婴儿Blau综合征1例

Infantile Blau Syndrome:A Case Report

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。

A 7-month-old female child,presented with rashes all over the body four months ago,repeated fever,cough and asthma for two months”with no obvious reasons.Physical examination showed no palpable superficial lymph node enlargement.No positive signs were found in the cornea and conjunctiva.There was no swelling and deformity of the joints of the whole body.Dermatological examination:the trunk,limbs,and dorsum of both hands and feet were evenly distributed with needle tips,large miliary gray-brown spots and flat small papules,and no desquamation was found.Joint CT scan had no abnormality.Fundus examination had no abnormality.Pathological biopsy of skin lesions:no abnormality was found in the epidermis,nodular lesions were seen in the dermis,and the nodules of the lesions were composed of histiocytes,epithelial-like cells,lymphocytes,and Langerhans giant cells.Pathological manifestations were granuloma-like changes of dermal epithelial cells without coagulation necrosis.Genetic analysis showed that the child had a heterozygous mutation in NOD2 gene(c.1759 C>T,p.Arg587 Cys),resulting in the mutation of amino acid 587 from arginine to cysteine,and the same pathogenic locus of his parents was not detected.Abnormal changes occurred,so the NOD2 gene in the child showed a missense mutation,which was a spontaneous mutation.Diagnosis:Blau syndrome,an autosomal dominant disorder.After low-dose hormone therapy,the symptoms of fever in the child were relieved,and the rash did not improve significantly.