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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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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