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.