Clinical consternation occurs when characteristic vesiculobullous eruptions of incontinentia pigmenti (IP) appear neonatally. These distressing lesions almost never lead to serious long-term morbidity, although they often result in time-consuming, expensive, and typically fruitless diagnostic evaluations in an attempt to diagnose other diseases.
Blindness and psychomotor retardation, on the other hand, constitute the most serious acute and chronic complications of this disease1- 24 (Figure 1). When they occur, they are tragedies for the patients as well as for their families. Ideally, therefore, these complications should be sought assiduously and, if possible, treated quickly, as soon as the diagnosis of IP is established. Because babies obviously cannot complain of reduced vision or of impaired cerebral function, a high index of suspicion by attending clinicians is warranted. Urgent consultations with ophthalmic and neurologic subspecialists (specifically, retinologists and pediatric neurologists) are often needed, both for diagnosis and treatment. Fortunately, not all patients have blinding or retarding symptoms owing to the variable clinical expression of this disease.
A, Infant with incontinentia pigmenti, showing marked pallor of optic nerve head (optic atrophy). There was profound and permanent loss of vision. B, An infant aged 12 days with incontinentia pigmenti and occlusion of central retinal artery, demonstrating macular cherry-red spot (black dot), cotton-wool ischemic infarcts (arrowheads), numerous occluded retinal blood vessels (solid arrow), and zones of nonperfusion (open arrow). Vision was permanently reduced to perception of gross movements. C, An infant aged 20 months with incontinentia pigmenti and extensive zones of retinal nonperfusion (black dots), hard exudates, and a large arteriovenous shunt (arrowhead). There was severe and permanent loss of vision. D, A child aged 27 months with incontinentia pigmenti and inoperable tractional retinal detachment of the macula. There was profound and permanent loss of vision.
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