Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0030193 (pain)
 261,466 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Juvenile dermatomyositis is a multisystem, inflammatory vasculopathy that primarily affects muscles and skin. Calcinosis is one of the most debilitating complications affecting patients with juvenile dermatomyositis. Calcifications resulting from calcinosis frequently are located on the elbows, knees, and other joints and can cause considerable disability with severe pain, joint contractures, skin ulcers, and muscle atrophy. Many therapies for calcinosis have been reported including diltiazem, probenecid, and alendronate. We report a patient surgically treated for bilateral knee flexion contractures with the Ilizarov technique. At 2.5 years' followup, the patient had full extension of both knees with 0 degree to 50 degrees flexion and was walking independently. The Ilizarov technique provides an important option for correcting knee flexion contractures secondary to calcinosis in juvenile dermatomyositis.
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PMID:Juvenile dermatomyositis with bilateral progressive knee flexion contracture. 1757 31

Tumoral calcinosis is a rare disorder that leads to diffuse calcium phosphate deposition into soft tissue and may be seen in the setting of uremia, hyperparathyroidism, or vitamin D intoxication. This lesion can produce significant local pain and can limit mobility in large joints where it tends to occur. Less commonly, it may produce neurological symptoms by compressing or encompassing adjacent neurovascular structures. Tumoral calcinosis involving nerve structures is challenging to treat, primarily because of its extensive size and propensity to infiltrate. Although surgical intervention can often provide symptomatic improvement, this lesion tends to recur in the presence of elevated calcium phosphate levels, and its management therefore requires a combined multidisciplinary surgical and medical approach. The authors describe two cases in which patients developed tumoral calcinosis producing peripheral nerve compression and discuss their respective surgical and medical management.
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PMID:Tumoral calcinosis producing peripheral nerve compression: a report of two cases. 1761 12

Normophosphatemic familial tumoral calcinosis (NFTC) is an autosomal recessive disorder characterized by calcium deposition in skin and mucosae and associated with unremitting pain and life-threatening skin infections. A homozygous missense mutation (p.K1495E), resulting in SAMD9 protein degradation, was recently shown to cause NFTC in five families of Jewish-Yemenite origin. In this study, we evaluated another Jewish-Yemenite NFTC kindred. All patients were compound heterozygous for two mutations in SAMD9: K1495E and a previously unreported nonsense mutation, R344X, predicted to result in a markedly truncated molecule. Screening of unaffected population-matched controls revealed heterozygosity for K1495E and R344X only in individuals of Jewish-Yemenite ancestry, but not in more than 700 control samples of other origins, including 93 non-Jewish Yemenite. These data may be suggestive of positive selection, considering the rarity of NFTC and the small size of the Jewish-Yemenite population; alternatively, they may reflect genetic drift or the effect of a population-specific modifier trait. Calcifications in NFTC generally develop over areas subjected to repeated trauma and are associated with marked inflammatory manifestations, indicating that SAMD9 may play a role in the inflammatory response to tissue injury. We therefore assessed the effect of cellular stress and tumor necrosis factor-alpha (TNF-alpha), a potent pro-inflammatory cytokine, on SAMD9 gene expression. Whereas exogenous hydrogen peroxide and heat shock did not affect SAMD9 transcription, osmotic shock was found to markedly upregulate SAMD9 expression. In addition, incubation of endothelial cells with TNF-alpha caused a dose-related, p38-dependant increase in SAMD9 expression. These data link NFTC and SAMD9 to the TNF-alpha signaling pathway, suggesting a role for this system in the regulation of extra-osseous calcification.
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PMID:Normophosphatemic familial tumoral calcinosis is caused by deleterious mutations in SAMD9, encoding a TNF-alpha responsive protein. 1809 30

Calcium deposition in the skin, known as calcinosis cutis, is an uncommon disorder caused by an abnormal deposit of calcium phosphate in the skin. We report a case of idiopathic calcinosis cutis in fingertip treated with surgical excision followed by the occlusive dressing using aluminum foil, and obtained significant pain relief and round-shaped fingertip which looked normal.
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PMID:Idiopathic calcinosis cutis in fingertip treated with occlusive dressing using aluminum foil: a case report. 1836 Sep 18

