婴儿Blau線合征1例
China Medical Abstracts of Dermatology(2022)
Abstract
患儿女,7个月,4个月前无明显诱因全身出现皮疹,反复发热、咳喘2个月.体检:未扪及浅表淋巴结肿大;角膜、结膜未见阳性体征;全身大小关节未见肿胀及畸形.皮肤科检查:躯干、四肢、双侧手足背见均匀分布的针尖及粟粒大淡灰褐色斑点及扁平小丘疹,未见脱屑.关节CT平扫:未见异常.眼底检查:未见异常.皮损组织病理:表皮未见异常,真皮可见结节性病变,病变的结节由组织细胞、类上皮细胞、淋巴细胞、朗格罕巨细胞组成.真皮类上皮细胞肉芽肿样改变,未见凝固性坏死.基因分析显示:患儿NOD2基因一杂合突变(c.1759C>T,p.Arg587Cys),导致第587号氨基酸由精氨酸变异为半胱氨酸,其父母相同致病位点并未检测出异常改变,故患儿NOD2基因表现为错义突变,为自发突变.诊断:Blau综合征,为常染色体显性遗传性疾病.治疗:经小剂量激素治疗后,患儿发热的症状有缓解,皮疹无明显改善.
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