title: Encephalocraniocutaneous lipomatosis.
abstract: Encephalocraniocutaneous lipomatosis (ECCL) is an unusual condition marked by characteristic dermatologic and neurologic findings presenting in a mosaic fashion. These are now being found to be due to specific genetic mutations. Traditionally, the diagnostic features include ocular dermoids, scalp changes, and spinal lipomas. While there are other similar diagnostic considerations, ECCL, is sufficiently distinct clinically to allow differentiation. Such information is of use when considering pathogenesis and in counseling. Consideration of possible associated clinical findings is key for correct clinical assessment and management. The condition highlights the need for a collaborative approach to diagnosis and management. Dermatology, ophthalmology, genetics, neurology, and neurosurgery can be engaged in the care of such patients.
authors.affiliation: Dell Children's Medical Center, Austin, TX, USA; Dell Medical School, University of Texas, Austin, TX, USA; Baylor College of Medicine, Houston, TX, USA. Electronic address: mllevy@seton.org.
authors.forename: Moise L
authors.initials: ML
authors.lastname: Levy
authors.affiliation: New Braunfels Pediatric Associates, New Braunfels, TX, USA.
authors.forename: Catherine
authors.initials: C
authors.lastname: Massey
mesh_terms: D003937:Diagnosis, Differential; D019468:Disease Management; D005128:Eye Diseases / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008068:Lipomatosis / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D020752:Neurocutaneous Syndromes / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D012867:Skin / Q000473:pathology
keywords: Encephalocraniocutaneous lipomatosis (ECCL); dermatologic; mosaic; ocular dermoid; spinal lipoma