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Proteus Syndrome

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Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes

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Abstract

Proteus syndrome (OMIM # 176920) (OMIM™ 2005), a rare and highly variable congenital hamartomatous disorder (Gorlin et al. 2001), is a member of a group designated as local “overgrowth diseases ” (Cohen et al. 2002). It consists of asymmetric (mosaic), disproportionate and progressive overgrowth of body parts, connective tissue nevi, epidermal nevi, dysregulated adipose tissue, vascular and lymphatic malformations, and visceral abnormalities (Cohen 2005; Biesecker 2001, 2006). Although the cause of Proteus syndrome is as yet unknown (Barker et al. 2001, Biesecker et al. 2001), it is thought to arise from a sporadic postzygotic mutation (Cohen et al. 2002, Gorlin et al. 2001, Turner et al. 2004).

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Authors and Affiliations

  1. Institute of Neurological Science, National Research Council, Viale R. Margherita, 6, Catania, 95125, Italy

    Martino Ruggieri MD, PhD

  2. Department of Paediatrics, University of Catania, Catania, Italy

    Martino Ruggieri MD, PhD

  3. Paediatric Neurology Service, University Hospital La Paz, University of Madrid, Madrid, Spain

    Ignacio Pascual-Castroviejo MD

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  1. Institute of Neurological Science, National Research Council, Catania, Italy

    Martino Ruggieri

  2. University Hospital La Paz, Madrid, Spain

    Ignacio Pascual-Castroviejo

  3. Institute of Neurosurgery, Catholic University of the Sacred Heart, Rome, Italy

    Concezio Di Rocco

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Ruggieri, M., Pascual-Castroviejo, I. (2008). Proteus Syndrome. In: Ruggieri, M., Pascual-Castroviejo, I., Di Rocco, C. (eds) Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes. Springer, Vienna. https://doi.org/10.1007/978-3-211-69500-5_31

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