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Sample records for calcinosis

  1. [JUVENILE DERMATOMYOSITIS AND CALCINOSIS].

    Science.gov (United States)

    Zhvania, M

    2015-01-01

    Juvenile Dermatomiositis (JD) is autoimmune disease that progresses with time; JD's main differentiated syndromes are rash on the skin, poor function of muscles, and often developing invalidism. If the health practitioners manage to diagnose the JD on an early stage and prescribe the adequate treatment the disease will not progress aggressively. This approach is tangible for practical rheumatology and pediatric. The article aims to present the reasons of the development of the JD and calcinosis. The study based on the description of the patients with JD. There are distinguished the main symptoms of the disease in children: frequent and acute developments of muscles calcinosis, occasionally with diffuse character followed with hypotrophy of the muscles, contractures and invalidism. One of the patient cases that describe the article is the thirteen-year boy with JD indicating repeated sequence of the disease, with diffusive calcinosis, cellulitis followed with secondary infection and impaired vision.

  2. Unilateral Idiopathic Calcinosis Cutis: A Case Report

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    Alsaif, Fahad; Abduljabbar, Amr M.

    2017-01-01

    Calcinosis cutis is a rare disorder characterized by the deposition of calcium in the skin and subcutaneous tissue. Unilateral idiopathic calcinosis cutis has only rarely been reported in the literature. Here, we report the case of a 7-year-old healthy girl who presented with multiple asymptomatic hard nodules on the right side of her body. Histopathological, radiological, and extensive blood investigations confirmed the diagnosis of unilateral idiopathic calcinosis cutis. PMID:28203159

  3. Idiopathic Circumscripta Calcinosis Cutis of the Fingers

    Directory of Open Access Journals (Sweden)

    Ömer Çalka

    2013-05-01

    Full Text Available Calcinosis cutis is an uncommon disorder characterized by deposition of insoluble calcium salts in the skin. Based on the etiology of the deposition calcinosis cutis may be devided into four major groups namely metastatic, dystrophic, idiopathic, and iatrogenic. The pathophysiology of calcinosis cutis remains unclear. The dystrophic form is the most common whereas the idiopathic one is the rarest. Idiopathic calcinosis cutis occurs in the absence of any identifiable causes and is not associated with drug use. Idiopathic calcinosis cutis has two major types called localized (circumscript and generalized (universalis. Localized type generally involves the vulva, scrotum, penis and breast. A definitive diagnosis requires the histologic demonstration of the accumulation of calcium in the skin and exclusion of other clinic types.There is not an effective treatment for the disease. A 47-year-old woman referred to our outpatient clinic for painless, yellowish-white nodules on her hand enduring for 30 years. A diagnosis of idiopathic calcinosis cutis was made by clinical and histological findings. We present this case because localization of lesions in our case was previously unreported in the literature to our knowledge.

  4. Idiopathic calcinosis cutis of nasal dorsum

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    Shrinath D.P Kamath

    2012-01-01

    Full Text Available A 23-year-old lady presented with a slowly progressing firm mass on the nasal dorsum since 8 months. Her biochemical, haematological and collagen vascular disease screening tests were normal. Radiographs of the nasal bones showed a subcutaneous calcifying lesion with no evidence of nasal bone erosion. A diagnosis of idiopathic calcinosis cutis (ICC was made. The mass was excised and soft tissue defect was augmented with silicone prosthesis. The histopathology with the haematoxylin and eosin staining and von Kossa stain confirmed the diagnosis of calcinosis cutis. This is an unusual presentation of ICC involving the nasal dorsum requiring surgery and nasal dorsal augmentation with silicone prosthesis.

  5. Calcinosis in juvenile dermatomyositis: frequency, risk factors and outcome.

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    Saini, Isha; Kalaivani, Mani; Kabra, Sushil Kumar

    2016-07-01

    The aim was to retrospectively estimate the prevalence of calcinosis in patients with juvenile dermatomyositis (JDM) and to identify risk factors associated with development of calcinosis in these patients. Retrospective chart review of 39 children diagnosed with JDM between 2004 and 2015 in a tertiary care hospital was done. Patients were divided into two groups, depending on the presence or absence of calcinosis, and the two groups were compared with respect to demographic, clinical, laboratory and therapeutic characteristics. Calcinosis developed in nine (23.1 %) patients. Delay in diagnosis and initiation of treatment, prolonged duration of disease, the presence of joint contractures and cardiac involvement were significantly associated with increased frequency of calcinosis. Six out of nine (66.7 %) patients with calcinosis received alendronate therapy, out of which four showed partial reduction in calcinosis. In one case, surgical removal of tumorous clumps was done. Calcinosis remains a common complication of JDM. We found an association between calcinosis and delay in diagnosis and initiation of treatment, prolonged duration of disease and cardiac involvement. Our study suggests that alendronate may be beneficial in management of calcinosis of JDM.

  6. Genetics Home Reference: hyperphosphatemic familial tumoral calcinosis

    Science.gov (United States)

    ... the kidneys. Calcinosis results when the excess phosphate combines with calcium to form deposits that build up ... hyperphosphatemic ClinicalTrials.gov (1 link) ClinicalTrials.gov Scientific Articles on PubMed (1 link) PubMed OMIM (1 link) ...

  7. Rapid improvement of calcinosis in juvenile dermatomyositis with alendronate therapy.

    Science.gov (United States)

    Ambler, Geoffrey R; Chaitow, Jeffrey; Rogers, Maureen; McDonald, David W; Ouvrier, Robert A

    2005-09-01

    A 6-year-old boy with improving juvenile dermatomyositis (JDM) developed severe and debilitating calcinosis, unresponsive to diltiazem and probenecid. Alendronate produced dramatic improvement within 1 month and by 12 months calcinosis had virtually resolved. The response was followed by bone mineral content measurements.

  8. Multimodal imaging in the differential diagnosis of soft tissue calcinosis

    Directory of Open Access Journals (Sweden)

    G. Garlaschi

    2011-11-01

    Full Text Available Soft tissue calcinosis is a common radiographic finding, which may be related to different types of pathological processes. Multimodality imaging, combined with analysis of clinical and laboratory data, plays an important role for the differential diagnosis of these conditions. Conventional radiography is considered the first line approach to soft tissue calcinosis; CT and MRI may provide further information to better characterize calcified deposits. Imaging may help to distinguish metabolic calcification, such as primary tumoral calcinosis and the secondary one (associated with acquired disorders of calcium or phosphate regulation, from dystrophic calcification, which is associated to normal blood values of phosphate. The sedimentation sign typical of tumoral calcinosis has been demonstrated by plain film radiography, CT, MRI, and, more recently, by ultrasonography. Other types of soft tissue calcinosis may have a degenerative, metaplastic or neoplastic origin, and their characterization strongly relies on multimodality imaging.

  9. Calcinosis cutis secondary to facial acne vulgaris: A rare complication

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    Srimanta Kumar Sahu

    2015-01-01

    Full Text Available Acne vulgaris is a common dermatological disease commonly affecting the adolescent and young adults. It is characterized by the presence of pleomorphic skin lesions such as comadones, papules, pustules, and nodules. The common complications are postacne hyperpigmentation and scarring causing psychological impact. Calcinosis cutis is the pathologic deposition of insoluble calcium salt in the skin and subcutaneous tissue. Calcinosis cutis following acne vulgaris is rarely reported in the literature. We report a case of calcinosis cutis in acne vulgaris in a 55-year-old man.

  10. Calcinosis cutis secondary to facial acne vulgaris: A rare complication.

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    Sahu, Srimanta Kumar; Gupta, Nikhil; Vohra, Suruchi

    2015-12-01

    Acne vulgaris is a common dermatological disease commonly affecting the adolescent and young adults. It is characterized by the presence of pleomorphic skin lesions such as comadones, papules, pustules, and nodules. The common complications are postacne hyperpigmentation and scarring causing psychological impact. Calcinosis cutis is the pathologic deposition of insoluble calcium salt in the skin and subcutaneous tissue. Calcinosis cutis following acne vulgaris is rarely reported in the literature. We report a case of calcinosis cutis in acne vulgaris in a 55-year-old man.

  11. 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.

  12. Unusual Idiopathic Calcinosis Cutis Universalis in a Child

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    Derya Alabaz

    2009-08-01

    Full Text Available Calcinosis cutis is an uncommon disorder characterized by the progressive deposition of crystals of calcium phosphate (hydroxyapatite in the skin in various areas of the body. It is classified into four types according to etiology, namely as dystrophic if calcium and phosphorus levels are normal and tissue damage is present, as idiopathic if calcium and phosphorus levels are normal and no tissue damage is present, or as metastatic if there is hypercalcemia or hyperphosphatemia. Medical and surgical treatments are options to cure calcinosis cutis. Medical therapy is not very effective. Surgical excision has shown to be beneficial, as it can provide a symptomatic relief. However, since calcinosis cutis limits are not always well defined, a recurrence of the lesions may occur. We dealt with a very rare form of calcinosis cutis in a healthy 6-year-old girl. There was no evidence of connective tissue disorder or abnormal mineral metabolism. Hence, she was diagnosed as idiopathic calcinosis cutis and, although calcifications in idiopathic cutis are most commonly localized to one area, our patient unusually exhibited widespread calcific deposits. Although the existing lesions showed slow improvement, systemic pamidronate therapy was effective in preventing the occurrence of new lesions. Surgical excision proved to be an effective and successful treatment. This report aims to raise doctors’ awareness on the presentation, etiopathogenesis, and course of the relatively rare idiopathic calcinosis cutis.

  13. Ultrastructural study of calcinosis universalis with dermatomuositis

    Energy Technology Data Exchange (ETDEWEB)

    Kawakami, T.; Nakamura, C.; Hasegawa, H.; Eda, S.; Akahane, S.; Yamazaki, T.; Takasu, N.

    1986-01-01

    Calcinosis universalis associated with dermatomyositis occurred in a 58-year-old woman. Tissues removed from the sublingual region in the patient were studied by ordinary microscopy, electron microscopy, and an electron-microanalytic method. The calcified materials were distributed on collagen fibers and seemed to have a relationship with foci of fibrinoid degeneration. Moreover, globular and/or membranous structures, considered to originate from the degenerate cells of the stroma, were observed in these calcified zones. Some of them contained electron-dense materials. Therefore, the globular and/or membranous structures were thought to be concerned with initial calcification in this case. Furthermore, irregular bone tissue was formed adjacent to the calcified masses. In addition, the calcified materials were identified by X-ray diffraction examination and electron microscopy as hydroxyapatite.

  14. 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.

  15. Calcinosis circumscripta in a captive African cheetah (Acinonyx jubatus)

    Institute of Scientific and Technical Information of China (English)

    Chisoni Mumba; David Squarre; Maxwel Mwase; John Yabe; Tomoyuki Shibahara

    2014-01-01

    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.

  16. 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...

  17. 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.)

  18. Ureteral calcinosis in juvenile dermatomyositis: successful precocious surgical management

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    Ricardo J. Duarte

    2006-10-01

    Full Text Available We report a successful surgical intervention to repair bilateral ureteral strictures in a child with juvenile dermatomyositis (JDM and ureteral calcinosis. This is the fourth reported case in medical literature. A 9-year-old-girl with severe JDM, a rare connective tissue disease characterized by skin and muscles vasculitis, was under immunosuppressive therapy. In the course of the disease, she presented recurrent urinary tract infections. Bilateral ureteral dilation was detected by ultrasound (US and intravenous pyelogram (IVP. CT scan showed bilateral ureteral calculus. Ureteroscopy revealed bilateral ureteral calcinosis, confirmed by histopathological analysis. Bilateral double-J stents were placed, resulting in transient improvement of ureteral dilation and infection, but only the surgical removal of abnormal ureteral portions was successful. In conclusion, endourological approach is recommended for diagnosis of urinary tract involvement by JDM because radiological evaluation can be misleading. The immunosuppressive treatment and the resection of damaged ureteral segments have allowed the control of urinary complications.

