise recording with the other tests revealed that scan sensitivity is greater than electromyographic and serum muscle enzymes levels. Thallium 201 scans showed abnormal findings in 32 patients and revealed subclinical lesions in 18 patients, while electromyography findings were abnormal in 25 of these 32 patients. Serum enzyme levels were raised in only 8 patients. Thallium 201 scanning proved to be a useful guide for modifying therapy when laboratory data were conflicting. It was useful to evaluate treatment efficacy. Because our data indicate a 100% positive predictive value, we believe that thallium 201 scanning should be advised for severe systemic connective tissue diseases with discordant test results.

  15. Pan-FGFR inhibition leads to blockade of FGF23 signaling, soft tissue mineralization, and cardiovascular dysfunction.

    Science.gov (United States)

    Yanochko, Gina M; Vitsky, Allison; Heyen, Jonathan R; Hirakawa, Brad; Lam, Justine L; May, Jeff; Nichols, Tim; Sace, Frederick; Trajkovic, Dusko; Blasi, Eileen

    2013-10-01

    The fibroblast growth factor receptors (FGFR) play a major role in angiogenesis and are desirable targets for the development of therapeutics. Groups of Wistar Han rats were dosed orally once daily for 4 days with a small molecule pan-FGFR inhibitor (5mg/kg) or once daily for 6 days with a small molecule MEK inhibitor (3mg/kg). Serum phosphorous and FGF23 levels increased in all rats during the course of the study. Histologically, rats dosed with either drug exhibited multifocal, multiorgan soft tissue mineralization. Expression levels of the sodium phosphate transporter Npt2a and the vitamin D-metabolizing enzymes Cyp24a1 and Cyp27b1 were modulated in kidneys of animals dosed with the pan-FGFR inhibitor. Both inhibitors decreased ERK phosphorylation in the kidneys and inhibited FGF23-induced ERK phosphorylation in vitro in a dose-dependent manner. A separate cardiovascular outcome study was performed to monitor hemodynamics and cardiac structure and function of telemetered rats dosed with either the pan-FGFR inhibitor or MEK inhibitor for 3 days. Both compounds increased blood pressure (~+ 17 mmHg), decreased heart rate (~-75 bpm), and modulated echocardiography parameters. Our data suggest that inhibition of FGFR signaling following administration of either pan-FGFR inhibitor or MEK inhibitor interferes with the FGF23 pathway, predisposing animals to hyperphosphatemia and a tumoral calcinosis-like syndrome in rodents.

  16. Survival and causes of death in systemic sclerosis patients: a single center registry report from Iran.

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    Poormoghim, Hadi; Andalib, Elham; Jalali, Arash; Ghaderi, Afshin; Ghorbannia, Ali; Mojtabavi, Nazanin

    2016-07-01

    The aims of the study were to determine prognostic factors for survival and causes of death in a cohort of patients with systemic sclerosis (SSc). This was a cohort study of SSc patients in single rheumatologic center from January 1998 to August 2012. They fulfilled the American College of Rheumatology classification criteria for SSc or had calcinosis Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, telangiectasia or sine sclerosis. Causes of death were classified as SSc related and non-SSc related. Kaplan-Meier and Cox proportional hazard regression models were used in univariate and multivariate analysis to analyse survival in subgroups and determine prognostic factors of survival. The study includes 220 patients (192 female, 28 male). Out of thirty-two (14.5 %) who died, seventeen (53.1 %) deaths were SSc related and in nine (28.1 %) non-SSc-related causes, and in six (18.8 %) of patients causes of death were not defined. Overall survival rate was 92.6 % (95 % CI 87.5-95.7 %) after 5 years and 82.3 % (95 % CI 73.4-88.4 %) after 10 years. Pulmonary involvement was a major SSc-related cause of death, occurred in seven (41.1 %) patients. Cardiovascular events were leading cause of in overall death (11) 34.3 % and 6 in non-SSc-related death. Independent risk factors for mortality were age >50 at diagnosis (HR 5.10) advance pulmonary fibrosis (HR 11.5), tendon friction rub at entry (HR 6.39), arthritis (HR 3.56). In this first Middle Eastern series of SSc registry, pulmonary and cardiac involvements were the leading cause of SSc-related death.

  17. Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations.

