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Encephalocraniocutaneous Lipomatosis
Luke L. Linscott, MD; Gilbert Vézina, MD
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KEY FACTS

  • Terminology

    • Imaging

      • Top Differential Diagnoses

        • Pathology

          • Clinical Issues

            • Diagnostic Checklist

              TERMINOLOGY

              • Abbreviations

                • Encephalocraniocutaneous lipomatosis (ECCL)
              • Synonyms

                • Haberland syndrome, Fishman syndrome
              • Definitions

                • Rare, congenital neurocutaneous syndrome characterized by ipsilateral scalp, eye, and brain abnormalities
                • First described in 1970 by Catherine Haberland

              IMAGING

              • General Features

                • CT Findings

                  • MR Findings

                    • Ultrasonographic Findings

                      • Angiographic Findings

                        • Imaging Recommendations

                          DIFFERENTIAL DIAGNOSIS

                            PATHOLOGY

                            • General Features

                              • Gross Pathologic & Surgical Features

                                • Microscopic Features

                                  CLINICAL ISSUES

                                  • Presentation

                                    • Demographics

                                      • Natural History & Prognosis

                                        • Treatment

                                          DIAGNOSTIC CHECKLIST

                                          • Image Interpretation Pearls

                                            Selected References

                                            1. McDonell LM et al: Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension. Am J Med Genet A. 176(11):2523-7, 2018
                                            2. Siddiqui S et al: Encephalocraniocutaneous lipomatosis: a case report with review of literature. Neuroradiol J. 30(6):578-82, 2017
                                            3. Bennett JT et al: Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis. Am J Hum Genet. 98(3):579-87, 2016
                                            4. Bieser S et al: Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCL. Am J Med Genet A. 167(4):878-81, 2015
                                            5. Lin AW et al: Characteristic imaging findings in encephalocraniocutaneous lipomatosis. Neurology. 84(13):1384-5, 2015
                                            6. Michael GA et al: Neuroimaging findings in encephalocraniocutaneous lipomatosis. Pediatr Neurol. 53(5):462-3, 2015
                                            7. Bauld H et al: Encephalocraniocutaneous lipomatosis: a case with long term follow-up. Can J Neurol Sci. 41(1):106-8, 2014
                                            8. Chandravanshi SL: Encephalocraniocutaneous lipomatosis: a case report and review of the literature. Indian J Ophthalmol. 62(5):622-7, 2014
                                            9. Chiang CC et al: Clinical manifestation and neurosurgical intervention of encephalocraniocutaneous lipomatosis--a case report and review of the literature. Childs Nerv Syst. 30(1):13-7, 2014
                                            10. Jain P et al: Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis. J Child Neurol. 29(6):846-9, 2013
                                            11. Lee RK et al: Encephalocraniocutaneous lipomatosis: a rare case with development of diffuse leptomeningeal lipomatosis during childhood. Pediatr Radiol. 42(1):129-33, 2012
                                            12. Prontera P et al: Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML). Am J Med Genet A. 149A(3):543-5, 2009
                                            13. Gokhale NR et al: Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome. Indian J Dermatol Venereol Leprol. 73(1):40-2, 2007
                                            14. Moog U et al: Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 143A(24):2963-72, 2007
                                            15. Hunter AG: Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes? Am J Med Genet A. 140(7):709-26, 2006
                                            Related Anatomy
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                                            Related Differential Diagnoses
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                                            References
                                            Tables

                                            Tables

                                            KEY FACTS

                                            • Terminology

                                              • Imaging

                                                • Top Differential Diagnoses

                                                  • Pathology

                                                    • Clinical Issues

                                                      • Diagnostic Checklist

                                                        TERMINOLOGY

                                                        • Abbreviations

                                                          • Encephalocraniocutaneous lipomatosis (ECCL)
                                                        • Synonyms

                                                          • Haberland syndrome, Fishman syndrome
                                                        • Definitions

                                                          • Rare, congenital neurocutaneous syndrome characterized by ipsilateral scalp, eye, and brain abnormalities
                                                          • First described in 1970 by Catherine Haberland

                                                        IMAGING

                                                        • General Features

                                                          • CT Findings

                                                            • MR Findings

                                                              • Ultrasonographic Findings

                                                                • Angiographic Findings

                                                                  • Imaging Recommendations

                                                                    DIFFERENTIAL DIAGNOSIS

                                                                      PATHOLOGY

                                                                      • General Features

                                                                        • Gross Pathologic & Surgical Features

                                                                          • Microscopic Features

                                                                            CLINICAL ISSUES

                                                                            • Presentation

                                                                              • Demographics

                                                                                • Natural History & Prognosis

                                                                                  • Treatment

                                                                                    DIAGNOSTIC CHECKLIST

                                                                                    • Image Interpretation Pearls

                                                                                      Selected References

                                                                                      1. McDonell LM et al: Mosaic KRAS mutation in a patient with encephalocraniocutaneous lipomatosis and renovascular hypertension. Am J Med Genet A. 176(11):2523-7, 2018
                                                                                      2. Siddiqui S et al: Encephalocraniocutaneous lipomatosis: a case report with review of literature. Neuroradiol J. 30(6):578-82, 2017
                                                                                      3. Bennett JT et al: Mosaic activating mutations in FGFR1 cause encephalocraniocutaneous lipomatosis. Am J Hum Genet. 98(3):579-87, 2016
                                                                                      4. Bieser S et al: Grade II pilocytic astrocytoma in a 3-month-old patient with encephalocraniocutaneous lipomatosis (ECCL): case report and literature review of low grade gliomas in ECCL. Am J Med Genet A. 167(4):878-81, 2015
                                                                                      5. Lin AW et al: Characteristic imaging findings in encephalocraniocutaneous lipomatosis. Neurology. 84(13):1384-5, 2015
                                                                                      6. Michael GA et al: Neuroimaging findings in encephalocraniocutaneous lipomatosis. Pediatr Neurol. 53(5):462-3, 2015
                                                                                      7. Bauld H et al: Encephalocraniocutaneous lipomatosis: a case with long term follow-up. Can J Neurol Sci. 41(1):106-8, 2014
                                                                                      8. Chandravanshi SL: Encephalocraniocutaneous lipomatosis: a case report and review of the literature. Indian J Ophthalmol. 62(5):622-7, 2014
                                                                                      9. Chiang CC et al: Clinical manifestation and neurosurgical intervention of encephalocraniocutaneous lipomatosis--a case report and review of the literature. Childs Nerv Syst. 30(1):13-7, 2014
                                                                                      10. Jain P et al: Encephalocraniocutaneous lipomatosis with neurocutaneous melanosis. J Child Neurol. 29(6):846-9, 2013
                                                                                      11. Lee RK et al: Encephalocraniocutaneous lipomatosis: a rare case with development of diffuse leptomeningeal lipomatosis during childhood. Pediatr Radiol. 42(1):129-33, 2012
                                                                                      12. Prontera P et al: Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML). Am J Med Genet A. 149A(3):543-5, 2009
                                                                                      13. Gokhale NR et al: Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome. Indian J Dermatol Venereol Leprol. 73(1):40-2, 2007
                                                                                      14. Moog U et al: Brain anomalies in encephalocraniocutaneous lipomatosis. Am J Med Genet A. 143A(24):2963-72, 2007
                                                                                      15. Hunter AG: Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: blind men and an elephant or separate syndromes? Am J Med Genet A. 140(7):709-26, 2006