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)

We presented an unusual case of ophthalmic herpes zoster masquerading as orbital cellulitis, resulting in delay in appropriate treatment. A 65-year-old woman presented with left periorbital pain and swelling of a week duration. Examination revealed periorbital edema and inflammation but no proptosis. The erythema extended onto the brow. There was no change in visual acuity and cranial nerve function was normal. She was apyrexial and all other parameters were within normal limits. The patient was admitted with an initial diagnosis of sinusitis with orbital cellulitis/dacryocystitis and intravenous co-amoxiclav and a non-steroidal anti-inflammatory drug were administered. The following day, there was little change in her condition with the ocular movements being normal and vision remaining unaffected. She was apyrexial but the periorbital swelling persisted. Computed tomography of the sinuses did not show sinusitis or a periorbital collection. The third day after admission and 10 days after the initial appearance of pain, vesicles appeared on the left forehead, which enabled a diagnosis of herpes zoster of the ophthalmic branch of the trigeminal nerve. She was then treated with acyclovir with a good result.
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PMID:A case of herpes zoster presenting as orbital cellulitis. 1818 89

The cutaneous toxicities of epidermal growth factor receptor(EGFR)inhibitors including cetuximab, gefitinib and erlotinib, and multi-kinase inhibitors including imatinib mesylate, sorafenib, and sunitinib, are described. Acneiform eruption, paronychia and xerosis are common cutaneous toxicities in patients receiving EGFR inhibitors. Acneiform eruption usually consists of follicular papules and pustules without comedones and is observed in more than 50% patients. Paronychia occurs less frequently(10 approximately 15%)than acneiform eruption and involves multiple fingers and great toes. Xerosis is observed in 35% of patients. Painful fissures on the tips of fingers and toes can also develop because of excessive dry skin. Concerning multi-kinase inhibitors, pigmentary disorders and periorbital edema occur frequently during imatinib therapy, and hand foot skin reaction is observed by sorafenib or sunitinib. The hand foot skin reaction is clinically somewhat similar to acral erythema(hand foot syndrome)seen with docetaxel and other classic chemotherapy agents in that the lesions seem to be more discrete and hyperkeratotic. Subungual splinter hemorrhages have also been reported in 60% of patients receiving sorafenib and in 30% of patients receiving sunitinib. Although the mechanism of these cutaneous toxicities has not been fully elucidated, they are suspected to be caused by these molecularly targeted drugsc own actions. Therefore, the presence of these cutaneous toxicities may serve as a surrogate marker of treatment efficacy and a predictor of survival.
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PMID:[Cutaneous toxicities]. 1893 63

Ophthalmopathy is a common manifestation of autoimmune thyroid disease. Periorbital swelling, eyelid lag, exophthalmos, and impaired vision may occur. From 25% to 50% of patients with Graves' hyperthyroidism will have some features of ophthalmopathy. All of the clinically significant eye symptoms and findings among patients with Graves' ophthalmopathy can be traced to one of two phenomena: swelling in the retrobulbar space due to deposition of glycosaminoglycans (GAG) or restriction of extraocular muscle motion, which is attributed to initial swelling and later fibrosis. Patients with Graves' eye disease typically complain of ocular or periocular pain, lacrimation, photophobia, blurred vision, diplopia, or impaired perception of colour. On examination, they exhibit orbital congestion, proptosis, optic neuropathy, restricted gaze, divergent visual axis, corneal exposure, lid retraction, and periorbital edema. This paper describes the main clinical features of Graves' ophthalmopathy, in order to establish measurable and reproducible classifications that can be used in the surgery setting to record changes and to guide and assess therapy. Finally, we recommend the use of objective measurements for proptosis, extraocular movements, corneal alterations, and the optic nerve, using the clinical activity scale or a recorded change in objective measurements to document disease activity, and lastly, documenting the patients' perception of their disease status.
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PMID:[Clinical manifestations of thyroid ophthalmopathy]. 1916 94

Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is an autosomal dominantly inherited rare autoinflammatory disease. It is caused by mutations in exons 2-3 and 4-5 of the tumor necrosing factor receptor superfamily 1A (TNFRSF1A) gene on chromosome 12p13.2. TNFRSF1A gene encodes the 55-kDa receptor for tumor necrosis factor. Attacks are associated with abdominal pain, myalgia, erythematous skin rash, conjunctivitis, and periorbital edema. Until now, more than 80 mutations have been identified. We herein report three patients with TRAPS of Turkish origin. The patients were followed up in our outpatient clinic in Kocaeli University Division of Rheumatology. Because of their TRAPS associated clinical features, we isolated genomic DNA from whole blood and sequenced the exon 2-3 and 4-5 third exon of TNFRSF1A gene after amplification with appropriate primers. One of the patients with TRAPS was 47-year-old female, who described recurrent attacks of fever, urticarial rash, conjunctivitis, arthralgia, myalgia, abdominal pain, thoracic pain, headache, fatigue, and elevated acute phase response since her childhood. With the sequencing of the TNFRSF1A gene, we identified heterozygous C29R mutation, which has not been reported before in any TRAPS patient. The other patients are her sons with similar findings and age 29 and 26. They were heterozygous for C29R mutation in TNFRSF1A gene too. We report novel C29R mutation in three TRAPS patients of Turkish origin, in which the main clinical features are recurrent fever attacks, erythematous skin rash, conjunctivitis, myalgia, and arthralgia. Treatment with steroids resolved the symptoms and lesions.
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PMID:A novel TNFRSF1 gene mutation in a Turkish family: a report of three cases. 2053 35

Nasal osteotomies are the most important cause of periorbital edema and ecchymosis. Injection of lidocaine and adrenaline is recommended to reduce bleeding. Whilst the lidocaine and adrenaline combination (LAC) is claimed to reduce postoperative ecchymosis and edema, this effect remains to be proven conclusively. This study, on 48 patients, was designed to investigate the effects of LAC injection on postoperative edema/ecchymosis in rhinoplasty. LAC was applied at a random side prior to the lateral osteotomy. The opposite side was used as a control. The relationship between edema/ecchymosis and the degree of LAC on the injected and uninjected sides was evaluated on the first, third and seventh day postoperatively. The relationships between edema and ecchymosis with operation time and intraoperative systolic blood pressure were also evaluated. Bleeding was reduced on the side treated with LAC (p=0.050). The degrees of edema/ecchymosis increased with increases in the duration of operation and the systolic blood pressure on the first postoperative day for the LAC-applied side (p<0.05). This correlation was not observed on the opposite side (p>0.05). Application of LAC reduces bleeding during rhinoplasty and pain control postoperatively but reduced edema and ecchymosis should not be expected following LAC application.
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PMID:Effects of lidocaine and adrenaline combination on postoperative edema and ecchymosis in rhinoplasty. 2145 31

Tumor necrosis factor (TNF) receptor-associated periodic syndrome (TRAPS) is a rare autosomal dominant inherited disease that belongs to the group of hereditary fever syndromes, that are also named hereditary auto-inflammatory syndromes. TRAPS is characterized by a variety of naturally occurring mutations in a TNF receptor (TNFR), that affect the soluble TNFRSF1A gene in the 12p13 region. In some patients, the pathogenesis of TRAPS involves defective TNFRSF1A shedding from cell membranes in response to varying stimuli. TRAPS is characterized by the periodic occurrence of a broad variety of different clinical symptoms that represent an acute-phase response, including fever and pain in the joints, abdomen, muscles, skin or eyes, with broad variations across patients. In many cases, skin involvement is present that may include migratory patches, skin rashes, erysepela-like erythema, edematous plaques, urticaria, periorbital edema and/or conjunctivitis. The histology of skin lesions in TRAPS is nonspecific, in general a perivascular dermal infiltrate of lymphocytes and monocytes can be found. Cutaneous findings are of particular importance in TRAPS: they have been shown to give direction to the diagnosis of TRAPS and in most cases their treatment is challenging. As the incidence of TRAPS is very low, no prospective randomized controlled trials and only a few studies with case numbers up to twenty-five patients have been published. No guidelines for TRAPS treatment have been established so far. This review summarizes our present knowledge about pathogenesis, clinical outcome and treatment options of skin manifestations in TRAPS.
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PMID:Skin manifestations in tumor necrosis factor receptor-associated periodic syndrome (TRAPS). 2154 45

