The phakomatoses: dermatologic clues to neurologic anomalies

UMMS Affiliation

Department of Pediatrics



Document Type


Medical Subject Headings

Abnormalities, Multiple; Hamartoma Syndrome, Multiple; Humans; Nervous System Diseases; Neurocutaneous Syndromes; Neurofibromatosis 1; Skin Diseases; Sturge-Weber Syndrome


Genetics and Genomics | Medical Genetics | Pediatrics


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.

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Citation: Semin Pediatr Neurol. 2007 Sep;14(3):140-9. Link to article on publisher's site

Related Resources

Link to Article in PubMed