  19. Generalized calcinosis cutis associated with disseminated paecilomycosis in a dog.

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    Holahan, Melissa L; Loft, K Earl; Swenson, Cheryl L; Martinez-Ruzafa, Ivan

    2008-12-01

    A 4-year-old spayed female mixed breed dog was referred to the Michigan State University, Veterinary Teaching Hospital (MSU-VTH) with vomiting, lethargy and anorexia of 2 weeks duration. Abdominal radiographs and ultrasonography showed hepatosplenomegaly. Cytological evaluation of ultrasound-guided fine needle aspirates of the liver and spleen revealed fungal organisms and pyogranulomatous inflammation; fungal culture documented Paecilomyces variotii infection. The dog received antifungal therapy and supportive care. Multiple firm plaque-like skin lesions, predominantly involving the inguinal region, developed 18 days after initial presentation and were diagnosed histopathologically as calcinosis cutis. While generalized calcinosis cutis has been reported in three dogs with blastomycosis and one dog with leptospirosis, the association with disseminated Paecilomyces spp. infection is novel.

  20. 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.

  1. Ureteral calcinosis in juvenile dermatomyositis: successful precocious surgical management

    OpenAIRE

    Ricardo J. Duarte; Francisco T. Denes; Adriana M. Sallum

    2006-01-01

    We report a successful surgical intervention to repair bilateral ureteral strictures in a child with juvenile dermatomyositis (JDM) and ureteral calcinosis. This is the fourth reported case in medical literature. A 9-year-old-girl with severe JDM, a rare connective tissue disease characterized by skin and muscles vasculitis, was under immunosuppressive therapy. In the course of the disease, she presented recurrent urinary tract infections. Bilateral ureteral dilation was detected by ultrasoun...

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Institute of Scientific and Technical Information of China (English)

    Chisoni; Mumba; David; Squarre; Maxwel; Mwase; John; Yabe; Tomoyuki; Shibahara

    2014-01-01

    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. Calcinosis circumscripta following an injection of proligestone in a Burmese cat.

    Science.gov (United States)

    O'Brien, C R; Wilkie, J S

    2001-03-01

    A 9-month-old speyed Burmese cat was presented with a cutaneous lesion in the dorsal thoracolumbar region. The lesion was characterised by alopecia and whitish deposits within the subcutis and had occurred at the site of a previous progestogen injection (Covinan; Intervet). Excisional biopsy confirmed the diagnosis of calcinosis circumscripta. Recovery of the cat following surgical excision was excellent, with no recurrence of the lesion detected 12 months later. The classification of tissue calcification and the proposed aetiology of calcinosis circumscripta is reviewed. It is concluded that further work is required to determine any link between subcutaneous injections, especially of progestogens, and calcinosis circumscripta.

  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. Idiopathic Calcinosis Cutis over Elbow in a 12-Year Old Child

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    S. K. Venkatesh Gupta

    2013-01-01

    Full Text Available Calcinosis cutis is an uncommon disorder caused by an abnormal deposit of calcium phosphate in the skin in various parts of the body. Four main types of calcinosis cutis have been recognized according to etiology: associated with localized or widespread tissue changes or damage (dystrophic calcification, that associated with an abnormal calcium and phosphorus metabolism (metastatic calcification, not associated with any tissue damage or demonstrable metabolic disorder (idiopathic calcification, and Iatrogenic. Very few cases of idiopathic calcinosis cutis are reported in early childhood in the literature. We report one such case of idiopathic calcinosis cutis over elbow in a 12-year-old female child. Histological examinations of the lesions resected in this case reveal calcium deposits in the dermis, surrounded by foreign body giant cells. Idiopathic calcinosis cutis is a rare phenomenon and occurs in the absence of known tissue injury or systemic metabolic defect. It is important to delineate it from other calcification disorders for further plan of management. Medical therapy in calcinosis cutis is of limited benefit in pediatric age group and poses a challenging problem of postsurgical management.

  7. Scrotal calcinosis: a very rare multiple clinical presentation.

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    Chiummariello, S; Figus, A; Menichini, G; Bellezza, G; Alfano, C

    2009-12-01

    Scrotal calcinosis (SC) is a rare benign disease that affects patients in childhood or early adulthood. It is characterized by slow-growing yellowish-white nodules consisting of deposits of calcium and phosphates, within the scrotal skin. The nodules vary in number, and can be solitary or grouped. Owing to the age of onset and anatomical location, SC may be a source of embarrassment and lead to social isolation. Because of its rarity, the aetiology of SC is still controversial. We report a very rare case of an SC in a 59-year-old white man who presented with multiple nodules with different clinical patterns in the scrotum, which had been present for > 42 years. Despite the rarity and the multiple long-lasting lesions, surgical excision of the scrotal nodules can offer a very good aesthetic outcome in a single procedure even under local anaesthesia.

  8. Discovery of a pseudo tumoral calcinosis in osseous scintigraphy; Decouverte d'une calcinose pseudotumorale en scintigraphie osseuse

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    Ben Fredj, M.; Le Dortz, L.; Esquevin, A.; Chouklati, K.; Bahri, H.; Lenoir, L.; Garin, E. [Centre Eugene-Marquis, Service de medecine nucleaire, 35 - Rennes (France)

    2010-07-01

    Tumoral calcinosis is a cause of calcified soft tissue tumor. These lesions can occur in untreated chronic renal failure but are more frequent and larger in patients undergoing dialysis or transplant. Sometimes there is no clinical context. Some authors limit the diagnosis of calcinosis pseudo tumoral only to the idiopathic form. (N.C.)

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

    Directory of Open Access Journals (Sweden)

    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.

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

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    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.)

  11. [Calcinosis universalis associated with dermatomyositis. A report on five cases (author's transl)].

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    Godeau, P; Herson, S; Ghozlan, R; Bletry, O; Richard, C; Herreman, G

    Five patients with dermatomyositis developed calcinosis universalis, the calcinosis lesions being diffuse in three cases and localized to a subcutaneous site in the other two. The diffuse lesions developed in young subjects with severe dermatomyositis, and increased progressively during recovery from the muscle disease. Treatment was ineffective. Subcutaneous calcifications can be detected at an early stage by technetium pyrophosphate scintigraphy, while the fluid nature of the swellings due to a local inflammatory reaction is proved by ultrasonography. Good results are obtained after excision of those calcified masses requiring removal because of their size, site, or superinfection.

  12. Hyperphosphatemic familial tumoral calcinosis: response to acetazolamide and postulated mechanisms.

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    Finer, Gal; Price, Heather E; Shore, Richard M; White, Kenneth E; Langman, Craig B

    2014-06-01

    Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by enhanced renal phosphate absorption, hyperphosphatemia, and tumor-like extraosseous calcifications due to inactivating mutations in FGF23 or associated proteins. Surgical excision is needed when low phosphate diet and phosphate binders are ineffective. Sporadic reports have supported acetazolamide use. We report on a 7-year-old African American boy who presented with severe HFTC requiring numerous surgical excisions. Tumors continued to appear and others reoccurred despite phosphate restriction and sevelamer carbonate. At the age of 9.5 years, acetazolamide (40 mg/kg/day) was added and resulted in mild metabolic acidosis (bicarbonate 25.3 mEq/L vs. 21.4 mEq/L, P < 0.001; serum pH 7.38 vs. 7.31, P = 0.013, pre- and post-acetazolamide, respectively) but no change in tubular reabsorption of phosphate (TRP) (96.9% vs. 95.9%, P = 0.34) or serum phosphate (6.6 mg/dl vs. 6.9 mg/dl, P = 0.52 pre- and post-acetazolamide, respectively). Following the initiation of acetazolamide therapy, the patient experienced significant improvement in disease course as indicated by resolution of localized bone pain, cessation of tumor formation, and no tumor recurrence. Despite mild metabolic acidosis, our patient had improved linear growth and did not develop any other side effects related to therapy. Intact FGF23 remained abnormally low throughout disease course, while C-terminal FGF23 increased with acetazolamide. We conclude that acetazolamide can control severe HFTC by inducing mild metabolic acidosis despite no change in serum phosphate or TRP. This effect may be exerted though improved calcium-phosphate complex solubility and increased FGF23 locally.

  13. Milia-like calcinosis cutis in a girl with Down syndrome*

    Science.gov (United States)

    Solak, Berna; Kara, Rabia Oztas; Vargol, Erdem

    2016-01-01

    Milia-like idiopathic calcinosis cutis (MICC) is a very rare dermatological disorder characterized by multiple whitish to skin colored, milia-like papules, mostly found on the hands. MICC can disappear spontaneously by adulthood; therefore, its early recognition is crucial to avoiding unnecessary interventions. Herein, we present a case of MICC in a 6-year-old girl with Down syndrome. PMID:27828644

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

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    Fatma, Lilia Ben; El Ati, Zohra; Azzouz, Haifa; Rais, Lamia; Krid, Madiha; Smaoui, Wided; Maiz, Hédi Ben; Béji, Soumaya; Zouaghi, Karim; Zitouna, Moncef; Moussa, Fatma Ben

    2014-09-01

    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 subcutaneous 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 nadroparin 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 calciphylaxis, outcome is favorable.

  15. 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.

  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. Lower extremity lipedema, upper extremity lipodystrophy and severe calcinosis complicating juvenile dermatomyositis.

    Science.gov (United States)

    Pavlov-Dolijanovic, Slavica R; Vujasinovic Stupar, Nada Z; Gavrilov, Nikola; Seric, Srdjan

    2014-11-01

    Juvenile dermatomyositis (JDM) is a rare but complex and potentially life-threatening autoimmune disease of childhood. Significant proportions of patients have residual weakness, muscle atrophy, joint contractures, and calcinosis. Recently, new clinical findings, such as lipodystrophy accompanied with increased fat deposition in certain areas, have been reported. So far, it is not known whether the redistribution of body fat may be the type of lipedema of lower extremity. We describe a 39-year-old woman who was diagnosed with JDM at the age of 7. Later she developed symmetrical lipodystrophy of upper extremities and symmetrical lipedema of lower extremities (making 2 and 58.3 % of total body fat mass, respectively), with multiple calcified nodules in the subcutaneous tissues. These nodules gradually increased in size despite therapy. Capillaroscopy findings showed scleroderma-like abnormalities. ANA and anti-U1RNP antibodies were positive. Similar cases with simultaneous occurrence of the lipedema of lower extremities, lipodystrophy of upper extremities, and severe calcinosis complicating JDM have not been published so far. We showed that the calcinosis and lipodystrophy were associated with short duration of active disease. Also, we display case that raises the question whether it is possible overlapping autoimmune diseases revealed during follow-up.

  18. Dystrophic calcinosis with both a huge calcified mass in the cervical spine and calcification in the chest wall in a patient with rheumatoid overlap syndrome.

    Science.gov (United States)

    Nakamura, Tadashi; Hirakawa, Kei; Takaoka, Hirokazu; Iyama, Ken-Ichi

    2016-05-01

    Dystrophic calcinosis in soft tissue occurs in damaged or devitalized tissues in the presence of normal calcium and phosphorous metabolism. It is often noted in subcutaneous tissues in patients with collagen vascular diseases and may involve a relatively localized area or be widespread. A 74-year-old Japanese woman with an overlap of rheumatoid arthritis, Sjögren's syndrome, and systemic sclerosis developed a huge tumor-like mass at the atlanto-axial vertebral joint region that caused severe cervical pain and difficulty in activities of daily living. She also had subcutaneous dystrophic calcification in the soft tissue of the chest wall. Calcinosis associated with systemic sclerosis is a well-recognized phenomenon, but a destructive paraspinal tumor in the cervical spine associated with overlap syndrome is extremely unique. Because calcinosis in spinal locations can be complicated by neurological involvement, patients with progressive symptoms may require surgical intervention. Surgical resection and biological therapy improved this patient's life and activities of daily living. Calcinosis is common in the conditions reviewed here, and different agents have been used for treatment. However, calcinosis management is poorly organized and lacks an accepted classification, systematic studies, and clinical therapeutic trials. The association of calcinosis and collagen vascular diseases is clinically and etiologically important. Although a combination of calcinosis and rheumatoid overlap syndrome is rare, various collagen vascular diseases may occur simultaneously. A perceptive diagnostic approach toward these diseases is critical, and early diagnosis and treatment are needed to prevent dystrophic calcinosis.

