Dermatomyositis (DM) is a poorly prognostic autoimmune disease the pathogenesis of which is multifactorial and not clearly defined. DM may be influenced by genes, environment, and immunity. The typical manifestations of DM are Gottron rash, heliotrope rash, rash on the shoulders and buttocks, erythema around fingernails, excessive keratosis of the epidermis, mechanic's hands, and interstitial lung disease (ILD), among others. Anti‐melanoma differentiation‐associated 5 gene (MDA5) antibody has been strongly associated with DM. Furthermore, anti‐SSA/Ro52 antibody has been reportedly associated with DM. A 49‐year‐old woman presented with cough, expectoration, and dyspnea. Relevant examinations revealed elevated levels of muscle enzyme, double‐positive anti‐MDA5 and anti‐SSA/Ro52 antibodies, positive rheumatoid factor, and a high titer of anti‐citrullinated protein antibody. DM overlapping rheumatoid arthritis with ILD was confirmed. We suggest the use of glucocorticoids combined with immunosuppressant therapy, supplemented with gastric and liver protection, and recommend the use of intravenous immunoglobulins and rituximab.
Rheumatoid arthritis (RA) is a chronic inflammatory disease, which typically affects the small joints of the hands and feet. Anti‐rheumatism drugs should be promptly administered upon a diagnosis. Without standardized treatment, patients are prone to different degrees of deformities in the later stages of disease development, which negatively impact quality of life. We here report a case of a 52‐year‐old woman with an 18‐year history of RA. After intermittent immunotherapy with anti‐rheumatism drugs, the patient presented with multiple joint pain, dislocation, and disintegration of the bone. The interphalangeal joints of both hands were deformed to varying degrees and movement was significantly limited. After anti‐rheumatism treatment, the patient experienced reduced joint pain. This case should enhance understanding and serve as a guide for patient management toward the prevention of joint deformities caused by RA.
IntroductionAcute generalized exanthematous pustulosis (AGEP) is a rare condition characterized by superficial pustules following drug ingestion or infection. Currently, there is no clear link between rheumatism and AGEP. It has been described that hydroxychloroquine (HCQ) is a rare cause of acute generalized epidermal necrolysis (AGEP). Presently, there are limited studies on HCQ-induced AGEP. We aimed to explore the clinical features and associated gene expression of AGEP induced after HCQ treatment exposure in rheumatology patients.MethodsWe assessed patients with HCQ-induced AGEP diagnosed at the Second Affiliated Hospital of Guizhou University of Chinese Medicine between January 1, 2017, and May 1, 2022. We also reviewed similar cases reported in specific databases.ResultsThe study included five females (mean age, 40.2 years), and the mean time from initiation of HCQ treatment to symptom onset was 12.2 d. All patients received steroids and allergy medications after HCQ discontinuation, and the rash completely resolved within an average of 25.2 d. We performed whole exome sequencing and Sanger validation in our patient sample. CARD14 gene mutations were detected in three patients. Additionally, seven mutation sites were detected.DiscussionHCQ-induced AGEP may have a longer latency period and regression time than AGEP induced by other drugs. Our patients all experienced CARD14 gene mutations. AGEP often resolves with topical therapy and drug discontinuation, although some cases require systemic steroid therapy. In the future, patients with rheumatism should pay attention to the effectiveness of HCQ during treatment and be aware of the associated skin toxicity.
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