title: Encephalocraniocutaneous lipomatosis (ECCL): neuroradiological findings in three patients and a new association with fibrous dysplasia.
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.
authors.affiliation: Department of Imaging, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy. delfino.luciana@gmail.com
authors.forename: Luciana Nogueira
authors.initials: LN
authors.lastname: Delfino
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Fariello
authors.forename: Carlo Cosimo
authors.initials: CC
authors.lastname: Quattrocchi
authors.forename: Costanza
authors.initials: C
authors.lastname: Aiello
authors.forename: Laura
authors.initials: L
authors.lastname: Menchini
authors.forename: Rita
authors.initials: R
authors.lastname: Devito
authors.forename: Mario
authors.initials: M
authors.lastname: Zama
authors.forename: Dianella
authors.initials: D
authors.lastname: Claps
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.forename: Daniela
authors.initials: D
authors.lastname: Longo
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005123:Eye / Q000000981:diagnostic imaging / Q000473:pathology; D005128:Eye Diseases / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000473:pathology; D005357:Fibrous Dysplasia of Bone / Q000150:complications* / Q000000981:diagnostic imaging*; D006801:Humans; D008068:Lipomatosis / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000473:pathology; D010641:Phenotype; D012867:Skin / Q000473:pathology; D014057:Tomography, X-Ray Computed