Familial cold urticaria. Clinical findings

Doeglas, H.M.G.

doi:10.1001/archderm.110.3.382

Cited by 20 publications

(15 citation statements)

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“…As the name suggests, episodes of familial cold autoinflammatory syndrome may follow exposure to low ambient temperatures. 10,11 The hallmarks of CAPS episodes are evanescent, nonpruritic, urticaria-like papules and confluent geographic plaques on the trunk and extremities, periodic fevers, and distal arthralgia (Fig 2). 10,12,13 Skin histology reveals a sparse interstitial, perivascular, or perieccrine neutrophilic infiltrate.…”

Section: Monogenic Autoinflammatory Syndromesmentioning

confidence: 99%

Autoinflammation: From monogenic syndromes to common skin diseases

Nguyen

Cowen

Leslie

2013

Journal of the American Academy of Dermatology

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Autoinflammation is characterized by aberrant regulation of the innate immune system and often manifests as periodic fevers and systemic inflammation involving multiple organs, including the skin. Mutations leading to abnormal behavior or activity of the interleukin 1 beta (IL-1ß)-processing inflammasome complex have been found in several rare autoinflammatory syndromes, for which anticytokine therapy such as IL-1 or tumor necrosis factor-alfa inhibition may be effective. It is becoming clear that features of autoinflammation also affect common dermatoses, some of which were previously thought to be solely autoimmune in origin (eg, vitiligo, systemic lupus erythematosus). Recognizing the pathogenetic role of autoinflammation can open up new avenues for the targeted treatment of complex, inflammatory dermatoses.

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Section: Monogenic Autoinflammatory Syndromesmentioning

confidence: 99%

Autoinflammation: From monogenic syndromes to common skin diseases

Nguyen

Cowen

Leslie

2013

Journal of the American Academy of Dermatology

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“…Determinations of anti-trypsin, anti-chymotrypsin and anti-kallikrein activity of plasma of aspirin sensitive patients and controls were performed according to methods described in earlier papers (Doeglas & Bleumink, 1974, 1975.…”

Section: Determination Of Protease Inhibitors and Complement Values Imentioning

confidence: 99%

Reactions to aspirin and food additives in patients with chronic urticaria, including the physical urticarias*

Doeglas¹

2006

British Journal of Dermatology

149

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SUMMARY In 131 patients with chronic urticaria, including physical urticarias, oral provocation tests were done with aspirin. A total of thirty‐one patients showed a reaction on aspirin challenge. Reactions were seen in 35% of patients with idiopathic urticaria, 52% of patients with cholinergic urticaria, and 43% of those with pressure urticaria. The patients with reactions to aspirin were also tested with tartrazine, sodium benzoate, 4‐hydroxy benzoic acid, sodium‐ and phenyl salicylate and the analgesics indomethacin, paracetamol and mefenamic acid. In nineteen of twenty three aspirin sensitive patients, positive reactions to one or more of these substances were observed. Indomethacin and tartrazine had the highest scores. There was no statistically significant correlation between aspirin reactions and the presence of nasal polyposis, sinusitis, asthma or atopy.

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“…An episode starts 2-3 hours after exposure and generally subsides within 24 hours. Attacks are accompanied by an intense acute phase response, as evidenced by high leukocyte counts in peripheral blood [38, 39]. …”

Section: Clinical Considerations and Treatmentmentioning

confidence: 99%

Clinical Genetic Testing of Periodic Fever Syndromes

Marcuzzi

Piscianz

Kleiner

et al. 2013

BioMed Research International

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Periodic fever syndromes (PFSs) are a wide group of autoinflammatory diseases. Due to some clinical overlap between different PFSs, differential diagnosis can be a difficult challenge. Nowadays, there are no universally agreed recommendations for most PFSs, and near half of patients may remain without a genetic diagnosis even after performing multiple-gene analyses. Molecular analysis of periodic fevers' causative genes can improve patient quality of life by providing early and accurate diagnosis and allowing the administration of appropriate treatment. In this paper we focus our discussion on effective usefulness of genetic diagnosis of PFSs. The aim of this paper is to establish how much can the diagnostic system improve, in order to increase the success of PFS diagnosis. The mayor expectation in the near future will be addressed to the so-called next generation sequencing approach. Although the application of bioinformatics to high-throughput genetic analysis could allow the identification of complex genotypes, the complexity of this definition will hardly result in a clear contribution for the physician. In our opinion, however, to obtain the best from this new development a rule should always be kept well in mind: use genetics only to answer specific clinical questions.

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Familial cold urticaria. Clinical findings

Cited by 20 publications

References 0 publications

Autoinflammation: From monogenic syndromes to common skin diseases

Autoinflammation: From monogenic syndromes to common skin diseases

Reactions to aspirin and food additives in patients with chronic urticaria, including the physical urticarias*

Clinical Genetic Testing of Periodic Fever Syndromes

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