Cold contact urticaria is the second most common subtype of physical urticaria. Cold stimulation standardized tests are mandatory to confirm the diagnosis. The aim of this study is to define the ...utility of determining thresholds (critical time and temperature) in assessment of the clinical course of typical acquired cold contact urticaria. Nineteen adult patients (10 women and 9 men; mean age 45 years) were included in the study and the diagnosis was confirmed with the ice-cube test and TempTest 3.0. Patients were treated continuously for 1 year with 20 mg/day rupatadine (anti-H1). Thresholds measurements were made before and after treatment. Improvements in temperature and critical time thresholds were found in the study sample, demonstrating the efficacy of continuous treatment with rupatadine. In most cases association with a clinical improvement was found. We propose an algorithm for the management of acquired cold contact urticaria based on these results.
•Cold-induced urticaria is a variety of urticaria induced by exposure to cold object.•We describe a patient who developed post-infectious sensory neuropathy and cold urticaria.•Anti-ganglioside ...antibodies search in serum was positive for anti-GQ1b and anti-GT1a IgG.•This is the first report of an association between a sensory neuropathy and cold urticaria.
A 64 years-old woman presented subacute onset distal paraesthesia concurrently with cold-induced urticaria, a rare form of physical urticaria. Both the disturbances developed a fortnight after an upper respiratory tract infection. EMG confirmed an exclusively sensory polyneuropathy, with prolongation of distal latencies and reduction of amplitudes. Anti-GQ1b and anti-GT1a antigangliosides antibodies were found in serum. The clinical workout included CSF analysis, cryoglobulin and paraprotein search, neurotropic infective agents, neoplastic markers and extensive autoimmune disease antibodies analysis, all of which resulted negative. Intravenous immunoglobulins were administered, leading to progressive resolution of the sensory disturbance, while a combination of steroid and anti-histaminics treatment was used for the urticaria. The positivity for anti-ganglioside search with an EMG pattern characterized by a mixture of demyelinating and axonal features may suggest a nodo-paranodopathy at early stages. This is the first case of an association between an acute sensory neuropathy and cold urticaria, two immune mediated conditions apparently due to very different hypersensitivity pathways. A proposed mechanism for the co-occurence of these two conditions is presented, whereas this case expands the clinical spectrum of autoimmune diseases associated with anti-GQ1b and anti-GT1a antibodies.
Background Acquired cold urticaria (ACU) is usually a self-limited, sporadic, cutaneous disease diagnosed based on history and a positive cold stimulation time test (CSTT) result. We describe 3 ...unrelated families (A, B, and C) with lifelong atypical cold urticaria distinguished from ACU and familial cold autoinflammatory syndrome. Objective We sought to describe a new hereditary disease of cold urticaria and study its pathogenesis. Methods Questionnaires, interviews, physical examinations, skin testing, and biopsies were performed. Absolute values, means, and prevalence percentages of data are reported. Results Thirty-five subjects are described with familial atypical cold urticaria (FACU; family A, 17; family B, 8; and family C, 10) displaying an autosomal dominant pattern of inheritance. All tested subjects had negative CSTT results. Completed questionnaires from affected and unaffected members of families A and B (n = 35) revealed that all affected subjects had lifelong symptoms that began in early childhood with pruritus, erythema, and urticaria after cold exposure. Angioedema (family A, 23%; family B, 42%) and syncope, near syncope, or both (family A, 46%; family B, 86%) were also present. Triggers included cold atmosphere (100%), aquatic activities (family A, 92%; family B, 100%), handling cold objects (family A, 54%; family B, 71%), and ingestion of cold foods or beverages (family A, 69%; family B, 100%). Skin biopsy specimens demonstrated a mast cell infiltrate with the appearance of degranulation after cold challenge. Conclusions FACU is a new cold-induced inherited disease that is different than ACU in its natural history, atmospheric cold elicitation, severity of systemic reactions, and CSTT results. FACU differs from familial cold autoinflammatory syndrome in symptom timing and the absence of fever, chills, and joint pain. The cause is suspected to be mast cell related. Treatment of reactions is similar to that for ACU. Further evaluation of pathogenesis and genetics is warranted.
Background Acquired cold urticaria (ACU) represents a heterogeneous group of disorders that share a common clinical feature: the development of urticaria or angioedema after cold exposure. We ...present epidemiological and clinical data of subjects with ACU, natural progression and we examine possible parameters that could correlate with disease severity.
Methods During a 10‐year period in all subjects with ACU, detailed record of personal history, laboratory testing, cold stimulation testing (CST), atopy assessment and disease severity took place. In a re‐evaluation visit at the end of the surveillance period, ACU progression was assessed from patients in a subjective way.
