Exploring the mountains is a highly rewarding past time; however, certain high-altitude exposures can lead to dermatologic manifestations. In this review article, the authors will describe cold, ...solar, and severe weather that one may experience when spending time outdoors. Factors such as increased ultraviolet radiation, temperature extremes, and low partial pressure of oxygen, along with human physiologic parameters also contribute to disease severity and presentation. This review article will address the diagnosis, treatment, and prevention of high-altitude dermatology exposures.
Summary
Background Acquired cold urticaria (ACU) is a physical urticaria characterized by local skin reactions after cold exposure. Objective markers of disease severity and activity would be ...helpful. Unfortunately, such markers are not yet available, even though stimulation time and temperature thresholds are promising candidates.
Objectives We assessed and correlated critical temperature thresholds (CTTs) with disease severity and activity in patients with ACU.
Methods CTTs were determined in 45 patients with ACU by TempTest®‐based cold contact stimulation tests (Emo Systems GmbH, Berlin, Germany), and ACU severity and activity were assessed using Likert scales.
Results Patients with ACU exhibited mean ± SEM CTTs of 17 ± 6 °C (range 4–27 °C). These thresholds and their changes correlated with the severity (r = 0·53, P < 0·05) and activity of disease (r = 0·64, P < 0·05), respectively.
Conclusions These findings indicate that temperature threshold measurements may be used for assessing disease severity and activity as well as the efficacy of therapeutic measures including novel treatment approaches for cold urticaria.
Cryopyrin-associated periodic syndrome (CAPS) is a very rare auto-inflammatory syndrome, which has recently served as a pure model of IL-1β-driven diseases. CAPS is caused by mutations into the NLRP3 ...gene that encodes crypoyrin, which serves as a receptor of the innate immunity that senses danger signals and pathogens. Constitutive activation of cryopyrin in CAPS leads to an excessive secretion of IL-1β. CAPS patients experience symptoms of systemic inflammation, intense fatigue and have poor quality of life. In the most severe forms, they may develop serious organ damage such as visual and hearing impairment, neurological deterioration and renal insufficiency. Anti-IL-1 drugs are effective in treating symptoms of almost all CAPS patients and have radically transformed their lives. We describe the history of the 'revival' of CAPS patients through anti-IL-1 treatments with a special focus on anakinra, the first drug used in cohorts with variable disease severity and number of patients.
Cold urticaria consists of an allergic immune response to cold temperatures with symptoms ranging from pruritic wheals to life-threatening angioedema, bronchospasm, or anaphylactic shock. Adequate ...planning to maintain normothermia perioperatively is vital due to impaired hypothalamic thermoregulation and overall depression of sympathetic outflow during deep sedation and general anesthesia. This case report describes the successful perioperative management of a 45-year-old female with a history of cold urticaria undergoing a laparoscopic Nissen fundoplication for refractory gastroesophageal reflux disease and discusses how to appropriately optimize the care of these patients.
Cold urticaria (CU) is a subtype of physical urticaria characterized by the development of urticaria and angioedema after cold exposure. Symptoms typically occur minutes after skin exposure to cold ...air, liquids, and objects. Most common method to confirm the diagnosis of CU is through ice cube challenge test, but 20% of patients with CU have negative ice cube challenge test results. The greatest risk with this kind of urticaria is the development of systemic reaction resulting in a hemodynamic collapse during generalized cold exposure. We report a case of a patient who developed CU and anaphylaxis during swimming and diving in the sea.
Background: The diagnostic value of molecular analysis of the familial Mediterranean fever (FMF) gene (Mediterranean fever (MEFV)) has been well established only in patients selected on the basis of ...ethnic background or clinical criteria. Genetic diagnosis for other hereditary periodic fever syndromes has been poorly evaluated. Objective: To determine the diagnostic contribution of genetic tests for hereditary periodic syndromes in a large, unselected series of patients. Methods: A retrospective study was conducted on 1941 patients referred to us for FMF genetic tests between 1997 and 2005. MEFV genotypes were compared with clinical data to appraise criteria for FMF diagnosis. Genetic tests for tumour necrosis factor receptor-associated periodic syndrome (TRAPS), hyperimmunoglobulinaemia D syndrome (HIDS) and cryopyrin-associated periodic syndromes (CAPS) were also reviewed. Results: 71% of the 1574 patients with enough data had a clinical diagnosis of FMF according to the widely used Israeli criteria. Two MEFV mutations were found in only 409 patients of this subgroup (sensitivity = 37%) and in 15 (3.3%) of the patients with an improbable clinical diagnosis of FMF (specificity = 97%). Molecular diagnosis for alternate hereditary periodic syndromes was carried out in 456 of the patients having a non-conclusive FMF genetic test. A positive diagnosis was obtained in 31 of these patients (TRAPS (n = 19), HIDS (n = 4) and CAPS (n = 8)). Conclusions: First-line MEFV mutation screening in patients with clinically typical FMF may be appropriate only in particular areas. To optimise genetic diagnosis, we propose a decision tree, which, with the advice of an expert practitioner, could help redirect test indications towards non-FMF hereditary periodic syndromes.
Cold urticaria is a skin condition characterized by rapid appearance of itchy wheals and occasionally angioedema in response to cold stimulation. Antihistamines do not sufficiently protect all ...patients from symptoms, even when used in higher than standard doses. In these patients, desensitization to cold can be beneficial. The aim was to investigate whether desensitization can lower temperature thresholds and reduce release of histamine in the skin. Cold urticaria patients were subjected to desensitization and assessed for skin responses to cold stimulation and codeine before and after. Histamine levels mediated by cold and codeine were determined by cutaneous microdialysis before and after desensitization in patients and healthy controls. Desensitization to cold resulted in protection from cold-induced symptoms and lower temperature thresholds in six out of nine patients. Desensitization also prevented histamine release after skin exposure to cold. Surprisingly, skin histamine levels and release after codeine injection were found to be normal in desensitized patients.
CAPS is a rare autoinflammatory disease associated with mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of IL-1beta and IL-18, and systemic ...inflammation. Genetic testing has allowed for grouping of the three, previously distinct clinical syndromes of FCAS, MWS and NOMID, into a single syndrome termed CAPS. The clinical features include urticarial rash and fever, CNS and musculoskeletal involvement, ocular disorders and progressive deafness. Onset, severity and complications (mainly retardation, seizures, destructive arthropathy and amyloidosis) depend on the specific mutation. Diagnosis is determined by genetic tests but is often delayed due to lack of awareness. In Israel, the relative abundance of other autoinflammatory disorders (FMF, Behçet's disease) may result in misdiagnosis. Treatment is based on IL-1 antagonism, which usually results in prompt clinical response and may prevent amyloidosis.
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