Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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January 6, 2014
Incontinentia Pigmenti (IP)
- Also known as Bloch-Sulzberger syndrome, IP is a rare X-linked dominant phacomatosis that may present with neurologic symptoms (30–50% of cases), in addition to a characteristic vesicular rash within the first days of life, and retinal involvement.
- Clinical Presentation: Pathognomonic skin lesions typically erupt in four stages: vesicular, verrucous, hyperpigmented, and atrophic/hypopigmented. It often manifests in the neonatal period with seizures. Retinal vascular anomalies lead to retinal fibrosis.
- Key Diagnostic Features: MR imaging findings include periventricular leukomalacia, hypoplasia of the corpus callosum, asymmetrical ventricular enlargement and multiple cerebral infarctions, which, histopathologically, show perivascular accumulation of lymphocytes, histiocytes, and eosinophils.
- DDx: Herpes simplex virus, streptococcal bullous impetigo, hypomelanosis of Ito
- Rx: No specific treatment is available. Neurologic, ophtalmologic, and dermatologic care is recommended
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