AUTHOR=Xie Lingfeng , Zhu Yong , He Liya , Yu Bing , Wang Jiajue , Fan Ruiqiang , Mo Xiumei , Zhang Yu , Xie Ting 

TITLE=Case report: A case of incontinentia pigmenti

JOURNAL=Frontiers in Medicine

VOLUME=Volume 10 - 2023

YEAR=2023

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2023.1164394

DOI=10.3389/fmed.2023.1164394

ISSN=2296-858X

ABSTRACT=Incontinentia pigmenti (IP) is a rare neuroectodermal dysplasia caused by mutations in the IKBKG gene. We present a case of a 4-month-old female infant with erythematous blistered skin lesions on the trunk and extremities. Histopathological examination of the blisters revealed an eosinophilic infiltrate. Further investigation revealed that her mother had three unexplained miscarriages and two normal uncomplicated pregnancies resulting in the birth of two male infants. We performed a comprehensive genetic evaluation to rule out interference of pseudogene IKBKGP, and the infant was ultimately diagnosed with IP. During the subsequent 2-year follow-up, we observed a significant amelioration of her dermatological symptoms, with no evidence of recurrence, and there were no other associated symptoms in the hair, nails, oral mucosa, eyes, or central nervous system.