The hallmark of incontinentia
pigmenti (Bloch-Sulzberger syndrome) in the neonatal period is the presence
of an erythematous vesicular rash. The rash may be present at birth or
may develop shortly after, usually during the first 2 weeks of life. The
vesicles usually form a linear pattern following the Blaschko lines but
isolated lesions with no particular pattern may also occur (Figure 298.1).
The evolutive changes that characterize incontinentia pigmenti (verrucous
eruption and hypopigmented lesions) do not usually occur in the neonatal
period. The most important entity to differentiate from incontinentia
pigmenti is herpes simplex encephalitis. They both may produce seizures
and have skin vesicles. The distinction is based on the location and cytology
of the vesicles. The vesicles in herpes simplex infection tend to occur
on the scalp or presenting body part (sites of trauma) and the scrapings
from the base of the vesicles show multinucleated giant cells with intranuclear
inclusion (Sank smear). The vesicles in incontinentia pigmenti tend to
occur on the limbs or lateral trunk, and the scrapings from the base of
the vesicles show large numbers of eosinophils. Neonates with incontinentia
pigmenti have leukocytosis and a high blood eosinophils count.
Figure 298.1.—
Vesicular rash. Typical cutaneous manifestation of incontinentia pigmenti
in neonates.
Neonates
with incontinentia pigmenti should undergo ophthalmological evaluation
for retinal dysplasia, uveitis, keratitis, cataracts, and retrolental
dysplasia. Incontinentia pigmenti occurs in females. Incontinentia pigmenti
is transmitted as an X-linked trait and is lethal in homozygous males.
The gene loci are Xp11 (sporadic) and Xp28 (familial). Prenatal diagnosis
is possible by DNA analysis. Males born with lesions of incontinentia
pigmenti should have chromosomal studies to determine if an XXY karyotype
is present.  
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