    Science.gov (United States)

    Ichikawa, Shoji; Guigonis, Vincent; Imel, Erik A; Courouble, Mélanie; Heissat, Sophie; Henley, John D; Sorenson, Andrea H; Petit, Barbara; Lienhardt, Anne; Econs, Michael J

    2007-05-01

    Hyperostosis-hyperphosphatemia syndrome (HHS) is a rare metabolic disorder characterized by hyperphosphatemia and localized hyperostosis. HHS is caused by mutations in GALNT3, which encodes UDP-N-acetyl-alpha-D-galactosamine:polypeptide N- acetylgalactosaminyltransferase 3. Familial tumoral calcinosis (TC), characterized by ectopic calcifications and hyperphosphatemia, is caused by mutations in the GALNT3 or fibroblast growth factor 23 (FGF23) genes. Our objective was to identify mutations in FGF23 or GALNT3 and determine serum FGF23 levels in an HHS patient. Mutation detection in FGF23 and GALNT3 was performed by DNA sequencing, and serum FGF23 concentrations were measured by ELISA. A 5-year-old French boy with HHS and his family members participated. The patient presented with painful cortical lesions in his leg. Radiographs of the affected bone showed diaphyseal hyperostosis. The lesional tissue comprised trabeculae of immature, woven bone surrounded by fibrous tissue. Biochemistry revealed elevated phosphate, tubular maximum rate for phosphate reabsorption per deciliter of glomerular filtrate, and 1,25-dihydroxyvitamin D levels. The patient was a compound heterozygote for two novel GALNT3 mutations. His parents and brother were heterozygous for one of the mutations and had no biochemical abnormalities. Intact FGF23 level in the patient was low normal, whereas C-terminal FGF23 was elevated, a pattern similar to TC. The presence of GALNT3 mutations and elevated C-terminal, but low intact serum FGF23, levels in HHS resemble those seen in TC, suggesting that HHS and TC are different manifestations of the same disorder. The absence of biochemical abnormalities in the heterozygous individuals suggests that one normal allele is sufficient for secretion of intact FGF23.

  18. A Mutation in the Dmp1 Gene Alters Phosphate Responsiveness in Mice

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    Gerard-O'Riley, Rita L.; Acton, Dena; McQueen, Amie K.; Strobel, Isabel E.; Witcher, Phillip C.; Feng, Jian Q.; Econs, Michael J.

    2017-01-01

    Mutations in the dentin matrix protein 1 (DMP1) gene cause autosomal recessive hypophosphatemic rickets (ARHR). Hypophosphatemia in ARHR results from increased circulating levels of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Similarly, elevated FGF23, caused by mutations in the PHEX gene, is responsible for the hypophosphatemia in X-linked hypophosphatemic rickets (XLH). Previously, we demonstrated that a Phex mutation in mice creates a lower set point for extracellular phosphate, where an increment in phosphorus further stimulates Fgf23 production to maintain low serum phosphorus levels. To test the presence of the similar set point defect in ARHR, we generated 4- and 12-week-old Dmp1/Galnt3 double knockout mice and controls, including Dmp1 knockout mice (a murine model of ARHR), Galnt3 knockout mice (a murine model of familial tumoral calcinosis), and phenotypically normal double heterozygous mice. Galnt3 knockout mice had increased proteolytic cleavage of Fgf23, leading to low circulating intact Fgf23 levels with consequent hyperphosphatemia. In contrast, Dmp1 knockout mice had little Fgf23 cleavage and increased femoral Fgf23 expression, resulting in hypophosphatemia and low femoral bone mineral density (BMD). However, introduction of the Galnt3 null allele to Dmp1 knockout mice resulted in a significant increase in serum phosphorus and normalization of BMD. This increased serum phosphorus was accompanied by markedly elevated Fgf23 expression and circulating Fgf23 levels, an attempt to reduce serum phosphorus in the face of improving phosphorus levels. These data indicate that a Dmp1 mutation creates a lower set point for extracellular phosphate and maintains it through the regulation of Fgf23 cleavage and expression. PMID:28005411

  19. A Phex mutation in a murine model of X-linked hypophosphatemia alters phosphate responsiveness of bone cells.

    Science.gov (United States)

