| Brown KE, Goldstein
SM, Douglas RS, Katowitz JA.
Department of Ophthalmology, University of Illinois-Chicago,
Chicago, IL, USA.
The neurocutaneous pattern syndromes are a group of disorders
characterized by
congenital abnormalities involving both the skin and the nervous
system for
which no identifiable cause has been isolated.(1) Ophthalmologic
manifestations
of these syndromes are common. These rare syndromes often
have overlapping
ophthalmic and systemic findings. Examples include encephalocraniocutaneous
lipomatosis (ECCL), oculocerebrocutaneous syndrome (OCC),
and linear nevus
sebaceous syndrome (LNS). Clarifying the diagnostic criteria
for these syndromes
is a worthy goal because it will help elucidate the phenotypic
spectrum of these
poorly understood diseases as well as possibly facilitate
genetic counseling. In
this short report, a case of ECCL is used to illustrate the
clinical manifestations of neurocutaneous syndromes.
J AAPOS. 2003 Apr;7(2):148-9.
Back to Publications
|
