Lisch nodule epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Swathi Venkatesan, M.B.B.S.[2]

Epidemiology & Demographics

  • NF1 is an autosomal dominant genetic disorder with an incidence of approximately 1 in 2600 to 3000 individuals.
    • Approximately one-half of the cases are familial (inherited)
    • The remainder are the result of de novo (sporadic) mutations.
    • The de novo mutations occur primarily in paternally derived chromosomes, and the likelihood of de novo NF1 increases with advanced paternal age
  • Lisch nodules are predominantly visible in children usually after the age of six years.[1]
  • Lisch Nodule incidence in NF1 increases with age and their prevalence raises by about 10% per year of life, up to age 9.
  • Lisch nodules are found in 93% of adults with NF-1 but have not been described in NF-2.[2]
  • Lisch Nodules may be found in a very limited number of individuals without NF.[3]
  • Multiple Lisch nodules appear to be found only in patients with peripheral neurofibromatosis (neurofibromatosis type 1, or von Recklinghausen's disease), an autosomal disorder with a prevalence of 1 in 3500.

References

  1. Maharaj, A; Singh,, VRS; Lalchan, SA (2014). "Lisch and the Importance of His Nodules". West Indian Medical Journal. doi:10.7727/wimj.2013.323. ISSN 0043-3144.
  2. Charles, S. J. (1989). "Lisch Nodules in Neurofibromatosis Type 2". Archives of Ophthalmology. 107 (11): 1571. doi:10.1001/archopht.1989.01070020649012. ISSN 0003-9950.
  3. Greene, Carol L; Male, Wendy S; Coleman, Shelley H; Ohrliok, Martin E; Gordon, Robert A (1987). "LISCH NODULES IN AN UNSELECTED POPULATION: PREVALENCE AND USEFULNESS AS INDICATION OF NEUROFIBROMATOSIS". Pediatric Research. 21 (4): 227A–227A. doi:10.1203/00006450-198704010-00368. ISSN 0031-3998.


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