  19. Greater trochanteric pain syndrome due to tumoral calcinosis in a patient with chronic kidney disease.

    Science.gov (United States)

    Baek, Dongjin; Lee, Sang Eun; Kim, Woo-Jin; Jeon, Sanghoon; Lee, Kihwa; Jung, Jaewook; Joo, Hyunchul; Park, Jaehong; Kim, Yonghan; Choi, Young-gyun

    2014-01-01

    Tumoral calcinosis is a rare syndrome characterized by massive subcutaneous soft tissue deposits of calcium phosphate near the large joints. It is more prevalent in patients with chronic kidney disease undergoing dialysis. A 57-year-old woman was referred to our pain clinic with the complaint of severe pain in the left buttock and lateral hip. The patient had been suffering from chronic kidney disease for 10 years and had been undergoing peritoneal dialysis over the past 5 years. The patient's symptom was initially suspected to be of lumbar origin at the L5 level and a left L5 transforaminal epidural block was performed, but without success. Re-evaluation of the physical examination revealed severe tenderness over the left greater trochanter and piriformis muscle. On ultrasonographic evaluation, multiple mass-like lesions in the left buttock were observed. About 30 mL of fluid was aspirated from the cystic lesions, followed by 30 mL mixture of 0.08% levobupivacaine and triamcinolone 40 mg injected into the bursa under ultrasound guidance, which brought pain relief. Trochanteric bursitis was thought of as the cause of the symptoms. The patient was diagnosed with tumoral calcinosis based on the past medical history, simple plain radiographs, and hip magnetic resonance imaging (MRI). We diagnosed a case of greater trochanteric pain syndrome due to tumoral calcinosis related to chronic kidney disease in a patient whose symptoms had initially been considered to be radiating leg pain caused by lumbar spinal disease. We report our experience of symptomatic improvement following the repeated ultrasound-guided aspiration of calcific fluid and the injection of a mixture of local anesthetic and steroid.

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

    Directory of Open Access Journals (Sweden)

    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.

  1. Idiopathic calcinosis of the scrotum: Scanning electron microscopic study with x-ray microanalysis

    Energy Technology Data Exchange (ETDEWEB)

    Fuezesi, L.H.; Hollweg, G.; Lagrange, W.; Mittermayer, C. (Technical Univ., Aachen (West Germany))

    1991-03-01

    In a 31-year-old man 12 nodules up to 1 cm in diameter were observed in the scrotum; these had developed over 3 years. Energy-dispersive x-ray analysis of the dermal foci showed a high content of calcium and phosphorus even in nodules smaller than 1 mm in diameter. No increased mineral deposition was observed in the surrounding connective tissue, however. Scanning electron microscopy revealed finely granulated crystals, and cellular remnants giving rise to development of calcified nodules were disclosed. The results support the hypothesis of a degenerative origin of scrotal calcinosis.

  2. Calcinosis enzoótica en rumiantes: un problema vigente de la ganadería nacional

    OpenAIRE

    2000-01-01

    La calcinosis enzoótica en rumiantes en la Argentina: etiología, epidemiología, sintomatología, anatomía patológica, patogenia, diagnóstico, control, impacto en la economía. Academia Nacional de Agronomía y Veterinaria

  3. [Visco-elastic characteristics of the aorta in conscious dogs in a model of experimental calcinosis].

    Science.gov (United States)

    Armentano, R; Levenson, J; Cabrera, E; Pichel, R; Simon, A

    1989-07-01

    Effects of experimental calcinosis induced by daily overdose of 500.000 IU Vit D3 during 10 days were studied in 6 mongrel conscious dogs chronically instrumented with intra-aortic Konigsberg microtransducer and two ultrasonic piezo-electric crystals diametrically opposed in the adventitia of the descending thoracic aorta. Simultaneous recording of instantaneous aortic pressure and diameter waves in basal state and during transient acute hypertension induced by intravenous angiotensin bolus (0.1 microgram/kg) allowed to obtain the pressure (y) diameter (x) relationship of the aorta according to an exponential regression: P = expo (beta D + A), with a highly significant correlation coefficient in all animals (r greater than 0.99). (table; see text) Anatomopathological studies of aortas revealed abnormal calcium deposition, ruptures of elastic fibers and disorganization of collagen. Thus, a striking decrease in aortic rigidity is observed after calcinosis in relation with structural changes of elastic materials and responsible in part for a reduction in pulsatile pressure; moreover this unexpected phenomena might represent an initiative process of development of aortic aneurysms.

  4. 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)

  5. Hypercalcemia and calcinosis in Florida horses: implication of the shrub, Cestrum diurnum, as the causative agent.

    Science.gov (United States)

    Krook, L; Wasserman, R H; Shively, J N; Tashjian, A H; Brokken, T D; Morton, J F

    1975-01-01

    A chronic debilitating disease is described in Florida horses. There is progress weight loss and lameness of increasing severity. Plasma calcium is elevated to moderate or severe degree. Anatomical changes include dystrophic calcinosis of elastic tissues, viz. major arteries, tendons and ligaments. A generalized osteopetrosis is present and may be related to hypoparathyroidsim and hypercalcitoninism. The presence of Cestrum diurnum (day-blooming jessamine, day cestrum, wild jasmin) in areas accessible to affected animals, the observation that leaves of the plant were stripped in these areas, and the finding of a potent, active vitamin D-like substance in this plant constitute strong evidence that Cestrum diurnum is the agent causing the abnormalities of mineral metabolism.

  6. Root anomalies and dentin dysplasia in autosomal recessive hyperphosphatemic familial tumoral calcinosis (HFTC)

    Science.gov (United States)

    Vieira, Alexandre R.; Lee, Moses; Vairo, Filippo; Leite, Julio Cesar Loguercio; Munerato, Maria Cristina; Visioli, Fernanda; D’Ávila, Stéphanie Rodrigues; Wang, Shih-Kai; Choi, Murim; Simmer, James P.; Hu, Jan C-C.

    2015-01-01

    Hyperphosphatemic familial tumoral calcinosis (HFTC, OMIM #211900) is an autosomal recessive metabolic disorder characterized by hyperphosphatemia, tooth root defects, and the progressive deposition of calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone.1 In this HFTC case report, we document the dental phenotype associated with a homozygous missense mutation (g.29077 C>T; c.484 C>T; p.Arg162*) in GALNT3 (OMIM 6017563), a gene encoding UDP-GalNAc transferase 3 that catalyzes the first step of O-linked oligosaccharide biosynthesis in the Golgi. The medical and dental pathology is believed to be caused primarily by high serum phosphate levels (hyperphosphatemia), which, in turn, is caused by failure of GALNT3 to glycosylate the phosphate regulator protein FGF23, impairing its ability inhibit reabsorption of filtered phosphate in the kidneys. PMID:26337219

  7. Metastatic Calcinosis Cutis: A Case in a Child with Acute Pre-B Cell Lymphoblastic Leukemia

    Directory of Open Access Journals (Sweden)

    Juan Pablo Castanedo-Cázares

    2015-01-01

    Full Text Available Hypercalcemia in children with malignancy is an uncommon condition. It has been described in leukemia patients with impaired renal excretion of calcium or osteolytic lesions. Metastatic calcinosis cutis (MCC may develop if hypercalcemia persists. We report the case of a 5-year-old girl with an atypical dermatosis and unspecific gastrointestinal symptoms. Considered clinical diagnoses were xanthomas, histiocytosis, molluscum contagiosum, and nongenital warts. Cutaneous histological analysis showed amorphous basophilic deposits in the dermis suggestive of calcium deposits. Laboratory tests confirmed serum hypercalcemia. Extensive investigations such as bone marrow biopsy established the diagnosis of an acute pre-B cell lymphoblastic leukemia. Hypercalcemia in hematopoietic malignancies is unusual, especially as initial manifestation of the disease. Careful review of the literature fails to reveal previous reports of these peculiar cutaneous lesions of MCC in children with leukemia.

  8. 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

  9. GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity

    OpenAIRE

    2008-01-01

    GALNT3, a gene associated with Hyperphosphatemic Familial Tumoral Calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity correspondence: Corresponding author. Laboratory of Molecular Dermatology Department of Dermatology Rambam Medical Center POB 9602, Haifa 31096, Israel. Tel.: +972 4 8541919; fax: +972 4 8542951. (Sprecher, Eli) (Sprecher, Eli) Labo...

  10. 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.

  11. 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.)

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

    Science.gov (United States)

    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.

  13. Frequência elevada de calcinose em dermatomiosite juvenil: estudo de fatores de risco High frequency of calcinosis in juvenile dermatomyositis: a risk factor study

    Directory of Open Access Journals (Sweden)

    Gleice Clemente

    2012-08-01

    Full Text Available OBJETIVO: Avaliar a frequência de calcinose em pacientes com dermatomiosite juvenil, bem como estudar possíveis fatores de risco para essa manifestação. MÉTODOS: Revisão de prontuários de 34 pacientes, com ênfase nas características demográficas, clínicas e laboratoriais, tipo de tratamento e adesão, tipo de evolução (monocíclico, crônico e policíclico e gravidade da doença. Os pacientes foram separados em grupos: aqueles que desenvolveram calcinose (até o sexto mês de acompanhamento ambulatorial e após seis meses de acompanhamento e os que não desenvolveram calcinose. Vinte e sete pacientes fizeram dois exames de capilaroscopia periungueal (CPU, os quais foram considerados alterados quando era encontrado padrão escleroderma. RESULTADOS: A média de idade de início dos sintomas dos 34 pacientes foi de 6,5 anos, e o tempo até o diagnóstico foi de 1,2 anos. Setenta por cento eram meninas. Metade dos pacientes teve curso monocíclico da doença, e apenas 14,7% tiveram vasculite grave. Quase 90% dos pacientes que realizaram CPU tiveram alteração na primeira avaliação, e 74% tiveram alteração na segunda avaliação, com uma média de 1,6 anos entre as duas. Dezesseis (47,1% pacientes apresentaram calcinose. Não houve associação entre as variáveis analisadas e o desenvolvimento da calcinose. CONCLUSÃO: Não conseguimos demonstrar a presença de fatores de risco para calcinose, apesar de termos encontrado uma frequência dessa complicação em cerca de metade dos pacientes com dermatomiosite juvenil.OBJECTIVE: To assess the frequency of calcinosis in patients with juvenile dermatomyositis, and the possible risk factors for that manifestation. METHODS: Medical record review of 34 patients, with an emphasis on the following characteristics: demographic, clinical and laboratory data; type of treatment; adherence to treatment; disease course (monocyclic, chronic and polycyclic; and disease severity. Patients were

  14. 成人皮肌炎伴钙质沉积六例临床分析%The study of clinical manifestations of calcinosis in adult dermatomyositis

    Institute of Scientific and Technical Information of China (English)

    江薇; 章璐; 王国春

    2015-01-01

    Objective To review the literature of calcinosis in adult dermatomyositis(DM)and find out the characters of DM.Methods We use the clinical data of 6 patients of calcinosis in adult dermatomyositis diagnosed in our hospital from Feburary,2008 to December,2014.Results Among 6 pa-tients,there were 1 male and 5 female.The mean age of 6 patients diagnosed dermatomyositis was(24 ±10) years and the average time of development of calcium deposition was(35 ±36)months.The most common site of calcium deposition was limbs,followed by trunk and armpits.3 cases complicated with femoral head necrosis and 1 case had nuclear matrix protein 2 (NXP-2)antibody positive.All of them were given pamidronate treatment,3 cases’patients were effectively treated.Conclusion Calcinosis in dermatomyo-sitis associated with earlier year of onset,longer duration,repeated activity of disease and positive NXP-2. Pamidronate is an apparently safe and effective treatment for calcinosis management in adult dermatomyositis.%目的:回顾相关文献并研究成人皮肌炎伴钙质沉积的病例特点。方法分析2008年2月~2014年12月我科收治的6例成人皮肌炎合并钙质沉积患者临床特点及治疗随访情况。结果6例患者男性1例,女性5例;皮肌炎平均起病年龄(24±10)岁;出现钙质沉积平均时间(35±36)个月;钙质沉积最常见出现的部位在四肢,其次在躯干和腋窝;3例合并股骨头坏死;1例抗核基质蛋白2(NXP-2)抗体阳性;6例患者均给予帕米膦酸钠治疗,3例治疗有效。结论起病年龄小、病程长、病情反复活动以及抗 NXP-2抗体阳性与皮肌炎钙质沉积有关,帕米膦酸钠治疗有效且无明显不良反应。

  15. 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

  16. 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.