Imatinib mesylate, as treatment for gastrointestinal stromal tumors (GIST), has dramatically changed the prognosis for survival - not only because it is efficacious, but also because it attracted attention to this malignant disease. GIST is now a well-known disease entity and a paradigm for targeted therapies in malignant diseases. A now 74-year-old patient presented with recurrence of a primary duodenal GIST (initial diagnosis and primary resection in 1998; diameter 10 cm, KIT exon 11 mutation, PM V559D) and liver metastasis after a second surgical resection was performed in 2000. Conventional chemotherapy with adriamycin and ifosfamide failed to control growth of the relapsed tumor and liver metastasis. In July 2001, compassionate use of imatinib was started. Tumor regression was observed at continuous follow-ups (every 2 months for the first 6 months, and 6 months thereafter) and persisted until now. The patient's physical performance has remained in good condition. Side effects consisted of periorbital edema and sudden muscle cramps of toes and fingers, pain of bones and joints, an intentional tremor, a paler color of the skin, as well as a slight anemia. Imatinib is the first orally administered anticancer drug. Our case shows that a sustained response is possible with continuous therapy over a long time, if the drug is well tolerated. This implies a high compliance of the patient and suggests that resistance to imatinib does not have to develop. Exon 11 (point) mutation might not only represent a positive predictor for imatinib response in general, but especially for imatinib response on long-term.
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PMID:Ten Years of Treatment with 400 mg Imatinib per Day in a Case of Advanced Gastrointestinal Stromal Tumor. 2211 77

A woman presented in the emergency room with the diagnosis of angioedema refractory to treatment. She had soft, compressible periorbital edema, as well as edema of her hands and lower arms. She also complained of severe pain in her hands including sensations of numbness and tingling. The history, course and examination results eliminated several possible differential diagnostic considerations like an acute histamine- or bradykinin-mediated angioedema or superior vena cava syndrome. Histological examination confirmed the diagnosis of scleromyxedema.
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PMID:[Differential diagnose of angioedema. Acute edematous scleromyxedema]. 2466 91

Ophthalmic vein thrombosis (OVT) is a rare condition occurring secondary to varied etiologies that commonly presents with proptosis, globe dystopia, ophthalmoplegia, periorbital edema, and occasionally diminished visual acuity. It may be related to inflammation of the orbit or paranasal sinuses. We herein report imaging findings of thrombosed superior and inferior ophthalmic veins in bilateral involvement in a 20-year-old male patient without cavernous sinus thrombosis. He presented with pain, swelling, and blurred vision in both eyes. Magnetic resonance (MR) imaging, cerebral MR angiography, and susceptibility weighted imaging were performed. Bilateral superior and inferior OVT due to a complication of ethmoidal sinusitis was diagnosed in the patient. Anticoagulant and systemic broad-spectrum antibiotic therapy was started. His symptoms were recorded at the end of 14 days of the treatment.
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PMID:Massive thrombosis of bilateral superior and inferior ophthalmic veins secondary to ethmoidal rhinosunisitis: imaging findings. 2478 47

A 72-year-old man with no medical history initially presented to the emergency room with severe tearing, redness, foreign body sensation, and pain in the left eye. He reported no previous history of any periocular trauma, malignancy, surgery, or systemic illness. On presentation, the patient only showed left periorbital edema and erythema in the left eyelid with no evidence of any skin malignancy. On slit lamp examination, multiple small whitish motile organisms were observed on the left conjunctival fornices. The organisms were removed, preserved, and identified as the third-stage larvae of Lucilia sericata (green bottle fly). The patient was treated with topical antibiotic and steroid eye drops and the inflammation resolved 1 week after treatment initiation. This is the first report of external ophthalmomyiasis caused by facultative parasite, L. sericata maggots in a healthy patient without any predisposing factors.
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PMID:First report of external ophthalmomyiasis caused by Lucilia sericata Meigen in a healthy patient without predisposing risk factors. 2579 16


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