Celestino Gabriela Gomes, Amarante Marla Karine, Vespero Eliana Carolina, Tavares Eliandro Reis, Yamauchi Lucy Megumi, Candido Érika Donizetti, de Oliveira Danielle Bruna Leal, Durigon Edison Luiz, Yamada-Ogatta Sueli Fumie, Faccin-Galhardi Ligia Carla
Departamento de Microbiologia, Universidade Estadual de Londrina, Londrina 86057-970, Paraná, Brazil.
Departamento de Patologia, Universidade Estadual de Londrina, Análises Clínicas e Toxicológicas, Londrina 86038-350, Paraná, Brazil.
Pathogens. 2023 Mar 10;12(3):438. doi: 10.3390/pathogens12030438.
The present case study describes the dermatological manifestations of COVID-19 in a patient with genetic thrombophilia (MTHFR-C677T mutation) and the identification of a SARS-CoV-2 variant of interest (VOI). A female patient, 47 years old, unvaccinated, with thrombophilia, was diagnosed with COVID-19. She presented with urticarial and maculopapular eruptions from the seventh day of symptoms, which progressed to multiple lesions with dark centers (D-dimer value > 1450 ng/mL). The dermatological manifestations disappeared after 30 days, corroborating the reduction in D-dimer levels. Viral genome sequencing revealed infection by the VOI Zeta (P.2). Antibody testing, performed 30 days after the onset of symptoms, detected only IgG. The virus neutralization test showed the highest neutralizing titer for a P.2 strain, validating the genotypic identification. Lesions were suggested to be due to infection in skin cells causing a direct cytopathic effect or release of pro-inflammatory cytokines triggering erythematous and urticarial eruptions. In addition, vascular complications are also proposed to be due to the MTHFR mutation and increased D-dimer values. This case report is an alert about COVID-19 in patients with pre-existing vascular diseases, especially in unvaccinated patients, by VOI.
本病例研究描述了一名患有遗传性血栓形成倾向（MTHFR - C677T突变）的患者感染新冠病毒（COVID - 19）后的皮肤表现，并鉴定出一种值得关注的严重急性呼吸综合征冠状病毒2（SARS-CoV-2）变异株（VOI）。一名47岁未接种疫苗且患有血栓形成倾向的女性患者被诊断为感染了COVID - 19。从症状出现的第七天起，她出现了荨麻疹和斑丘疹，随后发展为多个中心颜色较深的皮损（D - 二聚体值>1450 ng/mL）。30天后皮肤表现消失，这与D - 二聚体水平的降低相一致。病毒基因组测序显示感染了VOI Zeta（P.2）变异株。症状出现30天后进行的抗体检测仅检测到IgG。病毒中和试验显示对P.2毒株的中和效价最高，证实了基因鉴定结果。皮损被认为是由于皮肤细胞感染导致直接细胞病变效应，或促炎细胞因子释放引发红斑和荨麻疹样皮疹。此外，血管并发症也被认为是由于MTHFR突变和D - 二聚体值升高所致。本病例报告为患有既往血管疾病的患者，尤其是未接种疫苗的患者，就VOI引起的COVID - 19发出了警示。
