Misdiagnosis of "neurofibromatosis" in patients with piebaldism

Dermatology Online Journal

Volumn 17, Issue 11, 2011, Pages

  Spritz, Richard ^a  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CAFE AU LAIT SPOT; DIAGNOSTIC ERROR; DNA DETERMINATION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; KIT GENE; LETTER; NEUROFIBROMATOSIS; NF1 GENE; PIEBALDISM;

EID: 84856446776     PISSN: 10872108     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (5)

1. Duarte AF, Mota A, Baudrier T, Morais P, Santos A, Cerqueira R, Tavares P, Azevedo F. Piebaldism and neurofibromatosis type 1: family report. Derm Online J 2010;16(1):11. [PubMed]
2. Spritz RA. Genetic hypomelanoses: Disorders characterized by congenital white spotting-Piebaldism, Waardenburg syndrome, and related genetic disorders of melanocyte development-Clinical aspects. In, Nordlund JJ, Boissy RE, Hearing VJ, King RA, Oetting WS, Ortonne J-P, eds. The Pigmentary System. Blackwell, Malden, MA, 2nd Edn., 2006:pp.541-550.
3. Spritz RA, Itin PH, Gutmann DH. Piebaldism and neurofibromatosis type 1: Horses of very different colors. J Invest Dermatol 2004;122:xxxiv-xxxv. [PubMed]
4. National Institutes of Health Consensus Development Conference: Neurofibromatosis: Conference statement. Arch Neurol 1988;45:575-578. [PubMed]
5. Guttmann DH, Aylsworth A, Carey JC, Korf B, Marks J, Pyeritz RE, Rubenstein A, Viskochil D. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA 1997;278:5-57. [PubMed]