Analysis of 8 Cases of Blau Syndrome/Early-onset Sarcoidosis——Clinical Manifestations, Histopathology Features and Gene Mutation Diversity

Yi Zheng; Tao Jia; Cong Yan; Xinyue Zhang; Xueshan DU; Tong Zhou; Xiangjin Song; Songmei Geng

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Analysis of 8 Cases of Blau Syndrome/Early-onset Sarcoidosis——Clinical Manifestations, Histopathology Features and Gene Mutation Diversity

VernacularTitle:8例Blau综合征/早发型结节病临床表现、病理特征及基因突变的多样性分析
Author: Yi ZHENG ¹ ; Tao JIA ¹ ; Cong YAN ¹ ; Xinyue ZHANG ¹ ; Xueshan DU ¹ ; Tong ZHOU ¹ ; Xiangjin SONG ¹ ; Songmei GENG ¹
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1. Department of Dermatology, the Second Hospital Affiliated to Xi′an Jiaotong University, Xi′an 710004, China.
Publication Type:Journal Article
Keywords: Blau syndrome; early-onset sarcoidosis; clinical manifestations; histopathology features; gene mutation diversity
From: JOURNAL OF RARE DISEASES 2023;2(2):170-177
CountryChina
Language:Chinese
Abstract: Objective To summarize the clinical manifestations, pathological features and gene mutation diversity of Blau syndrome/early-onset sarcoidosis. Methods We collected general data, clinical manifestations, and auxiliary examination results from 8 patients who were diagnosed of Blau syndrome/early-onset sarcoidosis and treated in our hospital from January 2011 to December 2022, and then summarized and analyzed their characteristics and diversity. Results Among the 8 patients, 4 were males and 4 were females. The onset age was 3 to 8 months old. Rash was the first symptom in 7 patients(87.5%). 6 patients(75.0%) had papules and erythema.3 cases(37.5%) had arthritis. 2 cases(25.0%) had uveitis and other eye inflammation. 4 cases (50.0%) also showed intermittent fever. 3 cases (37.5%) showed symptoms in nerve and respiratory system, and hypertension respectively. The skin histopathology of 8 patients showed non-caseous granuloma formation. In laboratory detection, CRP and TNF-α were significantly increased before treatment, while IL-6, IL-8, TNF-α and IL-2 receptor(IL-2R) were significantly decreased in 5 patients after glucocorticoid therapy. The results of genetic testing showed that 4 of the 7 patients had p.R334W(c.1000C > T) mutation, 1 had p.H313R(c.938A > G) and p.R471C(c.1411C > T)double mutation, and 1 had p.476_477del (c.1427_1429delcct). Conclusions Blau syndrome/early-onset sarcoidosis has significant features in clinical manifestations, histopathology and gene mutation, but it also has diversity.