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Encephalocraniocutaneous Lipomatosis

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Textbook of Pediatric Neurosurgery

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Abstract

Encephalocraniocutaneous lipomatosis (ECCL), also called Haberland syndrome, is a rare, congenital, neurocutaneous disorder first described by Haberland and Perou in 1970. Since the first description of ECCL, roughly 70 cases have been described in literature.

The pathogenesis is unknown, and there is no evidence as yet of genetic transmission or chromosomal abnormalities. ECCL has a multisystemic involvement with a very wide and variable spectrum of clinical manifestations, but it has classical triad of cutaneous, ocular, and CNS abnormalities. The diagnosis of ECCL is based on history, clinical examination, and imaging studies. The management is usually symptomatic, and surgical correction of the cutaneous and subcutaneous lesions, especially on the face and cranium, may be necessary also for cosmetic improvement.

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Author information

Authors and Affiliations

  1. Catholic University of Rome, Rome, Italy

    Luca D’Angelo

Authors
  1. Luca D’Angelo
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Correspondence to Luca D’Angelo .

Editor information

Editors and Affiliations

  1. International Neuroscience Institute, Hannover, Germany

    Concezio Di Rocco

  2. Oakland Medical Center, Oakland, California, USA

    Dachling Pang

  3. University of Toronto Hospital for Sick Children, Toronto, Ontario, Canada

    James T. Rutka

Section Editor information

  1. Director of Pediatric Neurosurgery, International Neuroscience Institute, Hannover, Germany

    Concezio Di Rocco

  2. Pediatric Neurosurgery, Institute of Neurosurgery, Catholic University Medical School, Largo “A. Gemelli”,8, 00168, Rome, Italy

    Gianpiero Tamburrini

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D’Angelo, L. (2017). Encephalocraniocutaneous Lipomatosis. In: Di Rocco, C., Pang, D., Rutka, J. (eds) Textbook of Pediatric Neurosurgery. Springer, Cham. https://doi.org/10.1007/978-3-319-31512-6_49-1

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  • DOI: https://doi.org/10.1007/978-3-319-31512-6_49-1

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-31512-6

  • Online ISBN: 978-3-319-31512-6

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