Incontinentia pigmenti in a female infant with somatic mosaicism due to the <i>IKBKG</i> variant

Shibata, Keiko; Kunisada, Makoto; Miyai, Shunsuke; Kawamori, Shigeki; Kurahashi, Hiroki; Nishigori, Chikako

doi:10.1111/1346-8138.16141

Cited by 1 publication

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References 5 publications

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“…In males, mutations in IKBKG are typically fatal, and thus males with IP only present in rare cases, such as in Klinefelter syndrome or in cases of mosaicism [8 ▪ ]. Females who present with somatic mosaicism can have a much milder syndrome; in these patients, skin biopsy and genetic testing can help secure the diagnosis [10 ▪ ].…”

Section: Pathophysiologymentioning

confidence: 99%

Incontinentia pigmenti and the eye

Islam

Khurshid

2022

Current Opinion in Ophthalmology

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Purpose of Review:Incontinentia pigmenti (IP) is a rare X-linked dominant phakomatosis that predominately presents with dermatologic manifestations but can also cause central nervous system and ocular abnormalities. Awareness of the ocular complications of IP is crucial to identify ocular abnormalities early and prevent permanent vision loss.Recent Findings:There have been significant recent advances in ocular diagnostic imaging in IP. Optical coherence tomography (OCT) has helped characterize outer plexiform layer abnormalities in the macula, which can help explain central vision loss in IP patients. OCT angiography (OCT-A) also identifies macular vascular changes that induce these foveal structural abnormalities and may supplement fluorescein angiography, the current standard of care to identify peripheral retinal ischemia and neovascularization for infants with IP. Additionally, recent studies have presented excellent anatomic outcomes years after laser photocoagulation to ischemic retina. Early data indicates that antivascular endothelial growth factor therapy can induce retinal revascularization, but runs the risk of late recurrent neovascularization and requires long-term monitoring.Summary:Ophthalmic imaging is evolving in the evaluation of IP and is increasingly guiding treatment modalities. A particular focus on the ocular manifestations of IP has been the ideal treatment for retinopathy in this disorder.

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Section: Pathophysiologymentioning

confidence: 99%