  17. 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.

  18. Uso do clodronato endovenoso na calcinose difusa em uma criança com síndrome de superposição esclerose sistêmica e dermatomiosite Use of clodronate in extensive calcinosis in a child with systemic sclerosis and dermatomyositis overlap

    Directory of Open Access Journals (Sweden)

    Gláucio R. Werner de Castro

    2004-02-01

    Full Text Available Os autores descrevem o caso de uma garota negra, com diagnóstico de síndrome de superposição dermatomiosite e esclerose sistêmica, que desenvolveu calcinose difusa, complicada por infecções secundárias e significativa limitação funcional de membros. Tratamento com colchicina, diltiazem e alendronato sódico não se mostrou eficaz no controle da calcinose, requerendo uso endovenoso bimestral de clodronato, que contribuiu para significativa melhora na cicatrização das úlceras cutâneas e na qualidade de vida.The authors report an Afro-Brazilian girl with systemic sclerosis and dermatomyositis overlap who evolved with extensive calcinosis, complicated by secondary infections and important disability. Treatment with colchicine, diltiazem and sodium alendronate was not effective in the control of calcinosis, requiring the use of bimonthly intravenous doses of clodronate that resulted in significant improvement in the healing of cutaneous ulcers and in the quality of life of the patient.

  19. 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.

  20. Calcinosis en Esclerosis Sistémica

    OpenAIRE

    Tamara Caínzos Romero; Sabela Sánchez Trigo

    2014-01-01

    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 ...

  1. TUMOR CALCINOSIS : A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Kammar

    2015-04-01

    Full Text Available A 15 year old male Arun Suresh K ammar patient presented with the chief complaints of right elbow swelling with discharging sinus since 5 years . Left elbow swelling and ulcer over left gluteal region since 3 years . Patient noticed gradually progressive, painless swelling over right elbow 5 years back and left gluteal region 3 years back for which he underwent surgery 4 and 3 years back respectively. One year latter patient developed gradually progressive diffuse swelling at left elbow with painful left elbow joint movement. Blood investigations were normal except raised phosph orus - 6.8mg/dl(N - 2.5 - 4.5mg/dl and Alkaline phosphatase - 52IU/L(N - 20 - 40IU/L.Total excision was done for the left elbow and left gluteal region (periarticular swelling and right elbow swelling subsided by itself.

  2. 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.

  3. Calcinosis Cutis, Renal Insufficiency and Low-Molecular-Weight Calcium Containing Heparins

    OpenAIRE

    2014-01-01

    Foi solicitada observação por Dermatologia de uma doente de 35 anos de idade, de raça negra, por 2 nódulos subcutâneos localizados na região paraumbilical direita e flanco direito com 2 semanas de evolução. Da história prévia, destaque para doença renal crónica em programa de hemodiálise e infeção pelo vírus da imunodeficiência humana (VIH-1). Ao exame objetivo observaram-se 2 nódulos bem delimitados, subcutâneos, sem alteração da coloração; à palpação, estes eram dolorosos, de consistê...

  4. 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.

  5. 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.

    2008-01-01

    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

  6. 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.

  7. Subepidermal calcified nodule in upper eyelid: A case report and review of the literature

    Science.gov (United States)

    Samaka, Rehab Monir; Al-Madhani, Ali; Hussian, Shereen Ossman

    2015-01-01

    Calcinosis cutis involves the inappropriate deposition of calcium within the dermis layer of the skin and is often associated with autoimmune diseases. A 3-year-old healthy Omani child presented for evaluation of asymptomatic hard nodule on the left upper eyelid. Pathological examination identified the mass as subepidermal calcified nodule. The patient had no history of trauma or metabolic disturbances. Serum levels of calcium and phosphate were normal. Idiopathic calcinosis cutis should be included in the differential diagnosis for eye lid mass. PMID:25709278

  8. Subepidermal calcified nodule in upper eyelid: A case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Rehab Monir Samaka

    2015-01-01

    Full Text Available Calcinosis cutis involves the inappropriate deposition of calcium within the dermis layer of the skin and is often associated with autoimmune diseases. A 3-year-old healthy Omani child presented for evaluation of asymptomatic hard nodule on the left upper eyelid. Pathological examination identified the mass as subepidermal calcified nodule. The patient had no history of trauma or metabolic disturbances. Serum levels of calcium and phosphate were normal. Idiopathic calcinosis cutis should be included in the differential diagnosis for eye lid mass.

  9. Platelet serotonin in systemic sclerosis.

    OpenAIRE

    Klimiuk, P S; Grennan, A; Weinkove, C.; Jayson, M I

    1989-01-01

    Platelet serotonin concentrations were measured in 43 patients with systemic sclerosis, in 11 patients with primary Raynaud's phenomenon, and in 38 normal controls. Patients with the CREST variant (calcinosis, Raynaud's phenomenon, oesophageal dysmotility, sclerodactyly, telangiectasia) had significantly lower platelet serotonin concentrations than normal controls. Patients with diffuse systemic sclerosis had normal platelet serotonin concentrations. In patients with CREST treatment with keta...

  10. 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, scl...

  11. 特发性基底节钙化

    Institute of Scientific and Technical Information of China (English)

    谭泽兵; 杨建洪; 刘金贵; 杨建宝; 廖新宇

    2011-01-01

    @@ 特发性基底节钙化(idiopathic basal ganglia calcifications,IBGC)是一种少见病,又称血管性铁钙质沉着症(cerebrovascular ferrocalcinosis)、进行性苍白球齿状核钙化症(progressive strio-pallido-dentate calcinosis)、家族性特发性基底节钙化(familial idiopathic basal ganglia calcifications,FIBGC)、特发性双侧纹状体-苍白球-齿状核钙质沉着(idiopathic bilateral striatopallidodentate calcinosis,IBSPDC)、特发性非动脉硬化性脑组织钙化(idiopathic nonarteriosclerotic cerebral calcification,INASCC).

  12. 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

  13. [Kidney and bone update : the 5-year history and future of CKD-MBD. Disorders of musculoskeletal system in CKD ; bone fracture and periarticular calcification].

    Science.gov (United States)

    Yamada, Shunsuke; Taniguchi, Masatomo

    2012-07-01

    Chronic kidney disease-mineral and bone disorder (CKD-MBD) affects life expectancy through vascular calcification, and impairs patient's activity of daily living (ADL) and quality of life (QOL) through bone fracture and periarticular calcification. In CKD patients, vitamin D deficiency and secondary hyperparathyroidism impairs bone strength, and muscle dysfunction related to vitamin D deficiency also causes easy fall, leading to the high risk of bone fracture. Bone fracture not only aggravates ADL and QOL but increases the risk of mortality. Periarticular calcification such as tumoral calcinosis in relation to CKD-MBD causes restricted range of articular motion, leading to the deterioration of patient's ADL and QOL. Because bone fragility and tumoral calcinosis occurs in relation to CKD-MBD, the appropriate management of CKD-MBD is madatory.

  14. Idiopathic Hypoparathyroidism associated Fahrs Disease: Two Case Reports and Review of the Literature

    OpenAIRE

    Mehtap Evran; Gamze Akkus; Murat Sert; Tamer Tetiker

    2015-01-01

    Bilateral Striopallidodentat Calcinosis also called Fahrs disease (FH); basal ganglia, thalamus, and cerebellar dentate nucleus is a disease characterized by symmetric calcifications in the cerebral white matter. Calcifications are often drawn attention in brain imaging for other reasons. The disease can progress with clinically variable neurological or neuro-psychiatric symptoms. Fahrs disease are believed to be associated with anoxia, radiation, systemic diseases, toxins calcium metabolism ...

  15. Arthroscopic treatment of chronically painful calcific tendinitis of the rectus femoris

    OpenAIRE

    2013-01-01

    Background Relatively large calcific tendinitis with persistent symptoms after extended periods of conservative treatment is an indication for operative therapy. Arthroscopy, as a treatment for calcific tendinitis of the hip abductors and calcinosis circumscripta, has been described previously; however, to our knowledge, the clinical and radiological response to arthroscopic removal of calcific tendinitis of the rectus femoris tendon has not. Methods We present arthroscopic treatment of unusu...

  16. Analytical Electron Microscopic Study of Mineral Deposits in a Case of Calcionsis Universalis

    OpenAIRE

    KAWAKAMI, TOSHIYUKI; NAKAMURA, CHIHITO; Hasegawa, Hiromasa; EDA, SHIGEO

    1988-01-01

    Calcinosis universalis with dermatomyositis occurred in a 58-year-old woman. Tissues removed from the patient's sublingual region were studied mainly by analytical electron microscopic methods. According to an elemental analysis using a wavelength dispersive X-ray spectroscope, most of the mineral deposits contained the elements sodium, phosphorus, calcium, rhenium, and some deposits also contained sulphur and magnesium. The elements sodium, sulphur, chlorine, and calcium were found in the st...

  17. Medical image of the week: CREST plus ILD

    OpenAIRE

    Oliva I; Knox KS

    2013-01-01

    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 predomi...

  18. Fibroblast growth factor 23--et fosfatregulerende hormon

    DEFF Research Database (Denmark)

    Beck-Nielsen, Signe Sparre; Pedersen, Susanne Møller; Kassem, Moustapha

    2010-01-01

    Fibroblast growth factor 23 (FGF23) is a recently identified phosphatonin. Its main physiological functions are to maintain serum phosphate within its reference range and to counter regulate the effects of vitamin D. Diseases correlated to high serum values of FGF23 are hypophosphatemic rickets......, fibrous dysplasia, and tumour-induced osteomalacia. In contrast, hyperphosphatemic tumoral calcinosis is associated with accelerated degradation of FGF23. Measuring FGF23 serves as a differential diagnostic tool in elucidating conditions of long-lasting hypophosphatemia....

  19. CREST syndrome and periodontal surgery: a case report.

    Science.gov (United States)

    Stanford, T W; Peterson, J; Machen, R L

    1999-05-01

    CREST syndrome is a slowly progressive form of systemic scleroderma. It is characterized by calcinosis cutis, Raynaud's phenomenon, esophageal involvement, sclerodactyly, and telangiectasia. There are limited reports of dental treatment for patients with this syndrome, and no reports of periodontal surgical procedures. This paper presents a case report of periodontal surgical treatment in a 38-year-old female patient with CREST syndrome, and a discussion of the clinical manifestations of the syndrome as they relate to dental treatment.

  20. Dystrophic calcifications and Raynaud’s phenomenon in an eight-year old girl

    Directory of Open Access Journals (Sweden)

    Grebeldinger Slobodan P.

    2014-01-01

    Full Text Available Introduction. Dystrophic calcifications are the most common subtype of skin calcinosis. Tumorous soft tissue calcium deposits usually contain hydroxyapatite and amorphous calcium phosphate. Differential diagnosis of skin calcinosis encompasses Thibierge-Weissenbach syndrome, systemic sclerosis, scleroderma, CREST syndrome (calcinosis, Raynaud’s phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia, dermatomyositis, systemic lupus erythematosus, ad myositis ossificans progressiva. Case Outline. We present the case of an eight-year old girl with tumorous soft tissue calcium deposits and Raynaud’s phenomenon. At the age of 3.5 years, our patient was admitted to Pediatric Surgery Clinic because of bilateral acrocyanosis localized at the fingertips area of hands, with the signs of vascular trauma. Therapy with vasodilators and hyperbaric oxygen treatment were completed. This therapy resulted in improvement. At the age of eight, the patient was admitted again due to intermittent, painful cramps localized in both hands. Punctiform deposits were present at the tips of fingers and toes, which looked like calcifications and were spontaneously eliminated, with the remnants of crater-shaped defects. A hard tumorous deformity localized in soft tissue was present in the extensor area of the right elbow. Laboratory indicators of inflammation were within the reference values, and antinuclear antibodies were positive. A nodus localized at the right elbow was extirpated. Pathohistological findings: connective and fat tissue with large deposits of calcium. Conclusion. Further follow-up of our patient is necessary due to possible development of complete picture of CREST syndrome or systemic sclerosis.

