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

Kaitlyn D. Bixel; Miguel J. Cano; Damon M. Johnson; Benjamin Gomez; Laura V. Lobsinger; Frank E. Valentin; David T. Hsieh; Luis O. Rohena

doi:10.1002/ccr3.2861

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

Kaitlyn D. Bixel^*, Miguel J. Cano, Damon M. Johnson, Benjamin Gomez, Laura V. Lobsinger, Frank E. Valentin, David T. Hsieh, Luis O. Rohena

^*Corresponding author for this work

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

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.

Original language	English
Pages (from-to)	1867-1871
Number of pages	5
Journal	Clinical Case Reports
Volume	8
Issue number	10
DOIs	https://doi.org/10.1002/ccr3.2861
State	Published - 1 Oct 2020
Externally published	Yes

Keywords

café-au-lait macules
legius syndrome
lisch nodules
neurofibromatosis type 1
neurofibromatosis type 1-like syndrome
NF1
SPRED1

Access to Document

10.1002/ccr3.2861

Cite this

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title = "Lisch nodules and iris mammillations in two siblings with familial legius syndrome",

abstract = "Legius syndrome is characterized by numerous caf{\'e}-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 = "caf{\'e}-au-lait macules, legius syndrome, lisch nodules, neurofibromatosis type 1, neurofibromatosis type 1-like syndrome, NF1, SPRED1",

author = "Bixel, {Kaitlyn D.} and Cano, {Miguel J.} and Johnson, {Damon M.} and Benjamin Gomez and Lobsinger, {Laura V.} and Valentin, {Frank E.} and Hsieh, {David T.} and Rohena, {Luis O.}",

note = "Publisher Copyright: Published 2020. This article is a U.S. Government work and is in the public domain in the USA. Clinical Case Reports published by John Wiley & Sons Ltd.",

year = "2020",

month = oct,

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doi = "10.1002/ccr3.2861",

language = "English",

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journal = "Clinical Case Reports",

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T1 - Lisch nodules and iris mammillations in two siblings with familial legius syndrome

AU - Bixel, Kaitlyn D.

AU - Cano, Miguel J.

AU - Johnson, Damon M.

AU - Gomez, Benjamin

AU - Lobsinger, Laura V.

AU - Valentin, Frank E.

AU - Hsieh, David T.

AU - Rohena, Luis O.

N1 - Publisher Copyright: Published 2020. This article is a U.S. Government work and is in the public domain in the USA. Clinical Case Reports published by John Wiley & Sons Ltd.

PY - 2020/10/1

Y1 - 2020/10/1

N2 - 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.

AB - 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.

KW - café-au-lait macules

KW - legius syndrome

KW - lisch nodules

KW - neurofibromatosis type 1

KW - neurofibromatosis type 1-like syndrome

KW - NF1

KW - SPRED1

UR - http://www.scopus.com/inward/record.url?scp=85090057045&partnerID=8YFLogxK

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DO - 10.1002/ccr3.2861

M3 - Article

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VL - 8

SP - 1867

EP - 1871

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 10

ER -