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infer that the neurofibromin may act as a tumor suppressor. [11]

Many individuals with this pathology are known to
present below average intelligence and some types of
learning disabilities, which may comprise neuromotor
dysfunction, attention deficit hyperactivity disorder and
deficits in visual-spatial processing.

It was also found that 25-40% of individuals with NF-1
might present learning disabilities and up to 5-10% have
mental retardation. [4]

It should also be noted that when the lesion has a benign
aspect and there are no other signs of malignancy, the
excisional biopsia is the treatment of choice and it is
normally curative.

Financial support and sponsorship
Nil.

Conflict of interest
There are no conflicts of interest.

REFERENCES

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Figure 5: Final aspect of the wound closed 2. Parry DM, Eldridge R, Kaiser-Kupfer MI, Bouzas EA, Pikus A, Patronas
N. Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected
decurrent from years of scarification under clothes. [6] individuals and clinical evidence for heterogeneity. Am J Med Genet
1994;52:450-61.
Neurofibromatosis is a dominant autosomal neurogenetic 3. Morse RP. Neurofibromatosis type 1. Arch Neurol 1999;56:364-5.
[7]
disorder that tends to change and develop with time. 4. National Institutes of Health. Neurofibromatosis. Conference
Many authors demonstrated the development of this statement. National Institutes of Health Consensus Development
disease with increment of the nerve growth stimulation. 5. Conference. Arch Neurol 1988;45:575-8.
[8,9]
Reith JD, Goldblum JR. Multiple cutaneous plexiform schwannomas.
NF-1 is a pathology that can be associated with different Report of a case and review of the literature with particular reference
phenotypical manifestations where a group of patients to the association with types 1 and 2 neurofibromatosis and
often express cutaneous findings as first symptoms, whilst schwannomatosis. Arch Pathol Lab Med 1996;120:399-401.
others might develop life-threatening or severely disfiguring 6. Karnes PS. Neurofibromatosis: a common neurocutaneous disorder.
complications. Moreover, amongst individuals from the Mayo Clin Proc 1998;73:1071-6.
same family, neurofibromatosis presents itself in different 7. Gutmann DH. Recent insights into neurofibromatosis type 1: clear
degrees of severity and incidence. The spontaneous 8. genetic progress. Arch Neurol 1998;55:778-80.
Howell SJ, Wilton P, Lindberg A, Shalet SM. Growth hormone
mutation rate is 100 times greater than many other genes, replacement and the risk of malignancy in children with
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10. Barker D, Wright E, Nguyen K, Cannon L, Fain P, Goldgar D, Bishop
NF-I is linked to a large gene on band 17q11.2. It encodes DT, Carey J, Baty B, Kivlin J, Willard H, Wayne JS, Greig G, Leinwand
a protein called neurofibromin, which has a guanosine L, Nakamura Y, O’Connel P, Leppert M, Lalouel J-M, White R,
triphosphatase region that binds to Ras and positively Skolnick M. Gene for von Recklinghausen neurofibromatosis is in the
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guanosine diphosphate. Several studies confirmed the B, White R. Diagnosis of neurofibromatosis I byusing tightly linked,
negative regulation of Ras by this protein, allowing authors to flanking DNA markers. Am J Hum Genet 1990;46:943-9.

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