Encephalocraniocutaneous lipomatosis

Moise L. Levy, Catherine Massey

Research output: Chapter in Book/Report/Conference proceedingChapter

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.

Original languageEnglish (US)
Title of host publicationHandbook of Clinical Neurology
PublisherElsevier B.V.
Pages265-269
Number of pages5
DOIs
StatePublished - Jan 1 2015

Publication series

NameHandbook of Clinical Neurology
Volume132
ISSN (Print)0072-9752
ISSN (Electronic)2212-4152

Fingerprint

Dermoid Cyst
Lipoma
Neurosurgery
Ophthalmology
Neurology
Neurologic Manifestations
Dermatology
Scalp
Counseling
Patient Care
Mutation
Encephalocraniocutaneous lipomatosis

Keywords

  • Dermatologic
  • Encephalocraniocutaneous lipomatosis (ECCL)
  • Mosaic
  • Ocular dermoid
  • Spinal lipoma

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Levy, M. L., & Massey, C. (2015). Encephalocraniocutaneous lipomatosis. In Handbook of Clinical Neurology (pp. 265-269). (Handbook of Clinical Neurology; Vol. 132). Elsevier B.V.. https://doi.org/10.1016/B978-0-444-62702-5.00019-6

Encephalocraniocutaneous lipomatosis. / Levy, Moise L.; Massey, Catherine.

Handbook of Clinical Neurology. Elsevier B.V., 2015. p. 265-269 (Handbook of Clinical Neurology; Vol. 132).

Research output: Chapter in Book/Report/Conference proceedingChapter

Levy, ML & Massey, C 2015, Encephalocraniocutaneous lipomatosis. in Handbook of Clinical Neurology. Handbook of Clinical Neurology, vol. 132, Elsevier B.V., pp. 265-269. https://doi.org/10.1016/B978-0-444-62702-5.00019-6
Levy ML, Massey C. Encephalocraniocutaneous lipomatosis. In Handbook of Clinical Neurology. Elsevier B.V. 2015. p. 265-269. (Handbook of Clinical Neurology). https://doi.org/10.1016/B978-0-444-62702-5.00019-6
Levy, Moise L. ; Massey, Catherine. / Encephalocraniocutaneous lipomatosis. Handbook of Clinical Neurology. Elsevier B.V., 2015. pp. 265-269 (Handbook of Clinical Neurology).
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