  1. Esclerosis sistémica

    OpenAIRE

    Méndez Rodriguez, Alexis

    2013-01-01

    La esclerosis sistémica es una conectivopatía crónica, multisistémica, con un amplio espectro de manifestaciones clínicas y cuya morbimortalidadestá determinada por el grado de compromiso visceral. La patogenia es desconocida, pero se plantea una interacción entre factores genéticospredisponentes y desencadenantes ambientales.Su presentación clínica más frecuente es la conocida como Síndrome de CREST, acrónimo de calcinosis, fenómeno de Raynaud, trastornode motilidad esofágica, esclerodactili...

  2. Idiopathic Hypoparathyroidism associated Fahrs Disease: Two Case Reports and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Mehtap Evran

    2015-12-01

    Full Text Available Bilateral Striopallidodentat Calcinosis also called Fahrs disease (FH; basal ganglia, thalamus, and cerebellar dentate nucleus is a disease characterized by symmetric calcifications in the cerebral white matter. Calcifications are often drawn attention in brain imaging for other reasons. The disease can progress with clinically variable neurological or neuro-psychiatric symptoms. Fahrs disease are believed to be associated with anoxia, radiation, systemic diseases, toxins calcium metabolism disorders, and encephalitis. We presented two cases with primary hypoparathyroidism were diagnosed and detected of neurological problems, cerebral and cerebellar calcifications on imaging. [Cukurova Med J 2015; 40(4.000: 836-840

  3. Management of Systemic Sclerosis-Related Skin Disease: A Review of Existing and Experimental Therapeutic Approaches.

    Science.gov (United States)

    Volkmann, Elizabeth R; Furst, Daniel E

    2015-08-01

    The skin is the most common organ system involved in patients with systemic sclerosis (SSc). Nearly all patients experience cutaneous symptoms, including sclerosis, Raynaud's phenomenon, digital ulcers, telangiectasias, and calcinosis. In addition to posing functional challenges, cutaneous symptoms are often a major cause of pain, psychological distress, and body image dissatisfaction. The present article reviews the main features of SSc-related cutaneous manifestations and highlights an evidence-based treatment approach for treating each manifestation. This article also describes novel treatment approaches and opportunities for further research in managing this important clinical dimension of SSc.

  4. Skin and bones. I.

    Science.gov (United States)

    Orlow, S J; Watsky, K L; Bolognia, J L

    1991-08-01

    Skin disorders in which a radiograph may detect associated bony changes or abnormalities of calcification are discussed. They are grouped into eight categories: (1) inherited diseases (e.g., alkaptonuria, neurofibromatosis); (2) congenital disorders (e.g., Sturge-Weber and Proteus syndromes); (3) inflammatory conditions (e.g., dermatomyositis, sarcoidosis); (4) infections (e.g., dental sinus, syphilis); (5) neoplasias (e.g., histiocytosis, mastocytosis); (6) drug- and environment-induced (e.g., acroosteolysis, retinoid toxicity); (7) calcinosis cutis; and (8) osteoma cutis. Part I of our review discusses the first two categories.

  5. Skin and bones. II.

    Science.gov (United States)

    Orlow, S J; Watsky, K L; Bolognia, J L

    1991-09-01

    Skin disorders in which a radiograph may detect associated bony changes or abnormalities of calcification are discussed. They are grouped into eight categories: (1) inherited diseases (e.g., alkaptonuria, neurofibromatosis); (2) congenital disorders (e.g., Sturge-Weber and Proteus syndromes); (3) inflammatory conditions (e.g., dermatomyositis, sarcoidosis); (4) infections (e.g., dental sinus, syphilis); (5) neoplasias (e.g., histiocytosis, mastocytosis); (6) drug- and environment-induced (e.g., acroosteolysis, retinoid toxicity); (7) calcinosis cutis; and (8) osteoma cutis. The first part of this review, published in the August 1991 issue of this JOURNAL, dealt with the first two categories; part II discusses categories 3 through 8.

  6. Juvenile idiopatiske inflammatoriske myopatier

    Directory of Open Access Journals (Sweden)

    Helga Sanner

    2009-10-01

    Full Text Available Juvenile idiopathic inflammatory myopathies (JIIM is a group of rare autoimmune systemic diseases in children and adolescents, characterized by chronic skeletal muscle inflammation. Unlike in adults, dermatomyositis (JDM is by far the most common of the idiopathic inflammatory myopathies in children and adolescents. The hallmark of JDM is calcinosis, lipodystrophy and vasculitis, findings that differs the juvenile form of dermatomyosits from the adult form. JDM is still diagnosed and classified by Bohan and Peter’s criteria from 1975. There are limited data on long time outcome of this disease

  7. Fibroblast growth factor 23 - et fosfatregulerende hormon

    DEFF Research Database (Denmark)

    Beck-Nielsen, Signe; Pedersen, Susanne Møller; Kassem, Moustapha

    2010-01-01

    Fibroblast growth factor 23 (FGF23) er et nyligt identificeret fosfatonin. FGF23's fysiologiske hovedfunktion er at opretholde normalt serumfosfat og at virke som et D-vitaminmodregulatorisk hormon. Sygdomme, der er koblet til forhøjet serum FGF23, er hypofosfatæmisk rakitis, fibrøs dysplasi og...... tumorinduceret osteomalaci. Hyperfosfatæmisk familiær tumoral calcinosis er derimod associeret med forhøjet nedbrydning af FGF23. Måling af FGF23 er et differentialdiagnostisk redskab ved udredning af tilstande med længerevarende hypofosfatæmi. Udgivelsesdato: 2010-May 17...

  8. [Vascular Calcification - Pathological Mechanism and Clinical Application - . Regulation of mineral metabolism and mineralization by FGF23].

    Science.gov (United States)

    Fukumoto, Seiji

    2015-05-01

    Fibroblast growth factor 23 (FGF23) decreases serum phosphate by inhibiting proximal tubular phosphate reabsorption and intestinal phosphate absorption through the reduction of serum 1,25-dihydroxyvitamin D [1,25 (OH) (2)D] levels. Excessive actions of FGF23 cause hypophosphatemic diseases with impaired mineralization of bone. On the other hand, impaired actions of FGF23 result in hyperphosphatemic familial tumoral calcinosis characterized by hyperphosphatemia and high 1,25 (OH) (2)D levels. Ectopic calcification around large joints and in blood vessels can be observed in patients with this disease. Therefore, FGF23 plays essential roles in the regulation of bone mineralization and prevention of ectopic calcification.

  9. 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.

  10. Studies on the 1. cap alpha. ,25-dihydroxycholecalciferol-like activity in a calcinagenic plant, Cestrum diurnum, in the chick

    Energy Technology Data Exchange (ETDEWEB)

    Wasserman, R.H. (Cornell Univ., Ithaca, NY); Corradino, R.A.; Krook, L.; Hughes, M.R.; Haussler, M.R.

    1976-04-01

    Cestrum diurnum (day-blooming jessamine) has been proposed to cause calcinosis in horses and cattle in Florida. The present studies investigated some physiological properties of the plant, using the chick as the experimental animal. The inclusion of dried leaf powder in a rachitogenic diet restored intestinal calcium-binding protein synthesis (CaBP) and increased calcium absorption in the cholecalciferol-deficient chick. The estimated level of cholecalciferol-equivalents in the dried leaf was about 30,000 to 35,000 IU/kg. Most of the activity was extractable with methanol : chloroform (2:1), indicating that the major cholecalciferol-like component in C. diurnum was different from the water soluble factor(s) in Solanum malacoxylon. The time course of effect of C. diurnum extract in rachitic chicks was similar to that of 1,25-dihydroxycholecalciferol but the former had a longer lag time. The strontium fed chick, in which the kidney 25-hydroxycholecaliciferol-1..cap alpha..-hydroxylase is inhibited, responded to C. diurnum extract, confirming the 1..cap alpha..,25-dihydroxycholecalciferol-like character of the Cestrum factor. The extract also appeared to interact with the intestinal 1..cap alpha..,25-dihydroxycholecalciferol cytosol receptor although this observation is preliminary. These findings indicate that the 1..cap alpha..,25-dihydroxycholecalciferol-like principle in C. diurnum may cause excessive calcium and phosphate absorption leading to calcinosis.

  11. Studies on the 1alpha, 25-dihydroxycholecalciferol-like activity in a calcinogenic plant. Cestrum diurnum, in the chick.

    Science.gov (United States)

    Wasserman, R H; Corradino, R A; Krook, L; Hughes, M R; Haussler, M R

    1976-04-01

    Cestrum diurnum (day-blooming jessamine) has been proposed to cause calcinosis in horses and cattle in Florida. The present studies investigated some physiological properties of the plant, using the chick as the experimental animal. The inclusion of dried leaf powder in a rachitogenic diet restored intestinal calcium-binding protein synthesis (CaBP) and increased calcium absorption in the cholecalciferol-deficient chick. The estimated level of cholecalciferol-equivalents in the dried leaf was about 30,000 to 35,000 IU/kg. Most of the activity was extractable with methanol:chloroform (2:1), indicating that the major cholecalciferol-like component in C. diurnum was different from the water soluble factor(s) in Solanum malacoxylon. The time course of effect of C. diurnum extract in rachitic chicks was similar to that ot 1,25-dihydroxycholecalciferol but the former had a longer lag time. The strontium fed chick, in which the kidney 25-hydroxycholecalciferol-1alpha-hydroxylase is inhibited, responded to C. diurnum extract, confirming the 1alpha,25-dihydroxycholecalciferol-like character of the Cestrum factor. The extract also appeared to interact with the intestinal 1 alpha,25-dihydroxycholecalciferol cytosol receptor although this observation is preliminary. These findings indicate that the l alpha,25-dihydroxycholecalciferol-like principle in C. diurnum many cause excessive calcium and phosphate absorption leading to calcinosis.

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

    Science.gov (United States)

    Abdel Razek, Ahmed Abdel Khalek

    2016-06-01

    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.

  13. 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

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    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

  14. Advances in pathogenesis and treatment of systemic sclerosis.

    Science.gov (United States)

    Denton, Christopher P

    2015-12-01

    Systemic sclerosis is the most severe disease within the scleroderma spectrum and is a major medical challenge with high mortality and morbidity. There have been advances in understanding of pathogenesis that reflect the interplay between immune-inflammatory processes and vasculopathy and fibrosis. It can be regarded as a disease of connective tissue repair and this leads to organ-based complications. However the aetiology and triggering events remain to be elucidated. Treatment is available for many aspects of the disease although the available therapies are not curative and some complications remain very challenging, especially non-lethal manifestations such as fatigue, calcinosis and anorectal dysfunction. Immunosuppression is now established as a beneficial approach but balancing risk and benefit is vital, especially for powerful approaches such as autologous stem cell transplantation.

  15. 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.

  16. Cestrum diurnum poisoning in Florida cattle.

    Science.gov (United States)

    Krook, L; Wasserman, R H; McEntee, K; Brokken, T D; Teigland, M B

    1975-10-01

    Cestrum diurnum poisoning was described in a Florida bull. Clinical signs included chronic wasting and progressive lameness. Plasma calcium was elevated for long periods of time but decreased toward low normal values. There was pronounced C-cell hyperplasia. Osteopetrosis was very severe and reflected retarded osteocytic osteolysis and chondrolysis. Further negative effects on the osteocytes eventually lead to osteonecrosis. Soft tissue calcinosis involved tendons and ligaments, major arteries and veins but kidneys and lungs were spared. Whereas the osteopetrosis could be explained by hypercalcitoninism, the osteonecrosis was believed to result from direct action by the Cestrum diurnum factor, previously shown to have an action similar to that of 1,25-dihydroxy-cholecalciferol, which is the biologically active metabolite of vitamin D3.

