Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature

J S Bamforth; V M Riccardi; P Thisen; D Chitayat; J M Friedman; J Caruthers; J G Hall

Encephalocraniocutaneous lipomatosis. Report of two cases and a review of the literature

Neurofibromatosis. 1989;2(3):166-73.

Authors

J S Bamforth¹, V M Riccardi, P Thisen, D Chitayat, J M Friedman, J Caruthers, J G Hall

Affiliation

¹ Department of Medical Genetics, University of British Columbia, Grace Hospital, Vancouver, Canada.

PMID: 2699567

Abstract

We describe 2 patients with unilateral facial and cerebral malformations consistent with encephalocraniocutaneous lipomatosis. The characteristic facial appearance seems to develop with age, possibly as a consequence of increased intracranial pressure. However, the clinical data suggest that this condition arises as a result of a disruption of cephalic neural crest and anterior neural tube.

Publication types

Case Reports
Review

MeSH terms

Adolescent
Brain Neoplasms / diagnostic imaging
Brain Neoplasms / pathology*
Brain Neoplasms / physiopathology
Child, Preschool
Female
Hamartoma / diagnostic imaging
Hamartoma / pathology*
Hamartoma / physiopathology
Humans
Lipomatosis / diagnostic imaging
Lipomatosis / pathology*
Lipomatosis / physiopathology
Radiography
Skin Neoplasms / diagnostic imaging
Skin Neoplasms / pathology*
Skin Neoplasms / physiopathology