A case of neonatal incontinentia pigmenti with IKBKG gene mutation and literature review
WEN Daqiang
LU Zhenqi
WAN Zhonghe
Abstract：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 fe-male neonate was admitted 50 minutes after birth due to generalized skin rashes.Widespread ery-thema,vesicles,and crusted lesions were observed after birth.Dermatological examination showed scattered erythema,vesicles,and pigmented macules on the extremities and trunk,distributed a-long the Blaschko's lines.Laboratory tests indicated an elevated eosinophil ratio(13.4％).Ge-netic 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,sug-gesting 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 com-plications were observed.
Keywords：incontinentia pigmentiIKBKG geneneonatewhole-exome sequencinggene mutation
Publication Date：2025-08-28
Online Publishing Date：2025-09-23(First online date of this platform, not the publication date of the document)
Pages：6( 578-583 )