title: Encephalocraniocutaneous Lipomatosis Without Ocular Malformations.
abstract: Encephalocraniocutaneous lipomatosis is a rare congenital neurocutaneous syndrome resulting from ectomesodermal dysgenesis and characterized by unique hairless scalp lesions in the form of nevus psiloliparus, ipsilateral ocular malformations, and central nervous system anomalies. According to the 2009 diagnostic criteria proposed by Moog et al., ocular abnormalities are supposed to be the most consistent feature of encephalocraniocutaneous lipomatosis.
  
  
  
  We describe an 18-year-old girl with most of the central nervous system manifestations of encephalocraniocutaneous lipomatosis, major skin alterations including nevus psiloliparus, but no ocular involvement.
  
  
  
  Our patient suggests more variability in clinical features and a more complex genetic/embryonic etiology of encephalocraniocutaneous lipomatosis.
authors.affiliation: Department of Pediatrics, University Hospital Center, Rijeka, Croatia. Electronic address: jelaradi@yahoo.com.
authors.forename: Jelena
authors.initials: J
authors.lastname: Radić Nišević
authors.affiliation: Department of Pediatrics, University Hospital Center, Rijeka, Croatia.
authors.forename: Igor
authors.initials: I
authors.lastname: Prpić
authors.affiliation: Department of Radiology, University Hospital Center, Rijeka, Croatia.
authors.forename: Ronald
authors.initials: R
authors.lastname: Antulov
authors.affiliation: Department of Pediatrics, University Hospital Center, Rijeka, Croatia.
authors.forename: Antun
authors.initials: A
authors.lastname: Sasso
authors.affiliation: Department of Radiology, University Hospital Center, Rijeka, Croatia.
authors.forename: Izidora
authors.initials: I
authors.lastname: Holjar Erlić
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D005123:Eye / Q000473:pathology; D005128:Eye Diseases / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D005260:Female; D006801:Humans; D008068:Lipomatosis / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D020752:Neurocutaneous Syndromes / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D012867:Skin / Q000473:pathology
keywords: diagnostic criteria; differential diagnosis; encephalocraniocutaneous lipomatosis; neurocutaneous syndrome