Document Detail


Encephalocraniocutaneous lipomatosis (ECCL): Neuroradiological findings in three patients and a new association with fibrous dysplasia.
MedLine Citation:
PMID:  21626669     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous syndrome characterized by involvement of tissues of ectodermal and mesodermal origin such as skin, eye, adipose tissue, and brain. Since 1970, when Haberland and Perou had described the first patient, 54 cases of ECCL have been reported in literature. We report on three new boys with ECCL. In addition to their typical dermal, ocular and central nervous system anomalies, one of them had a spheno-ethmoidal osseous lesion. Histopathological evaluation confirmed the benign nature of the lesion and was consistent with fibrous dysplasia. The aim of our study is to review clinical records and brain imaging studies of these three new patients with ECCL and compare these findings with those reported in literature to better define the phenotypic spectrum and radiological findings in ECCL. © 2011 Wiley-Liss, Inc.
Authors:
Luciana Nogueira Delfino; Giuseppe Fariello; Carlo Cosimo Quattrocchi; Costanza Aiello; Laura Menchini; Rita Devito; Mario Zama; Dianella Claps; Federico Vigevano; Daniela Longo
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2011-5-27
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  -     ISSN:  1552-4833     ISO Abbreviation:  -     Publication Date:  2011 May 
Date Detail:
Created Date:  2011-5-31     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2011 Wiley-Liss, Inc.
Affiliation:
Department of Imaging, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy. delfino.luciana@gmail.com.
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