Lisch nodule

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Swathi Venkatesan, M.B.B.S.[2]

Synonyms and Keywords: Sakurai-lisch nodule

Overview

Lisch nodules are well defined melanocytic hamartomas of the iris. Lisch nodules generally appear as dome-shaped gelatinous masses. Lisch nodules masses are more commonly develop on the surface of the iris, also known as iris hamartomas. Lisch nodules are gold-tan to brown in color, they may grow up to 2 mm in diameter and can be of different sizes on the same iris. Lisch nodules arise from mast cells, pigmented cells and fibroblast-like cells. The presence of Lisch nodules is the most common clinical sign of Neurofibromatosis 1; ninety-three percent of cases are bilaterally affected and an average of 25 nodules can be counted on each iris. Once iris hamartomas have developed, they remain stable throughout life. In 80% of eyes, Lisch nodules may be found in the inferior quadrants of the iris and this may be related to greater sun exposure, one of the postulated factors in the development of these benign tumefactions.

Historical Perspective

Classification

  • There is no established system for the classification of Lisch nodules.

Pathophysiology

Causes

Differential diagnosis

Epidemiology and Demographics

Incidence

Prevalence

  • The prevalence of Lisch nodules is approximately 1 in 3500 individuals worldwide.[23]

Age

  • Lisch nodules are predominantly visible in children usually after the age of six years.[24]
  • 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.
  • Lisch Nodules may be found in a very limited number of individuals without NF.
  • The de novo mutations occur primarily in paternally derived chromosomes, and the likelihood of de novo NF1 increases with advanced paternal age.

Risk Factors

Screening

  • However, Lisch nodules are seen in 95% of children with NF1 by age 20.[26]

Natural History, Complications and Prognosis

Natural History

  • The symptoms of Lisch Nodules usually develop in the first decade of life, and mostly asymptomatic.

Complications

Prognosis

  • Prognosis is generally good of patients with Lisch Nodules.

Diagnosis

Diagnostic Criteria for neurofibromatosis 1

  • The diagnosis is primarily based on clinical assessment and two or more of the features are required to confirm the diagnosis.