  17. Immune-Mediated Muscle Diseases of the Horse.

    Science.gov (United States)

    Durward-Akhurst, S A; Valberg, S J

    2017-01-01

    In horses, immune-mediated muscle disorders can arise from an overzealous immune response to concurrent infections or potentially from an inherent immune response to host muscle antigens. Streptococcus equi ss. equi infection or vaccination can result in infarctive purpura hemorrhagica (IPH) in which vascular deposition of IgA-streptococcal M protein complexes produces ischemia and complete focal infarction of skeletal muscle and internal organs. In Quarter Horse-related breeds with immune-mediated myositis, an apparent abnormal immune response to muscle antigens results in upregulation of major histocompatibility complex class (MHC) I and II on muscle cell membranes, lymphocytic infiltration of lumbar and gluteal myofibers, and subsequent gross muscle atrophy. Rarely, an inflammatory event results in myositis with subsequent systemic calcinosis characterized by a pathognomonic hyperphosphatemia and high fatality rate. This review presents an overview of these immune-mediated myopathies and highlights clinical and pathological features as well as the suspected pathophysiology.

  18. 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.)

  19. 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.

  20. Subepidermal calcified nodule in a 7-month-old boy.

    Science.gov (United States)

    Xu, Yaohui; Petronic-Rosic, Vesna; Stein, Sarah L

    2007-01-01

    A 7-month-old healthy white boy presented for evaluation of a papule on his right ear. His mother reported a small cut-like lesion at this site shortly after birth that had gradually grown over time. The patient was born full term via repeat cesarean section. On physical examination, located on the right superior helix, there was a 5-6 mm, pink, firm papule with a rough scaly surface and peripheral erythema (Figure 1). The lesion was shave excised and sent for histologic analysis. Microscopic examination revealed a defect of the epidermis with underlying fibrin deposits (Figure 2). Subjacent to the ulcer, there was chondroid tissue, granulation tissue with prominent vascularity, and an extensive amount of amorphous calcified material throughout the dermis extending to the base of the specimen (Figure 3). The clinical and pathologic findings were consistent with a subepidermal calcified nodule (SCN), an uncommon idiopathic calcinosis. The lesion was surgically removed with good results.

  1. 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.

  2. FIELD STUDY OF THE PREVALENCE OF LAMENESS IN HORSES IN THREE PROVINCES OF IRAN

    Directory of Open Access Journals (Sweden)

    A.T. Naeini and B. T. Niak

    2005-07-01

    Full Text Available A population of 364 show jumper horses was examined for signs of lameness in three province of Iran, i.e., Tehran, Isfahan and Fars. The basis of the survey was the inability of the horse to take part in jumping exercise. The diagnosis of lameness was performed using appropriate methods of visual and physical examination, aided by nerve blocking and radiographic examination. In 364 horses, included cases of hygroma, very short heel, tendonitis, fissure in the hoof, navicular syndrome, laminitis, white line disease, splints, sore shine, side bone, ring bone, tumoral calcinosis, sheard heel, incorrect shoeing and wind puff. This suggests that the diagnosis, therapy and prophylaxis of lameness merit a high priority in research efforts to reduce wastage among valubale show jumper horses.

  3. 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.

  4. Cestrum diurnum intoxication in normal and hyperparathyroid pigs.

    Science.gov (United States)

    Kasali, O B; Krook, L; Pond, W G; Wasserman, R H

    1977-04-01

    The effect of ingestion of dried leaves of Cestrum diurnum, a plant shown to contain a 1,25-dihydroxycholecalciferol-like principle, was tested in normal pigs fed 1.2% calcium and 1.0% phosphorus for 10 weeks from weaning and in hyperparathyroid pigs fed 0.8% calcium and 1.6% phosphorus for the same periods of time. Addition of 3% Cestrum diurnum leaf meal rapidly resulted in decreased feed consumption and weight gain, hypercalcemia and hypophosphatasemia. In normal pigs, plasma calcium rose to 16 mg/100 ml within one week and remained high for the 4 week experimental period. In hyperparathyroid pigs with hypocalcemia, plasma calcium rose to 12.75 mg/100 ml within one week and later approached 15 mg/100 ml. Ingestion of Cestrum diurnum retarded cell differentiation of growth cartilages. Arrested osteocytic osteolysis was observed within one week with osteopetrosis of epiphyses and metaphyses. The negative effect on the resorbing osteocytes then caused osteonecrosis which, in combination with lack of bone formation because of atrophy of osteoblasts, resulted in osteopenia within 4 weeks. Dystrophic calcinosis occurred within 2 weeks and was widespread after 4 weeks in lungs, kidneys, heart and vessels. Atrophy of parathyroid cells was severe after one week. Hyperparathyroid pigs responded with skeletal lesions, dystrophic calcinosis and parathyroid atrophy more rapidly and severely than normal pigs. The biochemical and anatomical changes in Cestrum diurnum ingestion are closely similar to those in vitamin D3 intoxication in pigs. Whereas pigs can tolerate large amounts of vitamin D3 because of feed-back control of 1 alpha-hydroxylation in the kidney, this control point is by-passed in Cestrum diurnum ingestion and intoxication occurs promptly.

  5. Juvenile dermatomyositis.

    Science.gov (United States)

    Quartier, Pierre; Gherardi, Romain K

    2013-01-01

    Juvenile dermatomyositis (JDM) is a systemic, inflammatory, idiopathic disease, mainly affecting the skin and the muscles, starting before the age of 16, with an incidence around one case per 1 million children. Some patients display typical features of JDM without skin involvement, or even without muscle involvement; however, both tissues are affected over time in most cases. Diagnosis criteria were established by Bohan and Peter 35 years ago, based on the presence of typical skin rash and proximal muscle involvement. Other conditions have to be ruled out before making a diagnosis of JDM, such as other connective tissue diseases, polymyositis, infectious/postinfectious myositis, genetic diseases, or metabolic or drug-induced myopathies. Unlike adult-onset dermatomyositis, JDM is exceptionally associated with a malignant disease. JDM may also affect several organs, including the lungs and the digestive tract. In a subset of patients, glucose intolerance, lipodystrophia and/or calcinosis develop. Delay in treatment initiation or inadequate treatment may favor diffuse, debilitating calcinosis. JDM patients have to be referred to reference pediatric centers to properly assess disease activity and disease-related damage (including low bone density in most cases), and to define the best treatment. Long-lasting corticosteroid therapy remains the gold standard, together with physiotherapy. Ongoing clinical trials are assessing the effect of several immunosuppressive and immunomodulatory drugs, which may help to control the disease and possibly demonstrate a corticosteroid-sparing effect. Most patients respond to treatment; relapses are frequent but a complete disease remission is achieved in most cases before adulthood.

  6. Serum 25-OH vitamin D levels in systemic sclerosis: analysis of 140 patients and review of the literature.

    Science.gov (United States)

    Giuggioli, Dilia; Colaci, M; Cassone, G; Fallahi, P; Lumetti, F; Spinella, A; Campomori, F; Manfredi, A; Manzini, C U; Antonelli, A; Ferri, C

    2017-03-01

    Hypovitaminosis D is increasingly reported in autoimmune diseases. We investigated the 25-OH-vitamin D (25-OH-vitD) levels in systemic sclerosis (SSc) patients, in correlation with disease's features. We measured the 25-OH-vitD serum levels in 140 consecutive patients (F/M 126/15; mean age 61 ± 15.1 years), 91 without (group A) and 49 with (group B) 25-OH-cholecalciferol supplementation. Patients of group A invariably showed low 25-OH-vitD levels (9.8 ± 4.1 ng/ml vs. 26 ± 8.1 ng/ml of group B); in particular, 88/91 (97%) patients showed vitamin D deficiency (D levels (D deficiency persisted in 12/49 (24.5%) individuals. Parathormone levels inversely correlated with 25-OH-vitD (r = -0.3, p D was statistically associated with autoimmune thyroiditis (p = 0.008), while calcinosis was more frequently observed in patients of group A (p = 0.057). Moreover, we found significantly higher percentage of serum anticentromere antibodies in group B patients with 25-OH-vitD level ≥30 ng/ml (8/15 vs. 6/34; p = 0.017). In literature, hypovitaminosis D is very frequent in SSc patients. An association with disease duration, calcinosis, or severity of pulmonary involvement was occasionally recognized. Hypovitaminosis D is very frequent in SSc and severe in a relevant percentage of patients; furthermore, less than one third of supplemented subjects reached normal levels of 25-OH-vitD. The evaluation of 25-OH-vitD levels should be included in the routine clinical work-up of SSc. The above findings expand previous observations and may stimulate further investigations.

  7. A stable acentric marker chromosome: Possible existence of an intercalary ancient centromere at distal 8p

    Energy Technology Data Exchange (ETDEWEB)

    Ohashi, Hirofumi; Fukushima, Yoshimitsu; Wakui, Keiko; Ogawa, Kioyshi [Saitama Children`s Medical Center, Iwatsuki (Japan); Okano, Tetsuroh [Kitazato Univ., Tokyo (Japan); Niikawa, Norio [Nagasaki Univ. School of Medicine (Japan)

    1994-12-01

    A centromere is considered to be an essential chromosomal component where microtubule-kinetochore interaction occurs to segregate sister chromatids faithfully and acentric chromosomes are unstable and lost through cell divisions. We report a novel marker chromosome that was acentric but stable through cell divisions. The patient was a 2-year-old girl with mental retardation, patent ductus arteriosus, and mild dysmorphic features. G-banded chromosome analysis revealed that an additional small marker chromosome was observed in all 100 cells examined. By the reverse-chromosome-painting method, the marker was found to originate from the distal region of 8p, and a subsequent two-color FISH analysis with cosmid probes around the region revealed that the marker was an inverted duplication interpreted as 8pter {yields} p23.1::p23.1 {yields} 8pter. No centromeric region was involved in the marker. By FISH, no {alpha}-satellite sequence was detected on the marker, while a telomere sequence was detected at each end. Anti-kinetochore immunostaining, using a serum from a patient with CREST (calcinosis, Raynaud syndrome, esophageal dismotility, sclerodactyly, and telangiectasia) syndrome, showed a pair of signals on the marker, which indicated that a functional kinetochore was present on the marker. The analysis of this patient might suggest the possibility that an ancient centromere sequence exists at distal 8p (8p23.1-pter) and was activated through the chromosome rearrangement in the patient.

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

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    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.

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

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    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.

  10. 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.

  11. MIXED CONNECTIVE TISSUE DISORDER WITH PREGNANCY

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    Narmadha

    2015-12-01

    Full Text Available Mixed connective tissue disease (MCTD is a term involving the features of lupus systemic sclerosis, polymyositis, rheumatoid arthritis and high titre of anti ribonucleoprotein (RNP antibodies, exact etiology is not known. It is characterized by microvascular damage, immune system activation leading to inflammation and excessive deposition of collagen in the skin, lungs, heart, gastrointestinal tract and kidneys. The females are being more affected especially after childbirth attributed to the hypothesis of microchimerism, the pathogenesis being a two way migration of fetal cells through the placenta. It cannot be cured completely but treatment with corticosteroids is helpful. ACE inhibitors are useful in renal involvement and hypertension. We had a case of mixed connective tissue disorder in a patient aged 28 years with 12 weeks of gestation for medical termination of pregnancy (MTP and permanent sterilization. The complications are preeclampsia, preterm labor, fetal growth restriction, eclampsia, thrombocytopenia and infections like pneumonia, sepsis like syndrome and the maternal mortality rate is 325/100000. This is a unique case of MCTD wherein we had limited cutaneous disease like CREST-calcinosis, Raynaud’s phenomenon, esophageal involvement, sclerodactyly and telangiectasia of a lesser degree. So early diagnosis and timely intervention is advocated to prevent complications

  12. 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).

