This study may identify genes that predict the seriousness of neurofibromatosis type 1 (NF1). Finding these genes may explain why some people with NF1 have more medical problems than others. The study will also examine medical problems in NF1 that are rarely seen and are not well understood. Male and female patients with NF1 who have gone through puberty may be eligible for this study, as well as patients of any age who have unique or under-recognized disease features. Affected and unaffected family members, including parents, siblings, and more distant relatives, may also be enrolled. Candidates are screened with a discussion of medical history or review of medical records, or both. Participants undergo the following procedures: Patients with NF1 * Physical examination and family history * Photographs of the iris of each eye * Photographs of the back, abdomen and thigh to count skin tumors * Photographs of the face and body (with underwear on) to help track growth and appearance * Magnetic resonance imaging (MRI) of the spine (This test uses a magnetic field and radio waves to look for tumors and curvature of the spine. The patient lies still in the scanner, a narrow cylindrical device, wearing earplugs to muffle loud knocking sounds that occur during the scan. A contrast material called gadolinium is injected into a vein through a catheter to enhance the images.) * Blood draw for genetic studies * Possibly a skin biopsy (with the use of numbing medicine, removal of a small sample of skin tissue) to grow cells in the laboratory Patients with NF1 who have unique or under-recognized disease features * Physical examination and family history * Blood draw for genetic studies * Possibly a skin biopsy * Possibly additional tests, such as blood work, x-rays, photographs, MRIs, ultrasounds, or other tests Unaffected family members * Blood draw for genetic studies * Brief skin and eye examinations * Possibly a skin biopsy for cell culture Families are asked to give permission for researchers to recontact them for follow-up information, additional blood samples, or follow-up visit.
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Phenotype individuals and family members affected with NFl by routine history and physical.
Timeframe: ongoing
Identify candidate modifier genes by determining the correlation coefficient of the level of gene expression and the severity of each sub- phenotype (as phenotyped in Aim 1).
Timeframe: ongoing
Characterize individuals with 1) unique or under-recognized features of NFl, and 2) individuals with NFl-like phenotypes, including those patients with a known or suspected RAS pathway disorder.
Timeframe: ongoing