![]() ![]() This same in-frame deletion was observed in her father who shares a similar clinical phenotype.Ī clinical diagnosis of familial cold inflammatory-like syndrome secondary to a NLRC4 gene deletion was concluded based on cold-induced onset of symptoms and genetic testing (Invitae™). This variant was a 93-base-pair in-frame deletion of the genomic region of Exon 5 of the leucine rich repeat (LRR) domain that preserved the integrity of the reading frame (Exon 5 starting at c.2258 and ending at c.2350 ). ![]() The genetic testing revealed a variant mutation in the NLRC4 gene of uncertain significance. A genetic autoinflammatory panel was performed (Invitae™). The laboratory studies prior to her referral revealed an ANA titer of 1:40 with homogenous pattern. She also has a history of chronic oral ulcers that are exacerbated by the episodes. Of note, she has a history of bilateral chronic sensorineural hearing loss unrelated to Ménière’s disease. Her past medical history is significant for Rosacea and Ménière’s disease. Steroids during her hospital course provided only minimal relief and have not prevented or reduced the frequency of occurrences. Electrocardiogram and laboratory studies during the hospital visits were unremarkable and her chest pain was thought to be musculoskeletal in etiology. Her attacks have further evolved to include chest pain requiring numerous visits to the hospital for her symptoms. Her joint swelling during each recent episode has become severe enough to impede her ability to ambulate and is accompanied by arthralgia, myalgia, and hypotension. The facial rash has persisted for the past 4 years and has become more pronounced during attacks. She now has attacks that occur 7 to 8 times per year, most notably during the winter. The episodes have since occurred 3 to 4 times per year and have been increasing in frequency and severity in the last 5 years. Her symptoms occurred throughout the winter months and were often related to outdoor activities (sledding). The symptoms first started when she was 5 to 6 years of age with attacks of fever and myalgia. She denied any ocular or abdominal symptoms during the episodes. The patient demonstrated recurrent episodes of low-grade fever, fatigue, facial skin rash and right knee joint effusion that lasted 3 to 6 days most commonly occurring during the winter. A 41-year-old woman nonsmoker presented with facial rash and rheumatologic concerns.
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