Encephalocraniocutaneous lipomatosis: a neurocutaneous syndrome.
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.
Department of Ophthalmology, University of Illinois-Chicago, Chicago, IL, USA.
Kim E
KE
Brown
Scott M
SM
Goldstein
Raymond S
RS
Douglas
James A
JA
Katowitz
D001284:Atrophy; D001927:Brain Diseases / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005142:Eyelid Neoplasms / Q000473:pathology*; D005260:Female; D006258:Head and Neck Neoplasms / Q000473:pathology*; D006801:Humans; D007223:Infant; D008068:Lipomatosis / Q000473:pathology*; D020752:Neurocutaneous Syndromes / Q000175:diagnosis* / Q000473:pathology; D012535:Scalp; D012878:Skin Neoplasms / Q000473:pathology*