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

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...

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Published inClinical case reports Vol. 8; no. 10; pp. 1867 - 1871
Main Authors Bixel, Kaitlyn D., Cano, Miguel J., Johnson, Damon M., Gomez, Benjamin, Lobsinger, Laura V., Valentin, Frank E., Hsieh, David T., Rohena, Luis O.
Format Journal Article
LanguageEnglish
Published England John Wiley & Sons, Inc 01.10.2020
John Wiley and Sons Inc
Wiley
Subjects
café‐au‐lait macules
Case Report
Case Reports
Genetic disorders
Genetics
legius syndrome
lisch nodules
Medical personnel
Mutation
neurofibromatosis type 1
neurofibromatosis type 1‐like syndrome
Neurological disorders
NF1
Patients
SPRED1
Tumors
SPRED1
café‐au‐lait macules
legius syndrome
NF1
neurofibromatosis type 1
neurofibromatosis type 1‐like syndrome
lisch nodules
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Summary: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. 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.
ISSN:2050-0904
2050-0904
DOI:10.1002/ccr3.2861