  13. Primary multiple miliary osteoma cutis: a case report%原发性多发性粟粒样皮肤骨瘤

    Institute of Scientific and Technical Information of China (English)

    胡蓉; 宋联进; 杨扬; 李廷慧; 马慧军

    2013-01-01

    A case of primary multiple miliary osteoma cutis is reported. A 25-year-old female presented with a 5 year history of light-yellow papules in zonal distribution on her parietal scalp. The lesions gradually increased in number and spread to the forehead and lower eyelids. Histopathological study of biopsy showed multiple ossification and calcification foci as well as osteocytes in the dermis. The diagnosis of primary multiple military, osteoma cutis was made. The differential diagnosis includes comedones, sebaceous nevus, plaque-like osteomas cutis and cutaneous calcinosis.%报告1例头部原发性多发性粟粒样皮肤骨瘤.患者女,25岁.因发现右头顶出现呈带状分布的淡黄色丘疹,进行性增多并延及额部和下眼睑 5年来诊.皮损组织病理检查可见真皮内多个骨化伴钙化灶,可见骨细胞.结合皮疹特点诊断为原发性多发性粟粒样皮肤骨瘤.该病临床需要与粉刺、皮脂腺痣、斑块状皮肤骨瘤、皮肤钙质沉着症相鉴别.

  14. 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.

  15. A systematic study of site-specific GalNAc-type O-glycosylation modulating proprotein convertase processing.

    Science.gov (United States)

    Schjoldager, Katrine Ter-Borch Gram; Vester-Christensen, Malene B; Goth, Christoffer K; Petersen, Thomas Nordahl; Brunak, Søren; Bennett, Eric P; Levery, Steven B; Clausen, Henrik

    2011-11-18

    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 for O-glycosylation especially of isolated sites, but serine and to a lesser extent threonine residues are frequently found adjacent to PC processing sites. In the present study we used in vitro enzyme assays and ex vivo cell models to systematically address the boundaries of the region within site-specific O-glycosylation affect PC processing. The results demonstrate that O-glycans within at least ±3 residues of the RXXR furin cleavage site may affect PC processing suggesting that site-specific O-glycosylation is a major co-regulator of PC processing.

  16. Historical perspectives on the discovery and elucidation of autoantibodies to centromere proteins (CENP) and the emerging importance of antibodies to CENP-F.

    Science.gov (United States)

    Fritzler, Marvin J; Rattner, Jerome B; Luft, LeeAnne M; Edworthy, Steven M; Casiano, Carlos A; Peebles, Carol; Mahler, Michael

    2011-02-01

    Autoantibodies to the centromere proteins (CENP), which are major constituents of the primary constriction of metaphase chromosomes, were first described in 1980. In those seminal publications and 30 years of research that have followed, a number of CENP have been identified as autoantibody targets in human diseases. Historically, autoantibodies directed to CENP-A, -B and -C have been considered relatively specific biomarkers for limited cutaneous systemic sclerosis (lcSSc) or the calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia (CREST) syndrome. These autoantibodies, found in up to 40% of SSc sera, can be identified by indirect immunofluorescence (IIF) on a variety of tissue culture cell lines as a discrete speckled staining pattern of both interphase nuclei and metaphase chromatin. Early in the investigation of anti-CENP, it became apparent that some autoantibodies had a similar IIF pattern wherein as cells entered into the cell cycle, speckled staining of the metaphase chromatin could be observed but, unlike conventional CENP staining, interphase nuclei were not stained. Subsequent studies identified one of the targets of these autoantibodies to be CENP-F, a kinesin binding protein essential for completion of the cell cycle. Early clinical studies found that, unlike antibodies to the earlier described CENP, lcSSc rarely expressed anti-CENP-F and approximately 50% of these patients had a malignancy. This review provides a historical perspective of CENP autoantibodies and focuses on an update of the information on CENP-F and their clinical associations.

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

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    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.

  18. High Levels of Copper, Zinc, Iron and Magnesium, but not Calcium, in the Cerebrospinal Fluid of Patients with Fahr’s Disease

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    Isao Hozumi

    2010-05-01

    Full Text Available Patients with marked calcification of the basal ganglia and cerebellum have traditionally been referred to as having Fahr’s disease, but the nomenclature has been criticized for including heterogeneous etiology. We describe 3 patients with idiopathic bilateral striatopallidodentate calcinosis (IBSPDC. The patients were a 24-year-old man with mental deterioration, a 57-year-old man with parkinsonism and dementia, and a 76-year-old woman with dementia and mild parkinsonism. The former 2 patients showed severe calcification of the basal ganglia and cerebellum, and the latter patient showed severe calcification of the cerebellum. We found significantly increased levels of copper (Cu, zinc (Zn, iron (Fe and magnesium (Mg, using inductively coupled plasma mass spectrometry in the CSF of all these 3 patients. The increased levels of Cu, Zn, Fe and Mg reflect the involvement of metabolism of several metals and/or metal-binding proteins during the progression of IBSPDC. More numerous patients with IBSPDC should be examined in other races to clarify the common mechanism of the disease and to investigate the specific treatment.

  19. 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.

  20. The Association of Pseudohypoparathyroidism Type Ia with Chiari Malformation Type I: A Coincidence or a Common Link?

    Science.gov (United States)

    2016-01-01

    A 19-month-old boy was referred for progressive weight gain. His past medical history included congenital hypothyroidism and developmental delay. Physical examination revealed characteristics of Albright Hereditary Osteodystrophy, macrocephaly, and calcinosis cutis. He had hypocalcemia, hyperphosphatemia, and elevated Parathyroid Hormone levels. Genetic testing revealed a known mutation of GNAS gene, confirming the diagnosis of Pseudohypoparathyroidism Type Ia (PHP-Ia) (c.34C>T (p.G1n12X)). He had a normal brain MRI at three months, but developmental delay prompted a repeat MRI that revealed Chiari Malformation Type I (CM-I) with hydrocephalus requiring neurosurgical intervention. This was followed by improvement in attaining developmental milestones. Recently, he was diagnosed with growth hormone deficiency. This case suggests the potential association of CM-I with PHP-Ia. Larger studies are needed to assess whether CM-I with hydrocephalus are common associations with PHP-Ia and to define potential genetic links between these conditions. We propose a low threshold in performing brain MRI on PHP-1a patients, especially those with persistent developmental delay to rule out CM-I. Early intervention may improve neurodevelopmental outcomes and prevent neurosurgical emergencies. PMID:27703483

  1. Role of radionuclide scintigraphy in the detection of parathyroid adenoma

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    Singh N

    2007-01-01

    Full Text Available Background: Preoperative detection of parathyroid adenoma is a diagnostic challenge. The sonography and computerized tomography (CT scan demonstrate high sensitivity but low specificity. The advent of radionuclide scanning technique has enhanced the specificity in this context. Aim: We undertook a study to assess the role of radionuclide scanning in suspected cases of parathyroid adenomas. Materials And Methods: Totally 28 cases were incorporated in the study. The suspicion was raised either due to raised PTH levels or recurrent calcinosis. Most of these patients had estimation of calcium done as a routine or specific investigation. The parathyroid scan was performed using either of the two techniques - Dual isotope subtraction or Sestamibi washout technique. We also used the recent approach of fusion imaging (CT + tomographic nuclear images in selected cases. Results: There were 16 true positive, 10 true negative, 1 false negative and 1 equivocal scan findings. The findings were compared with sonography, CT Scan and PTH values. The true positive yield in our study was 57%, true negative 35% and the overall sensitivity and specificity was found to be 94% and 100% respectively. Conclusion: We conclude that parathyroid scintigraphy is a reliable and sensitive technique in the preoperative detection of parathyroid adenomas and should be the first choice of imaging modality in suspicion of parathyroid adenoma.

  2. Skin Findings in Renal Transplantation Patients

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    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.

  3. 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.

  4. [Application of atomic force microscopy (AFM) in ophthalmology].

    Science.gov (United States)

    Milka, Michał; Mróz, Iwona; Jastrzebska, Maria; Wrzalik, Roman; Dobrowolski, Dariusz; Roszkowska, Anna M; Moćko, Lucyna; Wylegała, Edward

    2012-01-01

    Atomic force microscopy (AFM) allows to examine surface of different biological objects in the nearly physiological conditions at the nanoscale. The purpose of this work is to present the history of introduction and the potential applications of the AFM in ophthalmology research and clinical practice. In 1986 Binnig built the AFM as a next generation of the scanning tunnelling microscope (STM). The functional principle of AFM is based on the measurement of the forces between atoms on the sample surface and the probe. As a result, the three-dimensional image of the surface with the resolution on the order of nanometres can be obtained. Yamamoto used as the first the AFM on a wide scale in ophthalmology. The first investigations used the AFM method to study structure of collagen fibres of the cornea and of the sclera. Our research involves the analysis of artificial intraocular lenses (IOLs). According to earlier investigations, e.g. Lombardo et al., the AFM was used to study only native IOLs. Contrary to the earlier investigations, we focused our measurements on lenses explanted from human eyes. The surface of such lenses is exposed to the influence of the intraocular aqueous environment, and to the related impacts of biochemical processes. We hereby present the preliminary results of our work in the form of AFM images depicting IOL surface at the nanoscale. The images allowed us to observe early stages of the dye deposit formation as well as local calcinosis. We believe that AFM is a very promising tool for studying the structure of IOL surface and that further observations will make it possible to explain the pathomechanism of artificial intraocular lens opacity formation.

  5. 系统性硬化病诊断及治疗指南

    Institute of Scientific and Technical Information of China (English)

    中华医学会风湿病学分会

    2011-01-01

    @@ 1概述 系统性硬化病(systemic sclerosis,SSc)是一种以皮肤变硬和增厚为主要特征的结缔组织病,女性多见,多数发病年龄在30~50岁.根据患者皮肤受累的情况将SSc分为5种亚型:①局限性皮肤型SSc(limited cutaneous SSc):皮肤增厚限于肘(膝)的远端,但可累及面部、颈部.②CREST综合征(CREST syndrome):局限性皮肤型SSc的一个亚型,表现为钙质沉着(calcinosis,C),雷诺现象(Raynaud's phenomenon,R),食管功能障碍(esophageal dysmotility,E),指端硬化(sclerodactylv,S)和毛细血管扩张(telangiectasia,T).③弥漫性皮肤型SSc (diffuse cutaneous SSc):除面部、肢体远端外,皮肤增厚还累及肢体近端和躯干.④无皮肤硬化的SSc(SSc sine scleroderma):无皮肤增厚的表现,但有雷诺现象、SSc特征性的内脏表现和血清学异常.⑤重叠综合征(overlap syndrome):弥漫或局限性皮肤型SSc与其他诊断明确的结缔组织病同时出现,包括系统性红斑狼疮、多发性肌炎/皮肌炎或类风湿关节炎.

  6. Clinical presentation and evaluation of dermatomyositis

    Directory of Open Access Journals (Sweden)

    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.

  7. Human sterile alpha motif domain 9, a novel gene identified as down-regulated in aggressive fibromatosis, is absent in the mouse

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    Bell Sherilyn

    2007-04-01

    Full Text Available Abstract Background Neoplasia can be driven by mutations resulting in dysregulation of transcription. In the mesenchymal neoplasm, aggressive fibromatosis, subtractive hybridization identified sterile alpha motif domain 9 (SAMD9 as a substantially down regulated gene in neoplasia. SAMD9 was recently found to be mutated in normophosphatemic familial tumoral calcinosis. In this study, we studied the gene structure and function of SAMD9, and its paralogous gene, SAMD9L, and examined these in a variety of species. Results SAMD9 is located on human chromosome 7q21.2 with a paralogous gene sterile alpha motif domain 9 like (SAMD9L in the head-to-tail orientation. Although both genes are present in a variety of species, the orthologue for SAMD9 is lost in the mouse lineage due to a unique genomic rearrangement. Both SAMD9 and SAMD9L are ubiquitously expressed in human tissues. SAMD9 is expressed at a lower level in a variety of neoplasms associated with β-catenin stabilization, such as aggressive fibromatosis, breast, and colon cancers. SAMD9 and SAMD9L contain an amino-terminal SAM domain, but the remainder of the predicted protein structure does not exhibit substantial homology to other known protein motifs. The putative protein product of SAMD9 localizes to the cytoplasm. In vitro data shows that SAMD9 negatively regulates cell proliferation. Over expression of SAMD9 in the colon cancer cell line, SW480, reduces the volume of tumors formed when transplanted into immune-deficient mice. Conclusion SAMD9 and SAMD9L are a novel family of genes, which play a role regulating cell proliferation and suppressing the neoplastic phenotype. This is the first report as far as we know about a human gene that exists in rat, but is lost in mouse, due to a mouse specific rearrangement, resulting in the loss of the SAMD9 gene.