    Ichikawa, Shoji; Austin, Anthony M; Gray, Amie K; Econs, Michael J

    2012-02-01

    Mutations in the PHEX gene cause X-linked hypophosphatemia (XLH). Hypophosphatemia in XLH results from increased circulating levels of a phosphaturic hormone, fibroblast growth factor 23 (FGF23), which inhibits renal phosphate reabsorption and 1,25-dihydroxyvitamin D (calcitriol) synthesis. The current standard therapy for XLH--high-dose phosphate and calcitriol--further increases FGF23 concentrations, suggesting that patients with XLH may have an altered response to extracellular phosphate. To test for the presence of abnormal phosphate responsiveness, we compared serum biochemistries and femoral Fgf23 mRNA expression between wild-type mice, murine models of XLH (Phex(K496X)) and hyperphosphatemic tumoral calcinosis (Galnt3(-/-)), and Galnt3/Phex double-mutant mice. Phex mutant mice had not only increased Fgf23 expression but also reduced proteolytic cleavage of intact Fgf23 protein, resulting in markedly elevated intact Fgf23 levels and consequent hypophosphatemia. In contrast, despite markedly increased Fgf23 expression, Galnt3 knockout mice had significantly high proteolytic cleavage of Fgf23 protein, leading to low intact Fgf23 concentrations and hyperphosphatemia. Galnt3/Phex double-mutant mice had an intermediate biochemical phenotype between wild-type and Phex mutant mice, including slightly elevated intact Fgf23 concentrations with milder hypophosphatemia. Despite the hypophosphatemia, double-mutant mice attempted to reduce serum phosphate back to the level of Phex mutant mice by upregulating Fgf23 expression as much as 24-fold higher than Phex mutant mice. These data suggest that Phex mutations alter the responsiveness of bone cells to extracellular phosphate concentrations and may create a lower set point for "normal" phosphate levels.

  20. Antinuclear Matrix Protein 2 Autoantibodies and Edema, Muscle Disease, and Malignancy Risk in Dermatomyositis Patients.

    Science.gov (United States)

    Albayda, Jemima; Pinal-Fernandez, Iago; Huang, Wilson; Parks, Cassie; Paik, Julie; Casciola-Rosen, Livia; Danoff, Sonye K; Johnson, Cheilonda; Christopher-Stine, Lisa; Mammen, Andrew L

    2017-11-01

    Dermatomyositis (DM) patients typically present with proximal weakness and autoantibodies that are associated with distinct clinical phenotypes. We observed that DM patients with autoantibodies recognizing the nuclear matrix protein NXP-2 often presented with especially severe weakness. The aim of this study was to characterize the clinical features associated with anti-NXP-2 autoantibodies. There were 235 DM patients who underwent testing for anti-NXP-2 autoantibodies. Patient characteristics, including muscle strength, were compared between those with and without these autoantibodies. The number of cancer cases observed in anti-NXP-2-positive subjects was compared with the number expected in the general population. Of the DM patients, 56 (23.8%) were anti-NXP-2-positive. There was no significant difference in the prevalence of proximal extremity weakness in patients with and without anti-NXP-2. In contrast, anti-NXP-2-positive patients had more prevalent weakness in the distal arms (35% versus 20%; P = 0.02), distal legs (25% versus 8%; P edema (36% versus 19%; P = 0.01) than anti-NXP-2-negative patients. Five anti-NXP-2-positive subjects (9%) had cancer-associated myositis, representing a 3.68-fold increased risk (95% confidence interval 1.2-8.6) compared to the expected prevalence in the general population. In DM, anti-NXP-2 autoantibodies are associated with subcutaneous edema, calcinosis, and a muscle phenotype characterized by myalgia, proximal and distal weakness, and dysphagia. As anti-NXP-2-positive patients have an increased risk of cancer, we suggest that they undergo comprehensive cancer screening. © 2017, American College of Rheumatology.

  1. Calciphylaxis and Martorell Hypertensive Ischemic Leg Ulcer: Same Pattern - One Pathophysiology.

    Science.gov (United States)

