病例报告：一名患有严重炎症性皮肤病且有新突变的儿科患者使用生物制剂治疗成功。
Case report: Successful treatment with biologics in a pediatric patient with a severe inflammatory skin disease and novel mutation.
作者信息
Niedźwiedź Michał, Narbutt Joanna, Siekierko Aleksandra, Skibińska Małgorzata, Kwiek Bartłomiej, Sobolewska-Sztychny Dorota, Ciążyńska Magdalena, Poznańska-Kurowska Katarzyna, Gostyński Antoni, Lesiak Aleksandra
机构信息
Department of Dermatology, Pediatric Dermatology and Oncology, Medical University of Lodz, Lodz, Poland.
International Doctoral School, Medical University of Lodz, Lodz, Poland.
出版信息
Front Med (Lausanne). 2024 Feb 5;11:1360248. doi: 10.3389/fmed.2024.1360248. eCollection 2024.
(caspase activation and recruitment domain) mutations have been associated with psoriasis vulgaris, psoriatic arthritis, generalized and palmoplantar pustular psoriasis, pityriasis rubra pilaris, and atopic dermatitis. We present a pediatric patient with a novel : c.394A > T/- (Ile123Phe) mutation, diagnosed with -associated papulosquamous eruption (CAPE), who was successfully treated with biological treatment.
（半胱天冬酶激活和募集结构域）突变与寻常型银屑病、银屑病关节炎、泛发性和掌跖脓疱型银屑病、毛发红糠疹以及特应性皮炎有关。我们报告了一名患有新型c.394A>T/-（Ile123Phe）突变的儿科患者，被诊断为与[该结构域]相关的丘疹鳞屑性皮疹（CAPE），其通过生物治疗获得成功治愈。
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