  8. 儿童皮肌炎35例临床分析%Clinical analysis of 35 patients with juvenile dermatomyositis

    Institute of Scientific and Technical Information of China (English)

    丁艳; 张燕; 蒙秉新

    2012-01-01

    目的 研究儿童皮肌炎(Juvenile dermatomyositis,JDM)的临床特点.方法 采用回顾性分析方法对1990年4月-2010年3月在本院住院的35例JDM患者进行临床资料分析. 结果 35例JDM患者有较多并且较严重的并发症如化脓性感染、肺结核、钙质沉着、肌肉挛缩、心脏受累等,激素等治疗后完全缓解31例,部分缓解2例,未愈1例,死亡2例.结论 JDM是慢性活跃性疾病,结局好坏与治疗是否合适有关,严重的并发症仍然普遍存在.%Objective To analyze the clinical characteristics of juvenile dermatomyositis. Methods Thirty-five patients with juvenile dermatomyositis in Hainan Provincial Hospital were analyzed retrospectively. Results Most of Juvinilee dermatomyositis patients with severe complications, such as pyogenic infections, pulmonary tuberculosis, calcinosis, muscle contractures and heart involvement, et al. Thirty-one of the 35 patients with juvenile dermatomyositis were totlly relieved,2 partial relieved,one failed and 2 died after treated with coorticosteroids. Conclusion Juvenile dermatomyositis is a chronic inflammatory illness. Functional outcomes are associated with therpied chosen and serious complications are still common.

  9. [Ultrasound-assisted puncture method of treatment of hepatic hydatid cysts].

    Science.gov (United States)

    Gavrilin, A V; Kuntsevich, G I; Vishnevskiĭ, V A; Ikramov, R Z; Zhurenkova, T V; Burtseva, E A; Savvina, T B; Agafonov, V A

    2002-01-01

    Results of treatment of 31 hepatic hydatid cysts in 28 patients were analyzed. The size of the s ranged from 3 to 25 cm. In 26 cases the cysts contained flive es, in 2 cases they were suppurated after US-assisted intraoperative puncture. Simple hydatid cysts (type I by M. Milcevic) were diagnosed in 24 patients (solitary--in 22, multiple--in 2), solitary cysts of type II--in 2 patients. In 23 cases aspiration-catheter treatment with complete removal of chitin membrane by one-stage (4) or two-stage (19) methods was performed. After removal of chitin membrane in 3 patients lateral fistula between spurious cysts cavities and peripheral branches of intrahepatic bile ducts were revealed which spontaneously. Glue composition "Rabrom" was used in 2 cases for closure of the residual cavity. In 4 patients who had cysts less 6 cm in size puncture irrigation of chitin cavity with 30% NaCl (PAIR technique) without it removal was performed. In one patient transcutaneous catheter (PAIR-PD technique) was used for irrigation of the cyst larger than 6 cm. The duration of two-stage aspiration-catheter treatment with removal of chitin membrane was 25.6 +/- 9.6 days. In moderate calcinosis of the fibrous membrane and bile fistulas period of hospitalization was 34 +/- 8.1 days. Treatment with PAIR and PAIR-PD took 1 and 3 days respectively. Complications of percutaneous methods were regarded as mild: hyperthermia (12), right-sided hydrothorax (6), subcapsular hematoma (1), urticaria (1). All the complications were treated conservatively and with US-assisted punctures. Long-term (from 6 months to 9 years) results of treatment were followed up in 26 patients: there were no recurrences. Suppuration of the residual cavity 6 months after the glue occlusion was eradicated by transcutaneous catheter drainage. One lethal outcome was not associated with complications of aspiration-catheter treatment. Both methods of transcutaneous treatment of hepatic hydatid cysts are effective and safe. A

  10. 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

  11. Estudo da densidade óssea na esclerodermia sistêmica Bone density in systemic sclerosis (scleroderma patients

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    H.C. da Silva

    1997-03-01

    mineral density in the spine, proximal femur and total body in patients with systemic sclerosis. PATIENTS AND METHOD - Twenty-five Caucasian women were evaluated. Mean age of patients was 48 ± 12 years and mean time of disease was 7 ± 7 years; 13 were postmenopausal (8 ± 8 years. Bone mass was measured in the spine, proximal femur and total body by using a dual-photon absorptiometry with X rays source (Lunar - Model DPX. RESULTS - Bone mass in different sites was not statistically different from the age-matched control healthy women. Mean bone mass of patients with limited form was not different from patients with diffuse form of systemic sclerosis. Patients with calcinosis had lower bone mass at proximal femur than those without this alteration. CONCLUSIONS - Patients with systemic sclerosis do not present bone loss and this disease is not a risk factor for generalized osteoporosis.

  12. Clinical and neuroimagings analysis in 10 patients with lupus encephalopathy%狼疮脑病10例临床神经影像特征分析

    Institute of Scientific and Technical Information of China (English)

    刘智; 陈琳; 崔丽英; 钱敏; 李晓光

    2012-01-01

    Objective To report specific clinico-radiological syndromes in neuropsychiatric systemic lupus erythematosus (NPSLE).Methods Ten patients with NPSLE in Peking Union Medical College Hospital from 2005 to 2011 were studied retrospectively with magnetic resonance imaging, computer tomography or positron emission tomography. Results Posterior reversible encephalopathy syndrome was diagnosed in 2 patients with radiological features,headache and tonic-clonic seizure;3 patients with bilateral diffuse leukoencephalopathy,cognitive disorder and acute confusional state; 1 Fahr' s disease patient,with cognitive disorder and psychiatric symptom,movement disorder; 2 Parkinsonism patients with tremor and cogwheel rigidity,and 2 chorea patients. Conclusions The emergence of diffuse brain calcinosis,leukoencephalopathy and edema may happen in lupus encephalopathy particularly.Autoantibody reaction and vascular disease may play an important role in movement disorder including Parkinsonism and chorea.%目的 研究系统性红斑狼疮累及中枢神经系统中具有特征性临床-神经影像综合征患者的临床及神经影像特点,并探讨其可能的发生机制.方法 通过回顾性分析北京协和医院2005-2011年收治的10例系统性红斑狼疮患者的临床及神经影像学资料,复习文献,总结分析临床及神经影像特点.结果 10例患者根据临床神经影像特点分类:2例后循环可逆性脑病,临床表现为头痛、癫痫大发作;2例帕金森综合征患者,临床表现为震颤、肌张力齿轮样增高;2例舞蹈病患者,3例弥漫性白质脑病患者,临床表现为精神症状、认知功能障碍及急性意识模糊状态;1例Fahr综合征,临床表现为精神症状及认知功能障碍.结论 临床表现为运动障碍的狼疮脑病可能与局部基底节区的免疫反应或血管病变相关,而基于神经影像学发现,狼疮脑病也可引起广泛钙化、水肿及脑白质病变.

  13. Linhas escleróticas metafisárias em crianças e adolescentes em uso de alendronato Sclerotic metaphyseal lines in children and adolescents treated with alendronate

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    Érika C.C. Silva

    2010-06-01

    Full Text Available INTRODUÇÃO: Os bisfosfonatos inibem a reabsorção óssea pela interferência na ação dos osteoclastos. Dentre os efeitos adversos, as linhas escleróticas em metáfise de ossos longos são descritas como principal alteração radiográfica na faixa etária pediátrica. OBJETIVO: Avaliar a frequência de alterações radiográficas causadas pelo alendronato utilizado em crianças e adolescentes com baixa densidade óssea ou calcinose. PACIENTES E MÉTODOS: Foi realizado um estudo do tipo coorte retrospectiva analisando-se prontuários de 21 pacientes que fizeram uso de alendronato semanal por no mínimo 10 meses. Os pacientes realizaram radiografias de ossos longos antes do início do alendronato e aproximadamente um ano após o seu uso. RESULTADOS: Onze pacientes (52,3% apresentaram linhas escleróticas em metáfise dos ossos longos. A localização mais frequente foi em tíbia (8/11 pacientes, seguida de fêmur (7/11, úmero (6/11, rádio (4/11, ulna (3/11 e fíbula (2/11. Nenhum paciente apresentou regress��o das alterações radiográficas durante o tempo de evolução (até 1,1 ano após a suspensão do alendronato. CONCLUSÃO: Se usado com critério, o alendronato é seguro e as alterações radiográficas não mostraram ter um significado mais importante.INTRODUCTION: Bisphosphonates inhibit bone resorption by interfering with the action of osteoclasts. Among the adverse effects, sclerotic lines observed in the metaphysis of long bones have been described as the main imaging finding in pediatric patients. OBJECTIVE: To evaluate the frequency of radiographic changes caused by alendronate in children and adolescents with low bone density or calcinosis. PATIENTS AND METHODS: We conducted a cross-sectional study with 21 patients who were treated with once-weekly alendronate for at least 10 months. Patients underwent x-rays of long bones before the start of alendronate and approximately one year after its use. RESULTS: Eleven patients

  14. 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

    Directory of Open Access Journals (Sweden)

    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.

  15. CT in the study of thoracic-pulmonary complications after liver transplantation; La Tomografia Computerizzata nello studio delle complicanze toraco-polmonari dopo trapianto del fegato

    Energy Technology Data Exchange (ETDEWEB)

    Robiati, S.; Veltri, A.; Martina, M. C.; Gariazzo, G.; Gandini, G. [Azienda Ospedaliera Sanitaria Giovanni Battista, Ist. di Radiologia dell' Universita' , Turin (Italy); Cerutti, E. [Turin Univ., Turin (Italy). Centro Trapianti Epatici; Ottobrelli, A. [Turin Univ., Turin (Italy). Dipt. di Gastroenterologia

    2000-12-01

    neoplastic infiltrates. Chest CT has relatively uncommon, and sometimes only clinical, indications in post-OLT patients. The technique is chosen based on clinical-radiographic findings. CT proved useful in showing negative cases and in detailing clinical and radiographic findings but must be integrated with clinical findings to define inflammatory and neoplastic conditions. [Italian] L'articolo si propone di valutare il ruolo della TC nelle complicanze toraciche del trapianto del fegato. In 100 dei 567 pazienti sottoposti a trapianto del fegato nel Centro Trapianti Epatici dell'Ospedale S. Giovanni Battista di Torino tra il 1990 e il 1999 (17,6%) sono stati eseguiti esami TC del torace. Di tali indagini sono stati valutati retrospettivamente il numero complessivo, le indicazioni (cliniche e/o poste dal radiogramma di screening), la modalita' di esecuzione, convenzionale (con o senza mdc ev) o con metodica con alta risoluzione (HRCT), i reperti radiologici e la correlazione tra questi ultimi e gli altri dati clinici, broncoscopici e/o laboratoristici. Su 152 studi TC, 45 (29,6%) sono stati effettuati a seguito di indicazioni cliniche, 31 (20,4%) radiografiche, 64 (42,1%) clinico-radiografiche e 12 (7,9%) non chiaramente documentabili; 133/152 (87,5%) esami sono stati eseguiti con metodica tradizionale (100 con mdc ev e 33 senza) e 19/152 (12,5%) con metodica HRCT. Venti/152 (13,2%) indagini in 16 pazienti sono risultate normali; negli altri 84 pazienti, 132/152 (86,8%) TC/HRCT hanno dimostrato complessivamente 247 reperti patologici (99 versamenti pleurici, 3 versamenti pericardici, 62 ipoventilazioni parenchimali marcate, 4 quadri di sovraccarico idrico, 70 addensamenti con aspetto flogistico, di cui 64 prevalentemente alveolari e 6 interstiziali, 8 lesioni di aspetto neoplastico ed una calcinosi polmonare). Correlata con i dati clinici, la TC e' risultata molto accurata nel chiarire i reperti delle indagini di massa clinico-radiografiche, pur presentando

  16. 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