Seminars in Pediatric Neurology
Volume 14, Issue 3 , Pages 140-149, September 2007

The Phakomatoses: Dermatologic Clues to Neurologic Anomalies

  • Catherine Bearce Nowak, MD

      Affiliations

    • Corresponding Author InformationAddress reprint requests to Catherine Bearce Nowak, MD, The National Birth Defects Center, 40 Second Avenue, Suite 520, Waltham, MA 02451-1137.

The National Birth Defects Center, Waltham, MA.

The phakomatoses of particular interest to neurologists including Sturge-Weber syndrome, neurofibromatosis type 1, neurofibromatosis type 2, Bannayan-Riley-Ruvalcaba syndrome, and Proteus syndrome are presented. The physical manifestations required for clinical diagnosis, the neurologic features, and recommendations for management are given. The molecular etiology and genetic aspects of these disorders are briefly discussed as well as future implications of on-going research.

Keywords: neurocutaneous, portwine stain, café au lait spots, meningioma, autism

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PII: S1071-9091(07)00053-8

doi:10.1016/j.spen.2007.07.007

Seminars in Pediatric Neurology
Volume 14, Issue 3 , Pages 140-149, September 2007

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