Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0235886 (leg edema)
 674 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We treated a patient with nongranulomatous panuveitis associated with idiopathic retroperitoneal fibrosis who had symptoms of abdominal pain, severe fever, leg edema, and blurred vision. A high C-reactive protein level, a high erythrocyte sedimentation rate, anemia, and abnormalities of the immune system were seen. Retrograde pyelography disclosed persistent ureteral obstruction. A computed tomographic scan and magnetic resonance imaging showed a dense plaque of fibrous tissue around the kidney and hydronephrosis. Biopsy disclosed fibrosis infiltrated with lymphocytes, plasma cells, histiocytes, and eosinophils. A moderate degree of cellular inflammation in the anterior chamber and cystoid macular edema were present at ocular examination. We believe idiopathic retroperitoneal fibrosis to be a new cause of uveitis of suspected autoimmune origin.
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PMID:A case of uveitis associated with idiopathic retroperitoneal fibrosis. 812 11

We describe a case of an HIV-negative man who was mistakenly diagnosed as having systemic sarcoidosis, which led to a delay in diagnosing tertiary syphilis and Kaposi sarcoma (KS). The patient presented initially with scrotal swelling and leg oedema. Initial blood tests were unremarkable and HIV testing was negative. The patient then developed unilateral limb weakness. Computed tomography showed lung lesions and hilar lymphadenopathy, while magnetic resonance imaging showed an increased signal in the cervical cord. Serum angiotensin-converting enzyme was raised, and a diagnosis of sarcoidosis was made and the patient started on steroids. Subsequently, his clinical symptoms and radiological abnormalities improved. However, he then developed progressive neurological deficits over several weeks, together with uveitis and cutaneous lesions. A uveitis screen showed a raised venereal disease research laboratory test titre and the cause of his multisystemic symptoms was revisited. He was diagnosed with tertiary syphilis and treated with antibiotics. Dermatologists reviewed the skin lesions and diagnosed KS, which was confirmed with biopsies. The patient's neurological deficit remains. Syphilis should be considered in the differential diagnosis of any patient presenting with neurological problems, skin lesions or symptoms affecting multiple systems. Co-existing KS presented an extra therapeutic challenge in this case.
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PMID:Tertiary syphilis and Kaposi sarcoma mistaken for systemic sarcoidosis in an HIV-negative patient. 2615 Feb 7

Blau syndrome is a rare disorder that is classically characterised by granulomatous arthritis, skin eruptions and uveitis, which occur in the absence of lung involvement. Blau syndrome has been linked to encoding mutations in the NOD-2 gene and is inherited in an autosomal dominant form. The most commonly observed mutations are missense substitutions affecting the arginine residue at position 334. The rare E600A mutation has been described as causing uveitis without skin involvement. Our patient is a 54-year-old man with an unusual heterozygous c.1799A>C(E600A) mutation, who was seen for bilateral lower extremity swelling and pain. On physical examination, he was found to have lower leg oedema with decreased hair growth on the affected area. Biopsy showed non-caseating micro-granulomas consistent with a diagnosis of Blau syndrome. The patient had excellent response to colchicine, but this was stopped because he developed elevated transaminases. Thus, we present an unusual genetic form of a rare condition and we demonstrate skin involvement in a subtype where cutaneous involvement has not hitherto been reported. In addition, the type and presentation of the skin involvement is different from that normally found in classic Blau syndrome. Finally, we report his response to colchicine, although it was ultimately not tolerated by this patient.
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PMID:Granulomatous skin involvement in a patient with an unusual NOD2 mutation. 2676 19