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Laurence J. Meyer, PhD, MD

Arch Dermatol. 1993;129(5):625-626.

	Since this article does not have an abstract, we have provided the first 150 words of the full text PDF and any section headings.

Neurofibromatosis type 1 (NF-1) is one of the more common autosomal dominant genetic traits, affecting one in 2500 persons. Although the gene responsible has been mapped to chromosome 17¹ and more recently isolated,^2,3 the chain of molecular events from the altered protein responsible for NF-1 to the disease manifestations (such as the growth of cutaneous neurofibromas and cafe-au-lait macules) is not clearly understood. Moreover, the molecular understanding thus far achieved does not directly lead to a method for altering that chain of events.

This leaves the dermatologist and other physicians evaluating patients with NF-1 relatively unaffected by the recent molecular genetic advances. Patients are often referred to a dermatologist for the initial diagnosis of NF-1. In isolated cases, which constitute approximately 50% of the patients, diagnosis is based on physical examination and a history demonstrating the presence of two of the seven criteria⁴: six or more cafe-au-lait macules, two or more neurofibromas, Lisch nodules, . . . [Full Text PDF of this Article]

Author Affiliations
Medical Service Department of Veterans Affairs Medical Center and Division of Dermatology Department of Internal Medicine University of Utah School of Medicine 50 N Medical Dr Salt Lake City, UT 84132

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