    Hafner, Jürg

    2016-01-01

    This review presents a closer look at four diseases which are probably closely related to one another pathophysiologically: (a) calciphylaxis (distal pattern); (b) calciphylaxis (proximal pattern); (c) Martorell hypertensive ischemic leg ulcer; (d) calciphylaxis with normal renal and parathyroid function (synonym: eutrophication). The four diseases have largely the same risk factors: (1) arterial hypertension, (2) diabetes mellitus (types 1 and 2), (3) secondary or tertiary hyperparathyroidism (in end-stage kidney disease) and (4) oral anticoagulation with vitamin K antagonists. They share the same clinical patterns: necrotizing livedo, skin infarctions at typical locations and acral gangrene in calciphylaxis. They also share the same histopathology: ischemic subcutaneous arteriolosclerosis and small-artery disease and 'miniaturizing' Mönckeberg medial calcinosis. The treatment concept for the acute phase of the diseases is also broadly similar. In addition to an optimized control of the cardiovascular risk factors, a proactive wound approach (necrosectomy, negative pressure wound treatment with vacuum dressings, and early skin grafts supported by systemic antibiotic therapy) leads most rapidly and effectively to a reduction of the initially severe wound pain, and finally to complete healing of the wound. Oral anticoagulation with vitamin K antagonists should be stopped. In extensive cases, the use of intravenous sodium thiosulfate is recommended. All four diagnoses are little known in the medical schools of most countries. The need to improve familiarity with these four closely related disorders is therefore great. In particular, the risk of confusion with pyoderma gangrenosum is a major diagnostic problem which can lead to false and even damaging treatment. © 2016 S. Karger AG, Basel.

  2. Clinical presentation and evaluation of dermatomyositis

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    Umaima Marvi

    2012-01-01

    Full Text Available Dermatomyositis (DM is a chronic inflammatory disorder of the skin and muscles. Evidence supports that DM is an immune-mediated disease and 50-70% of patients have circulating myositis-specific auto-antibodies. Gene expression microarrays have demonstrated upregulation of interferon signaling in the muscle, blood, and skin of DM patients. Patients with classic DM typically present with symmetric, proximal muscle weakness, and skin lesions that demonstrate interface dermatitis on histopathology. Evaluation for muscle inflammation can include muscle enzymes, electromyogram, magnetic resonance imaging, and/or muscle biopsy. Classic skin manifestations of DM include the heliotrope rash, Gottron′s papules, Gottron′s sign, the V-sign, and shawl sign. Additional cutaneous lesions frequently observed in DM patients include periungual telangiectasias, cuticular overgrowth, "mechanic′s hands", palmar papules overlying joint creases, poikiloderma, and calcinosis. Clinically amyopathic DM is a term used to describe patients who have classic cutaneous manifestations for more than 6 months, but no muscle weakness or elevation in muscle enzymes. Interstitial lung disease can affect 35-40% of patients with inflammatory myopathies and is often associated with the presence of an antisynthetase antibody. Other clinical manifestations that can occur in patients with DM include dysphagia, dysphonia, myalgias, Raynaud phenomenon, fevers, weight loss, fatigue, and a nonerosive inflammatory polyarthritis. Patients with DM have a three to eight times increased risk for developing an associated malignancy compared with the general population, and therefore all patients with DM should be evaluated at the time of diagnosis for the presence of an associated malignancy. This review summarizes the immunopathogenesis, clinical manifestations, and evaluation of patients with DM.

  3. Effects of x-ray irradiation on mast cells and mastocalcergy in the connective tissue

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    Song, H. Y.; Rhee, S. J.; Son, M. H.; Choi, K. C. [Chonbuk National University College of Medicine, Jeonju (Korea, Republic of)

    1982-09-15

    Experiments were performed to observe the influence of x-ray irradiation on mast cells and mastocalcergy in rats. Animals were irradiated single dose of x-ray. X-ray irradiation was applied to the whole body in doses either 100 rads or 150 rads (Cobalt-60 Teletherapy Unit). One day after irradiation the rats were injected lead acetate intravenously, followed by injection of compound 48/80 in the back subcutaneously. Animals were killed by decapitation at intervals, 1 hour, 5 hours, 1 day and 6 day after subcutaneous injection. Specimens of the abdominal and back skin were fixed in alcohol formol solution and stained with the following methods; H-E for observation of pathological changes of tissues, toluidine blue for demonstration of mast cells, von Kossa-azure A for demonstration of carbonate and phosphate, and chloranilic acid for demonstration of calcium. The following conclusions were obtained. Calciphylatic wheals are large size in the control group, medium size in 100 rads irradiation group and small size in 150 rads irradiation group. In x-ray irradiation groups the number of mast cells decreases more in the 150 rads than in the 100 rads irradiation. In the 100 rads x-ray irradiation group, histochemical study of the injection sites showed that calcium impregnated to mast cell granules and connective tissue fibers in 1 days after subcutaneous injection. The morphogenesis of this calcinosis was the same in the rat of 5 hour after subcutaneous injection of the control group. Whereas, 1 day after subcutaneous injection in 150 rads x-ray irradiation group calcium deposited more slightly than other groups.

