Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042109 (urticaria)
 6,569 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The cause of angioedema with eosinophilia (AE) is unknown. Patients with AE sometimes develop pruritic eruptions or urticaria before the onset of edema. We report a case of a 37-year-old woman with nonepisodic AE who presented with erythema and livedo reticularis before the onset of edema. The patient noticed erythema on both heels as well as livedo reticularis on her right great toe 1 month prior to presentation. A biopsy specimen from the heel revealed numerous eosinophils with degranulation infiltrating the subcutaneous tissue. One month later, she developed edema on the legs. Histopathologic findings of biopsy specimens obtained from the legs revealed edema and eosinophils in the subcutaneous tissue. Some patients with AE present with pruritic eruptions prior to the onset of edema. The diagnosis of AE in our patient with leg edema of unknown cause was considered prior to the appearance of any pruritic eruptions.
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PMID:A case of nonepisodic angioedema with eosinophilia associated with livedo reticularis and erythema before onset of edema of the legs. 2450 82

We herein report a case of a 75-year-old woman who presented with a low-grade fever, repeated cold-induced urticaria, and painful leg edemas with neutrocytosis. Because her mother also had cold-induced urticaria and her skin lesions histologically showed neutrophilic dermatitis, we suspected that she had familial cold autoinflammatory syndrome, a subtype of cryopyrin-associated periodic syndromes. Sequencing of the NLRP3 and MEFV genes revealed that she carried both the p.A439V missense mutation and p.E148Q homozygous mutation, which is commonly detected in familial Mediterranean fever patients. The administration of colchicine reduced the frequency and severity of her skin rash and leg edema.
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PMID:A Rare Case of Cryopyrin-associated Periodic Syndrome in an Elderly Woman with NLRP3 and MEFV Mutations. 3056 24