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)

Wells' syndrome is a rare dermatological disease whose origin remains uncertain. Based on clinical, biological and etiological data, it might be recognized as a major form of urticaria. The triggering factors are numerous and unspecific. As revealed by the 51Cr-EDTA test which measures intestinal permeability, the lesions do not seem to be caused by an excess of antigens passing through the intestinal mucosa.
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PMID:Wells' syndrome: report of 2 cases. 149 77

The eosinophil has characteristic granules containing a variety of mediators that may be important in the pathogenesis of cutaneous disease. Although numerous cutaneous diseases may be associated with tissue infiltration with eosinophils, in very few disorders, including Wells' syndrome, angiolymphoid hyperplasia with eosinophilia, and granuloma faciale, does the pattern of eosinophil infiltration contribute to the characteristic histopathologic picture. Immunofluorescence studies demonstrating eosinophil degranulation in the skin, particularly in urticaria and angioedema, have provided evidence to support a role for eosinophil mediators in the pathogenesis of certain cutaneous diseases.
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PMID:The eosinophil. 307 52

The Muckle and Well's syndrome corresponding to a transmission of the autosomic dominant type, combines bouts of urticaria, episodes of arthralgias to a shrinking of the ear and a sensory deafness. Sometimes, it evolves into a renal amylosis. Sometimes, as the case presented here, it combines multiple malformations. Its place in nosology is imprecise. It is, at the same time, close to systemic urticaria, sensory deafness, amylosis and specially amylosis of the periodic disease. But the common link between the various elements of the syndrome remains undetermined, for the time being.
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PMID:[Muckle-Wells syndrome or association of joint pain attacks, urticarial outbreaks and sensory deafness?]. 356 75

Five patients are described with the clinical and histopathologic picture, including flame figures, of eosinophilic cellulitis (Wells' syndrome). Two of them had documented tick bites in the center of these expanding annular lesions, and the histologic picture showed the diagnostic flame figures of Wells' syndrome (eosinophilic cellulitis). A third patient had a clinical picture suggestive of a tick bite reaction but stated she was stung by a small garden bee at the involved site. The fourth patient removed a spider from the site of a spider bite, and this nodule also histopathologically was identical to that of eosinophilic cellulitis. Our fifth patient presented with papular urticaria of flea bites. We suggest that the characteristic flame figures of eosinophilic cellulitis (Wells' syndrome) are not diagnostic of a specific disease entity but rather a striking and peculiar histopathologic response to multiple factors of which arthropod bites (ticks, bees, fleas, and spiders) represent one definite etiology.
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PMID:Eosinophilic cellulitis (Wells' syndrome): histologic and clinical features in arthropod bite reactions. 651 50

Wells' syndrome, or eosinophilic cellulitis, is characterized by recurrent cutaneous swellings which resemble acute bacterial cellulitis, and by distinctive histopathological changes. Skin lesions show dermal eosinophilic infiltration and the characteristic 'flame figures', which are composed of eosinophil major protein deposited on collagen bundles. The idiopathic hypereosinophilic syndrome is a multisystem disease with a high mortality rate. It is characterized by peripheral blood eosinophilia and eosinophilic infiltration of many organs, including the skin. The most common skin lesions are pruritic maculopapules and nodules over the trunk and limbs, with urticaria and angio-oedema. In contrast to Wells' syndrome, the pathology of these skin lesions is non-specific with variable eosinophil infiltration. We report overlapping clinical and histopathological findings characteristic of both syndromes in one patient. Our data favour the hypothesis that both syndromes represent an abnormal eosinophilic, response to a variety of underlying diseases or causative agents and thus are different expressions of one disease entity linked to the immunobiology of eosinophils.
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PMID:Wells' syndrome associated with idiopathic hypereosinophilic syndrome. 947 Sep 19

The genetic bases for several human autoinflammatory syndromes have recently been identified, and the mutated proteins responsible for these diseases are rapidly being characterized. Here, we examine two of these newly identified proteins, pyrin (also called marenostrin, product of the familial Mediterranean fever locus, MEFV) and cryopyrin (product of the CAIS1 locus, and mutated in familial cold urticaria, Muckle Wells syndrome and chronic infantile neurological cutaneous and articular syndrome). Both pyrin and cryopyrin contain an N-terminal domain that encodes a death domain-related structure, now known as the pyrin domain, or PyD. We trace the molecular interactions mediated by these PyDs, examine the evolution of the family of molecules containing this domain, and discuss the function of PyD-containing proteins and their homologues. Synthesis of the available data indicates that both pyrin and cryopyrin interact via their PyDs with a common adaptor protein, ASC. ASC itself participates in at least three important cellular processes: apoptosis, recruitment and activation of pro-caspase-1 (with associated processing and secretion of IL-1beta), and activation of NF-kappaB (a transcription factor involved in both initiation and resolution of the inflammatory response). Through PyD:PyD interactions, pyrin and cryopyrin, as well as several related, but still uncharacterized PyD containing proteins, appear to modulate the activity of all three of these processes, each of which plays a crucial role in the inflammatory pathways that characterize the innate immune system.
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PMID:Fire and ICE: the role of pyrin domain-containing proteins in inflammation and apoptosis. 1237 36

