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Previous Volume 343:1573 November 23, 2000 Number 21 Next

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To the Editor: The medical mystery in the October 5 issue¹ involved a 19-year-old man, shown here in Figure 1, who had numerous dome-shaped elevations on the surface of the iris, or Lisch nodules. Lisch nodules are melanocytic hamartomas that are either yellow or brown. They are visible on inspection, pathognomonic of neurofibromatosis type 1, and do not cause symptoms. The incidence of Lisch nodules among patients with neurofibromatosis type 1 increases with age: at the age of 5 years only 22 percent have Lisch nodules, whereas at the age of 20 years 100 percent have them.² Therefore, older patients who do not have Lisch nodules are also unlikely to have neurofibromatosis type 1.

View larger version (85K): [in this window] [in a new window]   Figure 1. Photographs of the Iris of a 19-Year-Old Man with Neurofibromatosis Type 1, Showing Multiple Lisch Nodules.

 

Gerhard Kurlemann, M.D.
Otfried Debus, M.D.
University of Münster
D-48129 Münster, Germany

Editor's note: We received 551 responses to this medical mystery. About 26 percent of the respondents said that the photographs of the eyes showed Lisch nodules and that the man had neurofibromatosis. The most common response, suggested by about 43 percent of respondents, was that the photographs showed Kayser–Fleischer rings and that the diagnosis was Wilson's disease or some other disorder of the liver. An additional 1 percent suggested that the correct answer was a sunflower cataract, indicating the presence of Wilson's disease. The other responses offered about 50 different explanations, including hypercholesterolemia; Koeppe nodules, indicating sarcoidosis; reflection of a lamp; rubeosis iridis, indicating diabetes mellitus; Waardenburg's syndrome; and Williams's syndrome.

References

1. Kurlemann G, Debus O. A medical mystery. N Engl J Med 2000;343:1019-1019. [Free Full Text]
2. Lubs M-LE, Bauer MS, Formas ME, Djokic B. Lisch nodules in neurofibromatosis type 1. N Engl J Med 1991;324:1264-1266. [Medline]

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