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Published on: March 8, 2015
Incontinentia pigmenti
Ali Jabbari1, Jonathan Ralston, Julie V Schaffer
1Department of Dermatology, New York University, New York, NY, USA.
Insights
Incontinentia pigmenti is a genetic skin disorder affecting multiple organs. Early diagnosis in infants, recognizing skin lesions and blood counts, is crucial for preventing vision loss.
Area of Science:
- Dermatology
- Genetics
- Pediatrics
Background:
- Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis.
- It affects the skin, teeth, eyes, and central nervous system.
Observation:
- A case of an infant girl with IP is presented.
- Cutaneous findings progressed through vesicular, verrucous, and hyperpigmented stages within the first year.
- Neonatal presentation included linear vesicular lesions, peripheral eosinophilia, and leukocytosis.
Findings:
- The clinical presentation and laboratory findings can mimic infectious etiologies.
- Early recognition of characteristic skin lesions and bloodwork aids in diagnosis.
Implications:
- Prompt diagnosis of Incontinentia pigmenti enables timely ophthalmologic evaluation.
- Early intervention can help prevent severe visual sequelae in affected infants.
Abstract:
Incontinentia pigmenti is an X-linked dominant genodermatosis that can affect the teeth, eyes, and central nervous system as well as the skin. We describe an infant girl with characteristic cutaneous findings, which progressed through the vesicular, verrucous, and hyperpigmented stages in the first year of life. During the neonatal period, recognition of the linear distribution of vesicular lesions and associated peripheral eosinophilia as well as leukocytosis (which might suggest an infectious etiology) can help to establish the diagnosis. This enables early initiation of ophthalmologic care, which can help to prevent visual sequelae.
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