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- W4286111346 abstract "A 42-year-old woman with systemic sclerosis presented to our clinic. The diagnosis was based on sclerodactyly, mutilating arthritis, interstitial lung disease and positive antibodies (ANA, Scl70). She reported progressive dyspnoea and debilitating joint pain. Her medical history included surgery for cleft lip/palate (CL/P); a surgically corrected CL/P was visible. Her hands were severely mutilated, and there was a web-like soft tissue swelling in her popliteal region bilaterally; the second and third toes of both feet showed syndactyly and a pterygium at the hallux (Fig. 1). Genetic testing confirmed an autosomal dominant mutation of interferon regulatory factor 6 on chromosome 1q. A missense mutation (Arg84Cys on exon 4) was identified, which has been suggested to lead to an impaired DNA-binding capacity [1]. We initiated mycophenolate mofetil and nintedanib; 12 months later, we added weekly tocilizumab because her pulmonary function declined. Her dyspnoea improved markedly afterwards. Mutations in IRF6 cause Van der Woude syndrome or popliteal pterygium syndrome [1]. Van der Woude syndrome is associated with CL/P. Popliteal pterygium syndrome is associated with CL/P, syndactyly, pits of the lower lip, web-like structures involving the poplitea or hallux, and external genitalia abnormalities. Polymorphisms of IRF5/7/8 have been described in SSc [2], but the exact physiological role of IRF6 is undefined. Whether IRF6 mutations in SSc are an innocent bystander or a contributing factor requires further investigation." @default.
- W4286111346 created "2022-07-21" @default.
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- W4286111346 date "2022-07-21" @default.
- W4286111346 modified "2023-09-27" @default.
- W4286111346 title "IRF6 mutation in systemic sclerosis: innocent bystander or contributing factor?" @default.
- W4286111346 cites W2049919078 @default.
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- W4286111346 doi "https://doi.org/10.1093/rheumatology/keac414" @default.
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- W4286111346 hasPublicationYear "2022" @default.
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