  4. Esophageal abnormalities in juvenile localized scleroderma: is it associated with other extracutaneous manifestations?

    Science.gov (United States)

    Valões, Clarissa C M; Novak, Glaucia V; Brunelli, Juliana B; Kozu, Katia T; Toma, Ricardo K; Silva, Clovis A

    To assess esophageal involvement (EI) in juvenile localized scleroderma (JLS) population and the possible association between this gastrointestinal manifestation and demographic data, clinical features, laboratory exams, treatments and outcomes. For a period of 30 years, 5881 patients with rheumatic diseases were followed in our Pediatric Rheumatology Division. EI was defined by the presence of symptoms (solid/liquid dysphagia, heartburn, esophageal regurgitation, nausea/vomiting and epigastralgia) and confirmed by at least one EI exam abnormality: barium contrast radiography, upper gastrointestinal endoscopy and 24-hour esophageal pH-monitoring. JLS was observed in 56/5881 patients (0.9%), mainly linear morphea subtype. EI was observed in 23/56(41%) of JLS patients. Eight(35%) of 23 EI patients with JLS were symptomatic and presented heartburn(5/8), solid and liquid dysphagia(3/8), nausea and epigastralgia(1/8). The frequency of any cumulative extracutaneous manifestations (calcinosis, arthritis/arthralgia, central nervous system, interstitial pneumonitis, mesangial nephritis and/or arrhythmia) was significantly higher in JLS patients with EI compared to those without this complication (56% vs. 24%, p=0.024). No differences were evidenced in demographic data, JLS subtypes and in each extracutaneous manifestation in both groups (p>0.05). The frequency of methotrexate use was significantly higher in JLS patients with EI compared to those without (52% vs. 12%, p=0.002). Autoantibody profile (antinuclear antibodies, anti-SCL-70, rheumatoid factor, anticentromere, anti-cardiolipin, anti-Ro/SSA and anti-La/SSB) was similar in both groups (p>0.05). Our study demonstrated that EI was frequently observed in JLS patients, mainly in asymptomatic patients with linear subtype. EI occurred in JLS patients with other extracutaneous manifestations and required methotrexate therapy. Copyright © 2016. Published by Elsevier Editora Ltda.

  5. Esophageal abnormalities in juvenile localized scleroderma: is it associated with other extracutaneous manifestations?

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    Clarissa C.M. Valões

    Full Text Available Abstract Objective: To assess esophageal involvement (EI in juvenile localized scleroderma (JLS population and the possible association between this gastrointestinal manifestation and demographic data, clinical features, laboratory exams, treatments and outcomes. Methods: For a period of 30 years, 5881 patients with rheumatic diseases were followed in our Pediatric Rheumatology Division. EI was defined by the presence of symptoms (solid/liquid dysphagia, heartburn, esophageal regurgitation, nausea/vomiting and epigastralgia and confirmed by at least one EI exam abnormality: barium contrast radiography, upper gastrointestinal endoscopy and 24-hour esophageal pH-monitoring. Results: JLS was observed in 56/5881 patients (0.9%, mainly linear morphea subtype. EI was observed in 23/56(41% of JLS patients. Eight(35% of 23 EI patients with JLS were symptomatic and presented heartburn(5/8, solid and liquid dysphagia(3/8, nausea and epigastralgia(1/8. The frequency of any cumulative extracutaneous manifestations (calcinosis, arthritis/arthralgia, central nervous system, interstitial pneumonitis, mesangial nephritis and/or arrhythmia was significantly higher in JLS patients with EI compared to those without this complication (56% vs. 24%, p = 0.024. No differences were evidenced in demographic data, JLS subtypes and in each extracutaneous manifestation in both groups (p > 0.05. The frequency of methotrexate use was significantly higher in JLS patients with EI compared to those without (52% vs. 12%, p = 0.002. Autoantibody profile (antinuclear antibodies, anti-SCL-70, rheumatoid factor, anticentromere, anti-cardiolipin, anti-Ro/SSA and anti-La/SSB was similar in both groups (p > 0.05. Conclusions: Our study demonstrated that EI was frequently observed in JLS patients, mainly in asymptomatic patients with linear subtype. EI occurred in JLS patients with other extracutaneous manifestations and required methotrexate therapy.

