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Case Reports
. 2020 Sep 1;8(10):1867-1871.
doi: 10.1002/ccr3.2861. eCollection 2020 Oct.

Lisch nodules and iris mammillations in two siblings with familial legius syndrome

Kaitlyn D Bixel  1 , Miguel J Cano  1 , Damon M Johnson  2 , Benjamin Gomez  2 , Laura V Lobsinger  2 , Frank E Valentin  2 , David T Hsieh  3 , Luis O Rohena  4   5
Affiliations
Case Reports

Lisch nodules and iris mammillations in two siblings with familial legius syndrome

Kaitlyn D Bixel et al. Clin Case Rep. .

Abstract

Legius syndrome is characterized by numerous café-au-lait macules and intertriginous freckling, but typically lacks the distinctive tumor manifestations of neurofibromatosis type 1. We report two siblings with Legius syndrome and Lisch nodules illustrating the importance of eye surveillance in these patients.

Keywords: NF1; SPRED1; café‐au‐lait macules; legius syndrome; lisch nodules; neurofibromatosis type 1; neurofibromatosis type 1‐like syndrome.

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Conflict of interest statement

The authors have no conflict of interest to declare.The view(s) expressed herein are those of the author(s) and do not reflect the official policy or position of Brooke Army Medical Center, the U.S. Army Medical Department, the U.S. Army Office of the Surgeon General, the Department of the Army, the Department of the Air Force and Department of Defense or the U.S. Government.

Figures

Figure 1
Figure 1
Multiple large café‐au‐lait macules in case 1
Figure 2
Figure 2
Lisch nodules and iris mammillations in right iris of case 1
Figure 3
Figure 3
Left iris of case 1
Figure 4
Figure 4
Multiple large café‐au‐lait macules in case 2
Figure 5
Figure 5
Intertriginous freckling in case 2
Figure 6
Figure 6
Right eye Lisch nodules in case 2
Figure 7
Figure 7
Left eye Lisch nodules in case 2
Figure 8
Figure 8
Pedigree of family. formula image formula image Affected male/ affected female (multiple CALMs). formula image formula image Unaffected male/ unaffected female. formula image Proband. formula image Deceased
See this image and copyright information in PMC

References

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