Physical Examination

Diagnostic Studies

Treatment

Medical Therapy

Primary Prevention

Secondary Prevention

References

  1. "Multiple, Unilateral Lisch Nodules in the Absence of Other Manifestations of Neurofibromatosis Type 1".
  2. Antônio JR, Goloni-Bertollo EM, Trídico LA (2013). "Neurofibromatosis: chronological history and current issues". An Bras Dermatol. 88 (3): 329–43. doi:10.1590/abd1806-4841.20132125. PMC 3754363. PMID 23793209.
  3. Hosoi, Kiyoshi (1931). "MULTIPLE NEUROFIBROMATOSIS (von RECKLINGHAUSEN'S DISEASE)". Archives of Surgery. 22 (2): 258. doi:10.1001/archsurg.1931.01160020081004. ISSN 0272-5533.
  4. Gabhane SK, Kotwal MN, Bobhate SK (2010). "Segmental neurofibromatosis: a report of 3 cases". Indian J Dermatol. 55 (1): 105–8. doi:10.4103/0019-5154.60366. PMC 2856359. PMID 20418991.
  5. Dimitrova, Valentina (2009). "A CASE OF NEUROFIBROMATOSIS TYPE 1". Journal of IMAB - Annual Proceeding (Scientific Papers). 14, 1 (2008): 63–67. doi:10.5272/jimab.14-1-2010.63. ISSN 1312-773X.
  6. Terzi YK, Oguzkan-Balci S, Anlar B, Aysun S, Guran S, Ayter S (2009). "Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling". Genet Couns. 20 (2): 195–202. PMID 19650418.
  7. Boley S, Sloan JL, Pemov A, Stewart DR (2009). "A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1". Invest Ophthalmol Vis Sci. 50 (11): 5035–43. doi:10.1167/iovs.09-3650. PMC 2883270. PMID 19516012.
  8. Boyd KP, Korf BR, Theos A (2009). "Neurofibromatosis type 1". J Am Acad Dermatol. 61 (1): 1–14, quiz 15-6. doi:10.1016/j.jaad.2008.12.051. PMC 2716546. PMID 19539839.
  9. Theos, Amy; Korf, Bruce R. (2006). "Pathophysiology of Neurofibromatosis Type 1". Annals of Internal Medicine. 144 (11): 842. doi:10.7326/0003-4819-144-11-200606060-00010. ISSN 0003-4819.
  10. Cohen R, Shuper A (2010). "[Developmental manifestation in children with neurofibromatosis type 1]". Harefuah. 149 (1): 49–52, 61. PMID 20422842.
  11. de Goede-Bolder A, Cnossen MH, Dooijes D, van den Ouweland AM, Niermeijer MF (2001). "[From gene to disease; neurofibromatosis type 1]". Ned Tijdschr Geneeskd. 145 (36): 1736–8. PMID 11572174.
  12. Lubs, Marie-Louise E.; Bauer, Mislen S.; Formas, Maria E.; Djokic, Borivoje (1991). "Lisch Nodules in Neurofibromatosis Type 1". New England Journal of Medicine. 324 (18): 1264–1266. doi:10.1056/NEJM199105023241807. ISSN 0028-4793.
  13. Dimitrova, Valentina (2009). "A CASE OF NEUROFIBROMATOSIS TYPE 1". Journal of IMAB - Annual Proceeding (Scientific Papers). 14, 1 (2008): 63–67. doi:10.5272/jimab.14-1-2010.63. ISSN 1312-773X.
  14. Abaloun Y, Ajhoun Y (2017). "[Lisch nodule in neurofibromatosis type 1]". Pan Afr Med J. 27: 218. doi:10.11604/pamj.2017.27.218.11517. PMC 5622834. PMID 28979620.
  15. Richetta A, Giustini S, Recupero SM, Pezza M, Carlomagno V, Amoruso G; et al. (2004). "Lisch nodules of the iris in neurofibromatosis type 1". J Eur Acad Dermatol Venereol. 18 (3): 342–4. doi:10.1111/j.1468-3083.2004.00915.x. PMID 15096151.
  16. Richetta, A; Giustini, S; Recupero, SM; Pezza, M; Carlomagno, V; Amoruso, G; Calvieri, S (2004). "Lisch nodules of the iris in neurofibromatosis type 1". Journal of the European Academy of Dermatology and Venereology. 18 (3): 342–344. doi:10.1111/j.1468-3083.2004.00915.x. ISSN 0926-9959.
  17. Radius RL, Herschler J (1980). "Histopathology in the iris-nevus (Cogan-Reese) syndrome". Am J Ophthalmol. 89 (6): 780–6. doi:10.1016/0002-9394(80)90165-8. PMID 6992584.
