Incontinentia Pigmenti In a Female Infant: A Case Report

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Rebecca Lapides
Hannah Porter
Deborah Cook
Keith Morley


Incontinentia pigmenti, bloch-sulzberger syndrome, NEMO gene, pediatric rash


Incontinentia pigmenti (IP) is an X-linked disorder characterized by a variety of findings that affect different systems, including cutaneous, ophthalmologic, neurologic, and dental. The cutaneous findings occur in 4 consecutive stages, generally referred to as vesicular, verrucous, hyperpigmented, and atrophic. The first stage is often observed in infancy, and this may be the first indication of IP in an infant. Early diagnosis is critical so that interventions can be implemented as soon as possible to monitor for complications and mitigate the effects of IP given the potential for multisystem involvement. Here, we describe a case of IP that was diagnosed in a female infant with no prior family history of IP. Prompt diagnosis and family counseling is critical, as early interventions can help optimize patients’ quality of life and genetic testing may help families make informed future family planning decisions. 


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