Results Four thousand one hundred fifty‐seven individuals with chronic urticaria were referred, and 352 (198 males, 154 females, 8.47% of patients with chronic urticaria) presented definite symptoms of physical urticarias, while 95 individuals (49 males, 46 females, 27% of patients with physical urticarias) were detected with ACU. Sixty‐two participants were included in study analysis. Thirty‐two patients (51.6%) were female; the mean age was 41.5 ± 15.6 years, while the mean age at disease onset was 32.5 ± 15.6 years; half were ≤ 30 years old at disease onset. The mean duration of surveillance was 9.0 ± 6.9 years. During this time interval, 18 patients (29.0%) showed the same or even worse symptomatology, 26 patients reported some improvement (41.9%), while in 18 patients, symptoms resolved completely (29.0%); the mean time to resolution was 5.6 ± 3.5 years. Disease severity was the only variable statistically significantly related to disease progression (P = 0.004).
Conclusions Cold urticaria is a chronic persistent disorder with occasional severe clinical manifestations.
Cryopyrin-associated periodic syndromes (CAPS) are linked to one single gene mutations, however they are associated with 3 syndromes, which are, from the mildest to the most severe phenotype familial ...cold urticaria, Muckle-Wells syndrome and chronic, infantile, neurologic, cutaneous, articular (CINCA) syndrome also called neonatal-onset multisystem inflammatory disease (NOMID). Autosomic dominant inheritance is present in most cases but in CINCA/NOMID syndrome where neomutations are more common. Mutations in the gene encoding cryopyrin, NLRP3, are associated with deregulation of caspase-1 activity, excessive interleukin-1 production and an autoinflammatory syndrome, which in familial cold urticaria and Muckle-Wells syndrome may be triggered or worsened by exposure to coldness. More and more mutations are described and even somatic mutations that can explain some clinical signs beginning in adulthood. Patients disclose a pseudo-urticarial rash, arthralgia, headaches, sometimes fever, biological inflammation but also, in severe forms of the disease, neurologic inflammation with central deafness, ophthalmologic inflammation, chronic meningitis. Some CINCA/NOMID patients also develop growth cartilage pseudo-tumoral hypertrophy. Natural disease history is usually benign in familial cold urticarial but severe in the other forms, particularly regarding neuro-sensorial involvement. In addition, secondary AA amyloidosis may develop in all forms in the absence of control of chronic inflammation. Anti-interleukin-1 treatment with anakinra, rilonacept or canakinumab induces in most cases complete remission, however sequelae may be present, particularly if central deafness or cartilage bone hypertrophy have already developed. This treatment is also important to prevent secondary amyloidosis or stabilize and even sometimes allow improvement of amyloidosis lesions.
Background: Familial cold autoinflammatory syndrome (FCAS), commonly known as familial cold urticaria, is a rare autosomal dominant inflammatory disorder with episodic symptoms precipitated by ...exposure to cold. Objective: The goal of this study was to formulate clinical diagnostic criteria for FCAS in a large cohort in whom the diagnosis of FCAS was supported by genetic linkage to chromosome 1q44. Methods: We assessed 45 affected and 68 unaffected members from 6 American families. DNA analysis was performed to confirm linkage to chromosome 1q44. Clinical characteristics were determined by means of analysis of detailed questionnaires and medical histories. Results: Pedigree and genetic analyses confirmed autosomal dominant transmission and linkage to chromosome 1q44 in all families. The most consistent symptoms during attacks were rash (100%), fever (93%), arthralgia (96%), and conjunctivitis (84%). Age of onset was within the first 6 months of life in 95% of affected subjects. The average delay between cold exposure and onset of symptoms was 2.5 hours, and the average duration of an episode was 12 hours. Renal disease with amyloidosis occurs infrequently in FCAS (2%). Conclusion: The most consistent clinical characteristics of FCAS that discriminate it from other periodic fevers are association with cold exposure, conjunctivitis, age of onset, duration of episodes, and an autosomal dominant inheritance pattern. On the basis of the analysis of genotype and phenotype of FCAS, we formulated clinical diagnostic criteria that can be used to distinguish FCAS from other hereditary periodic fever syndromes. (J Allergy Clin Immunol 2001;108:615-20.)
Background: Cold urticaria is often resistant to first line treatment with second-generation H1-antihistamines. Case summary: We report a case of a fifty year-old woman with a history of cold ...urticaria showing no response to classic treatments, treated successfully with hydroxychloroquine initially prescribed to treat her frontal fibrosing alopecia. Conclusion: Hydroxychloroquine may be a successful treatment option for recalcitrant cold urticaria.
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