  18. Makley TA, Kapetansky FM (1988). "Iris nevus syndrome". Ann Ophthalmol. 20 (8): 311–5. PMID 3190109.
  19. Lubs, Marie-Louise E.; Bauer, Mislen S.; Formas, Maria E.; Djokic, Borivoje (1991). "Lisch Nodules in Neurofibromatosis Type 1". New England Journal of Medicine. 324 (18): 1264–1266. doi:10.1056/NEJM199105023241807. ISSN 0028-4793.
  20. Terzi YK, Oguzkan-Balci S, Anlar B, Aysun S, Guran S, Ayter S (2009). "Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling". Genet Couns. 20 (2): 195–202. PMID 19650418.
  21. Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM; et al. (2010). "Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service". Am J Med Genet A. 152A (2): 327–32. doi:10.1002/ajmg.a.33139. PMID 20082463.
  22. Richetta A, Giustini S, Recupero SM, Pezza M, Carlomagno V, Amoruso G; et al. (2004). "Lisch nodules of the iris in neurofibromatosis type 1". J Eur Acad Dermatol Venereol. 18 (3): 342–4. doi:10.1111/j.1468-3083.2004.00915.x. PMID 15096151.
  23. Lammert M, Friedman JM, Kluwe L, Mautner VF (2005). "Prevalence of neurofibromatosis 1 in German children at elementary school enrollment". Arch Dermatol. 141 (1): 71–4. doi:10.1001/archderm.141.1.71. PMID 15655144.
  24. Cohen R, Shuper A (2010). "[Developmental manifestation in children with neurofibromatosis type 1]". Harefuah. 149 (1): 49–52, 61. PMID 20422842.
  25. Lubs, Marie-Louise E.; Bauer, Mislen S.; Formas, Maria E.; Djokic, Borivoje (1991). "Lisch Nodules in Neurofibromatosis Type 1". New England Journal of Medicine. 324 (18): 1264–1266. doi:10.1056/NEJM199105023241807. ISSN 0028-4793.
  26. Huson S, Jones D, Beck L (1987). "Ophthalmic manifestations of neurofibromatosis". Br J Ophthalmol. 71 (3): 235–8. doi:10.1136/bjo.71.3.235. PMC 1041127. PMID 3103673.
  27. Richetta A, Giustini S, Recupero SM, Pezza M, Carlomagno V, Amoruso G; et al. (2004). "Lisch nodules of the iris in neurofibromatosis type 1". J Eur Acad Dermatol Venereol. 18 (3): 342–4. doi:10.1111/j.1468-3083.2004.00915.x. PMID 15096151.
  28. Dimitrova, Valentina (2009). "A CASE OF NEUROFIBROMATOSIS TYPE 1". Journal of IMAB - Annual Proceeding (Scientific Papers). 14, 1 (2008): 63–67. doi:10.5272/jimab.14-1-2010.63. ISSN 1312-773X.
  29. Lewis RA, Riccardi VM (1981). "Von Recklinghausen neurofibromatosis. Incidence of iris hamartomata". Ophthalmology. 88 (4): 348–54. doi:10.1016/s0161-6420(81)35034-9. PMID 6789269.
  30. Huson S, Jones D, Beck L (1987). "Ophthalmic manifestations of neurofibromatosis". Br J Ophthalmol. 71 (3): 235–8. doi:10.1136/bjo.71.3.235. PMC 1041127. PMID 3103673.
  31. Abaloun Y, Ajhoun Y (2017). "[Lisch nodule in neurofibromatosis type 1]". Pan Afr Med J. 27: 218. doi:10.11604/pamj.2017.27.218.11517. PMC 5622834. PMID 28979620.
  32. Flüeler U, Boltshauser E, Kilchhofer A (1986). "Iris hamartomata as diagnostic criterion in neurofibromatosis". Neuropediatrics. 17 (4): 183–5. doi:10.1055/s-2008-1052525. PMID 3100979.
  33. Cohen R, Shuper A (2010). "[Developmental manifestation in children with neurofibromatosis type 1]". Harefuah. 149 (1): 49–52, 61. PMID 20422842.
  34. Sabol Z, Kipke-Sabol L (2005). "[Neurofibromatosis type 1 (von Recklinghausen's disease or peripheral neurofibromatosis): from phenotype to gene]". Lijec Vjesn. 127 (11–12): 303–11. PMID 16583938.
  35. Yang CC, Happle R, Chao SC, Yu-Yun Lee J, Chen W (2008). "Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1?". J Am Acad Dermatol. 58 (3): 493–7. doi:10.1016/j.jaad.2007.03.013. PMID 18280349.
