Case report: A case of incontinentia pigmenti

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 vesicular skin lesions on the trunk and extremities. Histopathologic 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 the interference of pseudogene IKBKGP, and the infant was finally diagnosed with IP. During the subsequent 2-year follow-up, we observed a significant improvement in her dermatologic symptoms, with no evidence of recurrence, and there were no other associated symptoms in the hair, nails, oral mucosa, eyes, or central nervous system.

Novel IKBKG gene mutations in incontinentia pigmenti: report of two cases

“…NF-κB plays an important role in regulating cell proliferation, apoptosis, and inflammation. When IKBKG is not correctly expressed, cells become sensitive to apoptotic signals, leading to the development of various inflammatory responses that are particularly active in ectodermal cells ( 6 ).…”

“…At present, there are few relevant studies on the causes of IP recurrence, and it has been reported that some IKBKG -deficient keratinocytes can survive through escape; however, residual IKBKG -deficient keratinocytes that manage to escape and survive the elimination process can undergo second episodes of the first stage of IP owing to the reoccurrence of keratinocyte hyperproliferation and subsequent inflammatory reactions ( 6 , 7 ). The vesicular phase usually disappears within four to 6 months ( 2 ).…”

“…There are many molecular diagnostic methods, the most common of which are whole-exon sequencing, MLPA detection, simple PCR, and Sanger sequencing ( 7 ). Owing to the existence of the pseudogene IKBKGP1 , multiple methods are sometimes used for genetic testing ( 6 ). No mutation was detected in whole exome sequencing, and MLPA detection and Sanger sequencing were performed to identify the mutation.…”