  6. Mucocutaneous and demographic features of systemic sclerosis: A profile of 46 patients from Eastern India

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    Sudip Kumar Ghosh

    2012-01-01

    Full Text Available Background: Systemic sclerosis (SSc is a multisystem connective tissue disorder of uncertain etiology. The clinical picture is frequently dominated by prominent cutaneous manifestations that have diagnostic and prognostic significance. The objective of the present study was to find out the demographic profile and the relative frequencies and characteristics of different mucocutaneous features of SSc in a group of patients from eastern India. In addition, we sought to compare the frequency and pattern of the findings in the limited versus the diffuse variety of the disease. Materials and Methods:This was a cross-sectional, clinical observational study. Consecutive patients of SSc attending the dermatology O.P.D. of a tertiary care hospital of eastern India over 3 years were enrolled to the present study. Results:A total of 46 patients (41 females and 5 males; mean age 29.6±12.3 years of SSc were evaluated. Among mucocutaneous manifestations Raynaud′s phenomenon was present in 39 (84.8% patients. Other cutaneous features included dyspigmentation (40, 86.9%, sclerodactyly (38, 82.6%, inability to open the mouth (38,82.6%, mat-like telangiectasia (11,23.1%, fingertip ulceration and scarring (29,63%, cutaneous calcinosis (1,2.2%, digital gangrene in (2,4.3%, generalized pruritus (4,8.7%, cutaneous small vessel vasculitis (2,4.3%, chronic urticaria (2,4.3%, flexion contractures of the fingers (13,28.3%, and amputation of the digits (3,6.5%. Mucosal changes were observed in 10 (21.7% patients and nail changes were seen in 13 (28.2% patients. Diffuse cutaneous SSc was noted in 27 (58.7% patients and limited cutaneous SSc was seen in the remainder. Thirty-six (78.2% patients tested positive for ANA. Conclusion: The present study provides a snapshot of the spectrum of the demographic and mucocutaneous manifestations of SSc in the eastern Indian population. We have not observed any statistically significant differences between dcSSc and lcSSc in terms

  7. Congenital genetic inborn errors of metabolism presenting as an adult or persisting into adulthood: neuroimaging in the more common or recognizable disorders.

    Science.gov (United States)

    Krishna, Shri H; McKinney, Alexander M; Lucato, Leandro T

    2014-04-01

    neurodegenerative disorders of brain iron accumulation. Additionally, an arbitrary "miscellaneous" category of 5 recognizable disorders that may present in or persist into adulthood is summarized, which include megalencephalic leukoencephalopathy with subcortical cysts (megancephalic leukoencephalopathy with subcortical cysts or van der Knaap disease), polymerase-III gene defect ("4H syndrome"), childhood ataxia with central nervous system hypomyelination ("vanishing white matter disease"), striopallidodentate calcinosis ("Fahr disease"), and Cockayne syndrome. © 2013 Published by Elsevier Inc.

  8. Redefining dermatomyositis: a description of new diagnostic criteria that differentiate pure dermatomyositis from overlap myositis with dermatomyositis features.

    Science.gov (United States)

    Troyanov, Yves; Targoff, Ira N; Payette, Marie-Pier; Raynauld, Jean-Pierre; Chartier, Suzanne; Goulet, Jean-Richard; Bourré-Tessier, Josiane; Rich, Eric; Grodzicky, Tamara; Fritzler, Marvin J; Joyal, France; Koenig, Martial; Senécal, Jean-Luc

    2014-11-01

    Dermatomyositis (DM) is a major clinical subset of autoimmune myositis (AIM). The characteristic DM rash (Gottron papules, heliotrope rash) and perifascicular atrophy at skeletal muscle biopsy are regarded as specific features for this diagnosis. However, new concepts are challenging the current definition of DM. A modified Bohan and Peter classification of AIM was proposed in which the core concept was the inclusion of the diagnostic significance of overlap connective tissue disease features. In this clinical classification, a DM rash in association with myositis in the absence of overlap features indicates a diagnosis of pure DM. However, overlap features in association with myositis allow a diagnosis of overlap myositis (OM), irrespective of the presence or absence of the DM rash. Perifascicular atrophy may be present in both pure DM and OM. Recently, the presence of perifascicular atrophy in myositis without a DM rash was proposed as diagnostic of a novel entity, adermatopathic DM. We conducted the present study to evaluate these new concepts to further differentiate pure DM from OM.Using the modified Bohan and Peter classification, we performed a follow-up study of a longitudinal cohort of 100 consecutive adult French Canadian patients with AIM, including 44 patients with a DM phenotype, defined as a DM rash, and/or DM-type calcinosis, and/or the presence of perifascicular atrophy on muscle biopsy. A detailed evaluation was performed for overlap features, the extent and natural history of the DM rash, adermatopathic DM, DM-specific and overlap autoantibodies by protein A immunoprecipitation on coded serum samples, and associations with cancer and survival.Two distinct subsets were identified in patients with a DM phenotype: pure DM (n = 24) and OM with DM features, or OMDM (n = 20). In pure DM, the DM rash was a dominant finding. It was the first disease manifestation, was always present at the time of myositis diagnosis, and was associated with a high

