摘要
报告1例新生儿色素失禁症(IP)。采用全外显子组测序(WES)、多重连接探针扩增技术(MLPA)及长片段PCR对患儿进行IKBKG基因检测,并结合文献对IP的遗传机制、诊断及治疗进展进行探讨。患儿女,因出生后发现全身皮疹50 min入院。生后查体发现全身红斑、水疱及结痂性皮损。皮肤科专科示四肢及躯干散在红斑、水疱及色素沉着斑,沿Blaschko线分布。实验室检查示嗜酸性粒细胞比值升高(13.4%)。基因检测发现IKBKG基因4-10号外显子杂合缺失,确诊为新生儿色素失禁症。父母双方均未检测到IKBKG基因外显的缺失突变或重复突变,因此考虑患儿为散发型IP。经皮肤护理及多学科管理,患儿皮损好转出院,随访至6月龄,无皮疹及其他系统并发症出现。
We report a case of neonatal incontinentia pigmenti(IP).Genetic testing of the IKBKG gene was performed using whole-exome sequencing(WES),multiplex ligation-dependent probe amplification(MLPA),and long-range PCR.A literature review was conducted to explore the genetic mechanisms,diagnostic strategies,and recent advances in the treatment of IP.A female neonate was admitted 50 minutes after birth due to generalized skin rashes.Widespread erythema,vesicles,and crusted lesions were observed after birth.Dermatological examination showed scattered erythema,vesicles,and pigmented macules on the extremities and trunk,distributed along the Blaschko’s lines.Laboratory tests indicated an elevated eosinophil ratio(13.4%).Genetic testing identified a heterozygous deletion of exons 4~10 in the IKBKG gene,confirming the diagnosis of neonatal IP.Neither parent carried deletions or duplications in the IKBKG gene,suggesting a sporadic case of IP.Following skin care and multidisciplinary management,the patient’s lesions improved and she was discharged.At 6-month follow-up,no skin rash or systemic complications were observed.
作者
温达强
陆镇奇
万忠和
WEN Daqiang;LU Zhenqi;WAN Zhonghe(Sixth Affiliated Hospital of South China University of Technology,Foshan 528200,China)
出处
《皮肤性病诊疗学杂志》
2025年第8期578-583,共6页
Journal of Diagnosis and Therapy on Dermato-venereology
