Encephalocraniocutaneous lipomatosis (ECCL): Neuroradiological findings in three patients and a new association with fibrous dysplasia

Luciana Nogueira Delfino, Giuseppe Fariello, Carlo Cosimo Quattrocchi, Costanza Aiello, Laura Menchini, Rita Devito, Mario Zama, Dianella Claps, Federico Vigevano, Daniela Longo

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)1690-1696
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume155
Issue number7
DOIs
Publication statusPublished - Jul 2011

Keywords

  • Encephalocraniocutaneous lipomatosis
  • Fibrous dysplasia
  • Intracranial lipomas
  • Leptomeningeal angiomatosis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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