Neurofibromatosis, type 1
Neurofibromatosis 1

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Description from OMIM

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009). Type II neurofibromatosis (NF2; 101000) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2; 607379) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993). Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; 120436 and MSH2; 609309) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (276300), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1. See also Legius syndrome (611431), a genetically distinct disorder with a similar phenotype to NF1.

Prevalence of clinical parameters (%)

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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Cafe-au-lait spots integumentary 91 % 9128932 2011-10-19
Intertriginous freckling integumentary 86 % 9128932 2011-10-12
Lisch nodules nervous 57 % 9128932 2011-10-12
Neurofibromas integumentary 54 % 9128932 2011-10-12
Macrocephaly nervous 39 % 11337320 2011-10-12
Scoliosis skeletal 26 % 9128932 2011-10-12
Dysplastic sphenoid wing skeletal 11 % 9128932 2011-10-12
Seizures nervous 6 % 9128932 2011-10-12

List of references:

Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients.
J M Friedman, P H Birch,

Type 1 Neurofibromatosis, NF1, is a common genetic disorder with variable clinical manifestations. Although NF1 often is only of cosmetic concern, serious and even lethal complications may occur. It is not possible to predict which symptoms will develop in any affected individual. The NNFF International Database is a multicentre collaborative system for collecting information about this condition. At the time of this analysis, complete clinical information was available on 1,479 probands and 249 of their affected relatives with NF1. On average, the age at diagnosis of NF1 was 8 years younger in the probands than in the affected relatives (P<.01). Many of the manifestations of NF1 were more frequent in the probands than in their affected relatives. The age-specific prevalence of most manifestations of NF1 increases with age. Despite biases inherent in a convenience sample from specialist clinics, the frequencies of many of the serious manifestations of NF1 are similar to those of two smaller population-based studies. The frequencies in this study are likely representative of patients seen at specialized clinics.

American journal of medical genetics - May 1997

Prospective evaluation of the brain in asymptomatic children with neurofibromatosis type 1: relationship of macrocephaly to T1 relaxation changes and structural brain abnormalities.
R G Steen, J S Taylor, J W Langston, J O Glass, V R Brewer, W E Reddick, R Mages, E K Pivnick,

Mutation of the neurofibromatosis type 1 (NF-1) gene may be associated with abnormal growth control in the brain. Because macrocephaly could be a sign of abnormal brain development and because 30% to 50% of children with NF-1 display macrocephaly in the absence of hydrocephalus, we sought to determine the relationship between macrocephaly and other brain abnormalities in young subjects with NF-1. These subjects were free of brain tumor, epilepsy, or other obvious neurologic problems.

AJNR. American journal of neuroradiology - May 2001