Clinical Features of Childhood Behçet 's Disease Like Trisomy 8: A Summary of 19 Cases

  Objective  The clinical characteristics of children with Behçet's disease like trisomy 8 (T8-BD) diagnosed and treated in multi-centers were summarized, so as to improve the understanding and treatment ability of clinicians.

  Methods  Clinical data of children with T8-BD who were hospitalized in the First Hospital of Jilin University, Children's Hospital of Fudan University and Peking Union Medical College Hospital from January 2016 to June 2022 were retrospectively collected, and then based on the literature, to summarize their general data, symptoms and signs, auxiliary examination results, and treatment and prognosis.

  Results  A total of 6 children with T8-BD hospitalized in the First Hospital of Jilin University, Children's Hospital of Fudan University and Peking Union Medical College Hospital and 13 children with T8-BD recorded in 10 literature reports were included. Among the 19 children with T8-BD, there were 4 males (21.1%) and 15 females (78.9%). The median age of onset was 8 years (range: 0-16 years). The main clinical manifestations were oral ulcer (94.7%), vulvar ulcer (57.9%) and fever (57.9%, including 4 cases with periodic fever-like manifestations). There were 14 cases (73.7%) of malignant hematologic diseases, 9 cases (47.4%) of digestive tract lesions, 7 cases (36.8%) of skin lesions, and 1 case (5.3%) of cerebrospinal fluid pressure elevation. There were 7 cases (36.8%) of abnormal development, including 5 cases of developmental delay, 3 cases of deep folds, 3 cases of joint deformity, 1 case of special facial appearance, 1 case of intellectual impairment, and 1 case of agenesis of corpus callosum. Auxiliary examination showed hemocytopenia in 11 cases (57.9%); C-reactive protein increase in 11 cases (57.9%), and erythrocyte sedimentation rate increase in 9 cases (47.4%). In terms of treatment, 11 cases (57.9%) were treated with glucocorticoid, 9 cases (47.4%) with traditional immunosuppressant, 6 cases (31.6%) with biological agents, 6 cases (31.6%) with hematopoietic stem cell transplantation and 3 cases (15.8%) with chemical agents. In terms of prognosis, 4 cases (21.1%) died, all of which were complicated with hematologic malignancies.

  Conclusions  The common clinical symptoms of T8-BD are oral ulcers, vulvar ulcers and fever, which can be combined with digestive tract lesions, skin lesions, hematologic malignancies and developmental abnormalities. However, some children are accompanied by other atypical manifestations at the onset of the disease, to which clinicians should pay attention to identify. Overall, the prognosis of children with T8-BD is reasonable, but patients with hematologic malignancies have poor response to immunosuppressive therapy and increased risk of death.