  36. de Goede-Bolder A, Cnossen MH, Dooijes D, van den Ouweland AM, Niermeijer MF (2001). "[From gene to disease; neurofibromatosis type 1]". Ned Tijdschr Geneeskd. 145 (36): 1736–8. PMID 11572174.
  37. Terzi YK, Oguzkan-Balci S, Anlar B, Aysun S, Guran S, Ayter S (2009). "Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling". Genet Couns. 20 (2): 195–202. PMID 19650418.
  38. "Correlations between choroidal abnormalities, Lisch nodules, and age in patients with neurofibromatosis type 1".
  39. Lewis RA, Riccardi VM (1981). "Von Recklinghausen neurofibromatosis. Incidence of iris hamartomata". Ophthalmology. 88 (4): 348–54. doi:10.1016/s0161-6420(81)35034-9. PMID 6789269.
  40. Huson S, Jones D, Beck L (1987). "Ophthalmic manifestations of neurofibromatosis". Br J Ophthalmol. 71 (3): 235–8. doi:10.1136/bjo.71.3.235. PMC 1041127. PMID 3103673.
  41. Abaloun Y, Ajhoun Y (2017). "[Lisch nodule in neurofibromatosis type 1]". Pan Afr Med J. 27: 218. doi:10.11604/pamj.2017.27.218.11517. PMC 5622834. PMID 28979620.
  42. Yang CC, Happle R, Chao SC, Yu-Yun Lee J, Chen W (2008). "Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1?". J Am Acad Dermatol. 58 (3): 493–7. doi:10.1016/j.jaad.2007.03.013. PMID 18280349.
  43. Cohen R, Shuper A (2010). "[Developmental manifestation in children with neurofibromatosis type 1]". Harefuah. 149 (1): 49–52, 61. PMID 20422842.
  44. Dimitrova, Valentina (2009). "A CASE OF NEUROFIBROMATOSIS TYPE 1". Journal of IMAB - Annual Proceeding (Scientific Papers). 14, 1 (2008): 63–67. doi:10.5272/jimab.14-1-2010.63. ISSN 1312-773X.
  45. Nichols JC, Amato JE, Chung SM (2003). "Characteristics of Lisch nodules in patients with neurofibromatosis type 1". J Pediatr Ophthalmol Strabismus. 40 (5): 293–6. PMID 14560838.
  46. Lewis RA, Riccardi VM (1981). "Von Recklinghausen neurofibromatosis. Incidence of iris hamartomata". Ophthalmology. 88 (4): 348–54. doi:10.1016/s0161-6420(81)35034-9. PMID 6789269.
  47. Huson S, Jones D, Beck L (1987). "Ophthalmic manifestations of neurofibromatosis". Br J Ophthalmol. 71 (3): 235–8. doi:10.1136/bjo.71.3.235. PMC 1041127. PMID 3103673.
  48. Abaloun Y, Ajhoun Y (2017). "[Lisch nodule in neurofibromatosis type 1]". Pan Afr Med J. 27: 218. doi:10.11604/pamj.2017.27.218.11517. PMC 5622834. PMID 28979620.
  49. Cohen R, Shuper A (2010). "[Developmental manifestation in children with neurofibromatosis type 1]". Harefuah. 149 (1): 49–52, 61. PMID 20422842.
  50. Crişan M, Talu S, Florea M, Coprean D, Cosgarea R, Crişan D (2008). "[Lisch nodules. Markers for a non-invasive diagnosis in Recklinghausen neurofibromatosis]". Oftalmologia. 52 (4): 56–61. PMID 19354164.
  51. "Multifocal Head and Neck Neurofibromas with Osseous Abnormalities and Muscular Hypoplasia in a Child with Neurofibromatosis: Type I".
  52. Yang CC, Happle R, Chao SC, Yu-Yun Lee J, Chen W (2008). "Giant café-au-lait macule in neurofibromatosis 1: a type 2 segmental manifestation of neurofibromatosis 1?". J Am Acad Dermatol. 58 (3): 493–7. doi:10.1016/j.jaad.2007.03.013. PMID 18280349.
  53. Terzi YK, Oguzkan-Balci S, Anlar B, Aysun S, Guran S, Ayter S (2009). "Reproductive decisions after prenatal diagnosis in neurofibromatosis type 1: importance of genetic counseling". Genet Couns. 20 (2): 195–202. PMID 19650418.
  54. Dimitrova, Valentina (2009). "A CASE OF NEUROFIBROMATOSIS TYPE 1". Journal of IMAB - Annual Proceeding (Scientific Papers). 14, 1 (2008): 63–67. doi:10.5272/jimab.14-1-2010.63. ISSN 1312-773X.

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