Tumoral calcinosis is a rare clinical and histopathologic syndrome that causes the formation of calcium salt crystal deposits in periarticular soft tissue. This soft tissue calcification typically behaves as a large-sized tumor. However, the mechanism is unknown for the massive periarticular calcification caused by tumoral calcinosis. In addition, tumor calcinosis occurs infrequently in patients who have been on long-term hemodialysis and have end-stage renal disease (ESRD). This report describes a 40-year-old male uremia patient on long-term hemodialysis. This patient developed a huge tumor mass and pain over the left shoulder and was diagnosed with tumoral calcinosis. Although common treatments include management of metabolic levels such as calcium and phosphate, in some cases, surgical intervention may be needed. In this patient case, complete surgical excision was done successfully with an excellent outcome at the 2-year follow-up.
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PMID:Tumoral calcinosis of the shoulder. 1839 3

Tumoral calcinosis is an uncommon lesion, composed of ectopic calcified tissue, most commonly seen in the large joints of the hips, shoulders, and elbows, but may involve the hand and wrist. Patients will often present with localized swelling and reduced mobility around the involved joints. Pain is inconsistent when presenting in the hands or wrists, but the lesions may interfere with daily activities. Multiple variations of the process have been described, ranging from those with no definable etiology (primary), to those associated with disorders (secondary) such as renal insufficiency, hyperparathyroidism, or hypervitaminosis D. The original description of tumoral calcinosis, however, is the familial or hereditary type. Treatment of this process involves optimizing the underlying physiology and complete surgical excision for symptomatic cases.
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PMID:Tumoral calcinosis--or is it? A case report and review. 1880 94

An elderly Japanese woman presented to our hospital with a 5-month history of a growing mass on her right cheek. She did not complain of local pain, headache, hearing difficulty, or tinnitus. CT and MRI showed a dense calcified mass and F-18 fluorodeoxyglucose (FDG) PET demonstrated intense accumulation in the mass. Resection of the mass was performed and it was histologically diagnosed as idiopathic tumoral calcinosis.
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PMID:Intense F-18 FDG accumulation in idiopathic tumoral calcinosis. 1930 54

Tumoral calcinosis is a rare condition characterized by deposits of calcium hydroxyapatite crystals in periarticular soft tissues. Three clinical settings are possible: complication of renal dialysis, hereditary and sporadic. The condition more commonly affects adults, is rare in children and extremely uncommon in infants. A case of sporadic tumoral calcinosis of the hip is reported in a six-year-old boy for whom the diagnosis was challenging. Surgical treatment was applied because of pain and major functional impairment. A pharmacologic treatment was added for two years. After three years of follow-up, the child was completely asymptomatic and had regained full range of motion. The diagnosis of tumoral calcinosis in children remains challenging.
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PMID:Tumoral calcinosis in children, a challenging and possibly underdiagnosed condition. 1999 85

A 14-year-old girl with juvenile dermatomyositis developed extensive and debilitating calcinosis, unresponsive to colchicine, while muscle involvement subsided. Pamidronate (2mg/kg/year) produced dramatic improvement of pain and function within 2 months and calcinosis had completely resolved by 2 years. No new calcifications have been noted with a 5-year follow-up.
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PMID:Complete resolution of universal calcinosis in a patient with juvenile dermatomyositis using pamidronate. 2003 71

Hemiplegic migraines are characterised by attacks of migraine with aura accompanied by transient motor weakness. There are both familial and sporadic subtypes, which are now recognised as separate entities by the International Classification of Headache Disorders, edition II (ICHD-II). The sporadic subtype has been associated with other medical conditions, particularly rheumatological diseases. We report the case of a woman with sporadic hemiplegic migraine associated with CREST syndrome (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia). Since there is a close relationship between migraine and Raynaud's phenomenon, it could be speculated that the sporadic hemiplegic migraines in our patient might be secondary to CREST syndrome.
J Headache Pain 2010 Apr
PMID:Sporadic hemiplegic migraine and CREST syndrome. 2013 Sep 53


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