We have established the INFEVERS--INternet periodic FEVERS--website (which is freely accessible at http://fmf.igh.cnrs.fr/infevers/). Our objectives were to develop a specialist site to gather updated information on mutations responsible for hereditary inflammatory disorders: i.e. Familial Mediterranean Fever (FMF), TRAPS (TNF Receptor 1A Associated Syndrome), HIDS (HyperIgD Syndrome), MWS (Muckle-Wells Syndrome)/FCU (Familial Cold Urticaria)/CINCA (Chronic Infantile Neurological Cutaneous and Articular Syndrome). Contributors submit their novel mutations through a 3 step form. Depending on the disease concerned, a member of the editorial board is automatically solicited to overview and validate new submissions, via a special secured web interface. If accepted, the new mutation is available on the INFEVERS web site and the discoverer, who is informed by email, is credited by having his/her name and date of the discovery on the site. The INFEVERS gateway provides researchers and clinicians with a common access location for information on similar diseases, allowing a rapid overview of the corresponding genetic defects at a glance. Furthermore, it is interactive and extendable according to the latest genes discovered.
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PMID:INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations. 1252 3

For cellulitis that does not respond to conventional antimicrobial treatment, clinicians should consider, among other explanations, several noninfectious disorders that might masquerade as infectious cellulitis. Diseases that commonly masquerade as this condition include thrombophlebitis, contact dermatitis, insect stings, drug reactions, eosinophilic cellulitis (the Wells syndrome), gouty arthritis, carcinoma erysipelatoides, familial Mediterranean fever, and foreign-body reactions. Diseases that uncommonly masquerade as infectious cellulitis include urticaria, lymphedema, lupus erythematosus, sarcoidosis, lymphoma, leukemia, Paget disease, and panniculitis. Clinicians should do an initial diagnostic work-up directed by the findings from a detailed history and complete physical examination. In many cases, skin biopsy is the only tool that helps identify the correct diagnosis. Special tests may also be needed.
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PMID:Narrative review: diseases that masquerade as infectious cellulitis. 1623 Jul 33

During the first attacks of familial Mediterranean fever, each of the disease symptoms can suggest a series of disorders. When the disease is older, the recurrence of symptoms may simulate some systemic diseases, but mainly suggests familial Mediterranean fever, one of a group of hereditary autoinflammatory diseases. Before the gene for familial Mediterranean fever was identified, various sets of criteria were used for diagnosis. The presence of MEFV mutations confirms the diagnosis, but the clinical criteria still determine who should undergo this genetic testing. The genotype-phenotype correlations add a prognostic dimension to the mutations identified. Genotyping can also lead to the diagnosis of the other autoinflammatory diseases, which constitute the basis of the differential diagnosis of familial Mediterranean fever. The hyperimmunoglobulinemia D syndrome (HIDS) is very similar to familial Mediterranean fever in its recessive transmission and abdominal and articular symptoms. It can be distinguished by the European origin of the patients, the presence of cervical lymph nodes and the increased IgD levels. Of the diseases with dominant transmission, the TNF receptor-associated periodic syndromes (TRAPS) are suggested by periorbital edema and migrating inflammatory cellulitis. Muckle and Wells syndrome is revealed by episodes of fever with urticaria and arthralgia, complicated by deafness and amyloidosis. Mutations in the same gene are responsible for two disorders, both appearing in childhood: familial cold urticaria syndrome (FCUS) and chronic infantile neurocutaneous articular syndrome (CINC). The pathogenesis of familial Mediterranean fever is still unclear. Pyrin/marenostrin, the protein produced by the MEFV gene, appears to hae a physiological antiinflammatory effect that inhibits proinflammatory cytokines. Mutation of the gene may eliminate this feedback mechanism and expose the patient to flares from any inflammatory stimulus, even minimal. Amyloid is produced by the serum amyloid A protein (SAA), and its occurrence is influenced by the type of MEFV mutation, but also the genotype of the gene producing SAA.
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PMID:[Familial Mediterranean fever among the autoimmune diseases]. 1614 54

Four diseases presenting mainly as intermittent bouts of inflammatory symptoms have been clinically and genetically characterized. At the head of this group is familial Mediterranean fever, which affects thousands of patients of Mediterranean ancestry. The other three entities are the tumor necrosis factor receptor superfamily 1A-associated periodic fever syndrome (TRAPS) with a dominant mode of inheritance; hyperimmunoglobulinemia D and periodic fever syndrome (HIDS); and the most recently recognized entity, which includes Muckle Wells syndrome, familial cold urticaria, and the chronic infantile neurological cutaneous and articular (CINCA) syndrome. Proper diagnosis of these entities is needed to begin specific clinical and therapeutic management.
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PMID:[Hereditary recurrent fever syndromes]. 1643 46


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