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Saturday, February 5, 2011

INCONTINENTIA PIGMENTI ( Bloch-Sulzberger disease)

Incontinentia pigmenti, an X-linked dominant disorder, lethal to the males, is characterized by multi system involvement. CNS manifestations include seizures, developmental delay, microcephaly, spasticity and paralysis.
In addition, there are cutaneous lesions, alopecia, dystrophied nails, skeletal defects, dental anomalies (delayed eruption, conical teeth, partial anodontia), squint, optic nerve atrophy, cataracts, and retrolenticular masses. One-third patients may end up with blindness. Investigations and management are dictated by the noncutaneous abnormalities rather than skin lesions which are benign and show regression during adulthood.

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