Title
The phakomatoses: dermatologic clues to neurologic anomalies
UMMS Affiliation
Department of Pediatrics
Publication Date
2007-09-06
Document Type
Article
Subjects
Abnormalities, Multiple; Hamartoma Syndrome, Multiple; Humans; Nervous System Diseases; Neurocutaneous Syndromes; Neurofibromatosis 1; Skin Diseases; Sturge-Weber Syndrome
Disciplines
Genetics and Genomics | Medical Genetics | Pediatrics
Abstract
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.
DOI of Published Version
10.1016/j.spen.2007.07.007
Source
Semin Pediatr Neurol. 2007 Sep;14(3):140-9. Link to article on publisher's site
Journal/Book/Conference Title
Seminars in pediatric neurology
Related Resources
PubMed ID
17980311
Repository Citation
Nowak, Catherine Bearce, "The phakomatoses: dermatologic clues to neurologic anomalies" (2007). Genetics. 17.
https://escholarship.umassmed.edu/peds_genetics/17