January 6, 2014
A 4-month-old girl with a seizure. She had developed a similar episode 2 days before. She has eosinophilia with a history of rash on the trunk 2 weeks after birth.
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