  9. Autoanticorpos em esclerodermia e sua associação ao perfil clínico da doença: estudo em 66 pacientes do sul do Brasil Autoantibodies in scleroderma and their association with the clinical profile of the disease: a study of 66 patients from southern Brazil

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    Thelma Larocca Skare

    2011-12-01

    manifestations of the disease. METHODS: A retrospective study involving 66 patients with scleroderma for the presence of anti-Scl-70, anti-centromere and anti-U1-RNP and of clinical manifestations such as Raynaud's phenomenon, digital micro scars, digital necrosis, telangiectasias, calcinosis, pulmonary fibrosis, pleuritis, pericarditis, cardiomyopathy, arthralgia and arthritis, skin sclerosis, joint contractures, tendon friction rubs, pulmonary hypertension, esophageal disorders and renal crisis. RESULTS: The prevalence of anti-Scl-70 was 17.8% , that of ACA was 33.3% and the prevalence of U1 RNP was 11.8%. Anti-Scl-70 was associated with the diffuse form of the disease (p = 0.015, presence of cardiomyopathies (p = 0.016 and digital micro scars (p = 0.05. Anti-centromere was more common in the limited form, although it was not statistically significant, and had a protective role associated with cardiomyopathies (p = 0.005. Anti-U1-RNP was more common in the overlap forms (p = 0.0004. CONCLUSION: The prevalence and profile of clinical associations of autoantibodies in Brazilian patients with scleroderma are similar to those found in the literature.

  10. Thymic atrophy in cattle poisoned with Solanum glaucophyllum Atrofia do timo em bovinos intoxicados por Solanum glaucophyllum

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    Paula A. Fontana

    2009-03-01

    Full Text Available Solanum glaucophyllum (Sg [= S. malacoxylon] is a calcinogenic plant inducing "Enzootic Calcinosis" in cattle. The 1,25-dihydroxyvitamin D3, its main toxic principle, regulates bone and calcium metabolism and also exerts immunomodulatory effects. Thymocyte precursors from bone marrow-derived progenitor cells differentiate into mature T-cells. Differentiation of most T lymphocytes is characterized not only by the variable expression of CD4/CD8 receptor molecules and increased surface density of the T cell antigen receptor, but also by changes in the glycosylation pattern of cell surface glycolipids or glycoproteins. Thymocytes exert a feedback influence on thymic non-lymphoid cells. Sg-induced modifications on cattle thymus T-lymphocytes and on non-lymphoid cells were analysed. Heifers were divided into 5 groups (control, intoxicated with Sg during 15, 30 or 60 days, and probably recovered group. Histochemical, immunohistochemical, lectinhistochemical and morphometric techniques were used to characterize different cell populations of the experimental heifers. Sg-poisoned heifers showed a progressive cortical atrophy that was characterized using the peanut agglutinin (PNA lectin that recognizes immature thymocytes. These animals also increased the amount of non-lymphoid cells per unit area detected with the Picrosirius technique, WGA and DBA lectins, and pancytokeratin and S-100 antibodies. The thymus atrophy found in intoxicated animals resembled that of the physiological aging process. A reversal effect on these changes was observed after suppression of the intoxication. These findings suggest that Sg-intoxication induces either directly, through the 1,25-dihydroxyvitamin D3 itself, or indirectly through the hypercalcemia, the observed alteration of the thymus.Solanum glaucophyllum (Sg [= S. malacoxylon] é uma planta calcinogênica que induz "Calcinose Enzoótica" em bovinos. O 1,25-dihidroxivitamina D3, seu principal agente tóxico, regula o