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

American Journal of Medical Genetics. Part a
Luciana Nogueira DelfinoDaniela Longo

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.

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Citations

Aug 27, 2013·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Chia-Chun ChiangTai-Tong Wong
Mar 3, 2021·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Zehra Filiz Karaman, Şerife Ebru Özüdoğru
Jun 1, 2021·American Journal of Medical Genetics. Part a·Caitlin A ChangKim M Keppler-Noreuil

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