title: Encephalocraniocutaneous lipomatosis accompanied by the formation of bone cysts: Harboring clues to pathogenesis?
abstract: Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies, mainly choristomas; by skin lesions consisting of hairless fatty tissue nevi (nevus psiloliparus), focal dermal hypoplasia, alopecia, and periocular skin tags; and by CNS anomalies, including intracranial and spinal lipomas and often mental retardation and seizures. Here, we report on three boys with ECCL with typical abnormalities of the eyes, skin and brain and, in addition, coarctation of the aorta. All three children developed multiple cystic bone lesions, which progressively spread throughout the skeleton in Patient 1 and was shown histologically to be non-ossifying fibromas in Patient 2. We hypothesize that ECCL may be caused by mosaicism for a mutated gene involved in benign mesenchymal tumors and in vasculogenesis.
authors.affiliation: Department of Clinical Genetics, University Hospital Maastricht, Maastricht, The Netherlands. ute.moog@med.uni-heidelberg.de
authors.forename: Ute
authors.initials: U
authors.lastname: Moog
authors.forename: Filip
authors.initials: F
authors.lastname: Roelens
authors.forename: Geert R
authors.initials: GR
authors.lastname: Mortier
authors.forename: Han
authors.initials: H
authors.lastname: Sijstermans
authors.forename: Mary
authors.initials: M
authors.lastname: Kelly
authors.forename: Gerald F
authors.initials: GF
authors.lastname: Cox
authors.forename: Caroline D
authors.initials: CD
authors.lastname: Robson
authors.forename: Virginia E
authors.initials: VE
authors.lastname: Kimonis
mesh_terms: D000015:Abnormalities, Multiple; D001847:Bone Diseases / Q000175:diagnosis / Q000473:pathology*; D001842:Bone and Bones / Q000473:pathology*; D002493:Central Nervous System Diseases / Q000175:diagnosis; D002648:Child; D002675:Child, Preschool; D003560:Cysts; D005128:Eye Diseases / Q000175:diagnosis*; D017809:Fatal Outcome; D006801:Humans; D008068:Lipomatosis / Q000175:diagnosis*; D008297:Male; D008648:Mesoderm / Q000378:metabolism; D009030:Mosaicism; D020752:Neurocutaneous Syndromes / Q000175:diagnosis*; D012871:Skin Diseases / Q000175:diagnosis*