CNS Lipoma in Patients with Epidermal Nevus Syndrome

Epidermal nevus syndrome (ENS) is a congenital neurocutaneous disorder characterized by linear nevus with a significant involvement of the nervous, ophthalmological and skeletal systems. Clinical manifestations of ENS include neurological features such as mental retardation, seizures, and movement disorders which are caused by a wide range of neuropathological lesions. We describe three patients with ENS, all of whom had in addition to the characteristic features of ENS intracranial and/or intraspinal lipomas. In one patient the lipoma extended from the thoracal vertebra 8 to the 4th ventricle; in the second patient it was localized on T9, and in the third patient an intracranial lipoma was located at the right cerebellopontine angle. The intraspinal lipomas caused a significant spastic movement disorder. So far, CNS lipomas have not been described as typical neuropathological findings in ENS. The differential diagnosis to encephalocraniocutaneous lipomatosis with the typical finding of CNS lipoma is discussed.

Key words

Epidermal nevus syndrome - CNS lipoma - Neurological symptoms - Encephalocraniocutaneous lipomatosis

References

• 1 Choi B H, Kudo M. Abnormal neuronal migration and gliomatosis cerebri in epidermal nevus syndrome.  Acta Neuropathol. 1981;  53 319-325
• 2 Eghwrudjakpor P O, Kurisaka M, Fukuoka M, Mori K. Intracranial lipomas.  Acta Neurochirurgica. 1991;  110 124-128
• 3 el-Shanti H, Bell W E, Waziri M H. Epidermal nevus syndrome: subgroup with neuronal migration defects.  J Child Neurol. 1992;  7 29-34
• 4 Feuerstein R C, Mims L C. Linear nevus sebaceus with convulsion and mental retardation.  Am J Dis Child. 1962;  104 675-679
• 5 Fishman M A, Chang C SC, Miller J E. Encephalocraniocutaneous lipomatosis.  Pediatrics. 1999;  61 580-582
• 6 Gurecki P J, Holden K R, Sahn E E, Dyer D S, Cure J K. Developmental neural abnormalities and seizures in epidermal nevus syndrome.  Dev Med Child Neurol. 1996;  38 716-723
• 7 Haberland C. Encephalocraniocutaneous lipomatosis.  Arch Neurol. 1999;  22 144-154
• 8 Happle R. How many epidermal nevus syndromes exist? A clinicogenetic classification.  J Am Acad Dermatol. 1991;  25 550-556
• 9 Jadasohn J. Bemerkungen zur Histologie der Systematischen Naevi und der ”Talgdrüsen-Naevi”.  Arch Derm Syph. 1895;  33 355-408
• 10 Lazzeri S, Mascalchi M, Cellerini M, Martinetti M G, Dal Pozzo G. Epidermal nevus syndrome: MR of intracranial involvement.  Am J Neuroradiol. 1993;  14 1255-1257
• 11 Parazzini C. ECCL: complete neuroradiological evaluation and follow-up of two cases.  Am J Neuroradiol. 1999;  20 173-176
• 12 Pavone L, Curatolo P, Rizzo R, Micali G, Incorpora G, Garg B P. et al . Epidermal nevus syndrome: a neurologic variant with hemimegalencephaly, gyral malformation, mental retardation, seizures, and facial hemihypertrophy.  Neurology. 1991;  41 266-271
• 13 Sakuta R, Aikawa H, Takashima S, Ryo S. Epidermal nevus syndrome with hemimegalencephaly: neuropathological study.  Brain Dev. 1991;  13 260-265
• 14 Sanchez N P, Rhodes A R, Mandell F, Mihm M. Encephalocraniocutaneous lipomatosis: a new neurocutaneous syndrome.  Br J Dermatol. 1981;  104 89-96
• 15 Schimmelpenning G W. Klinischer Beitrag zur Symptomatologie der Phakomatosen.  Roentgen Forschung. 1957;  87 716-720
• 16 Schlack H G, Skopnik H. Encephalocraniocutane Lipomatose und linearer Naevus sebaceus.  Monatsschr Kinderheilk. 1985;  133 235-237
• 17 Sybert V. Genetic Skin Disorders. New York; Oxford University Press 1997: 525-528
• 18 Tabi H, Lachman R S. Radiology of Syndromes, Metabolic Disorders, and Skeletal Dysplasia. St. Louis; Mosby 1996