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The text is the summary of recent articles on Chilblains at 75 thresold from National Library of Medicine (NLM). This information is subject to NCBI's Disclaimer and Copyright notice.
Interestingly, chilblains were observed in the two sisters as well as their parents and a paternal uncle . Primary outcome was the visual analogue Scale on complaints (VOC) . Secondary outcome was the visual analogue Scale on disability (VOD) . Both were assessed with a diary of daily scores on a 100 mm visual analogue Scale . A total of 32 patients with Chronic chilblains were randomly assigned to nifedipine (30 mg controlled release twice a day) or placebo .
However, in some cases, the presenting Symptom of concern may actually be cutaneous rather than neurological, leading to the misdiagnosis of the condition . The study population consisted of 192 relatives of 31 case probands (at least one confirmed episode of chronic chilblains) . Many therapeutic agents have been tried with either unsatisfactory or controversial results . A total of 110 patients with chilblains completed this therapeutic trial . He also presented Atypical skin lesions, different from chilblains .
Musculoskeletal manifestations may constitute the presenting symptoms . These manifestations can be inaugural and lead to diagnostic wanderings . To date, interferonopathies include Aicardi-Goutières syndrome, familial chilblain lupus, spondyenchondromatosis, PRoteasome-associated auto-inflammatory syndrome (PRAAS) and Singleton-Merten syndrome . These diseases present phenotypic overlap including cutaneous features like chilblain lupus, that can be inaugural or present within the first months of life . Patients, satisfying clinical criteria for the diagnosis of chilblains were included into the study .
In the case of acrocyanosis, spontaneous digital haematomas and typical Bilateral chilblains, examinations are of no value . The TREX1 D18N Mutation causes a monogenic, cutaneous form of lupus called familial chilblain lupus, and the TREX1 D18N enzyme exhibits dysfunctional dsDNA-degrading activity, providing a link between dsDNA degradation and nucleic acid-mediated Autoimmune Disease . Unlike previously reported TREX1 mutations, which affect the Exo I or Exo II domains, the Mutation presented here alters the Exo III domain, suggesting a particular role of Mutations within the catalytic Exo domains in the pathogenesis of familial chilblain lupus . Histopathology cannot accurately help distinguish the primary from secondary forms of chilblains . Exposure to cold constricts peripheral arteries and reduces metabolism, resulting in the development of chilblains, frostbite, immersion Foot, and hypothermia .
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