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

Keywords

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

Access to Document

10.1002/ccr3.2861

Cite this

@article{a040d8d87ef44ee2b8818ba24fc29ab7,

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 = "NF1, SPRED1, caf{\'e}-au-lait macules, legius syndrome, lisch nodules, neurofibromatosis type 1, neurofibromatosis type 1-like syndrome",

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,

day = "1",

doi = "10.1002/ccr3.2861",

language = "English",

volume = "8",

pages = "1867--1871",

journal = "Clinical Case Reports",

issn = "2050-0904",

publisher = "John Wiley and Sons Ltd",

number = "10",

}

TY - JOUR

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 - NF1

KW - SPRED1

KW - café-au-lait macules

KW - legius syndrome

KW - lisch nodules

KW - neurofibromatosis type 1

KW - neurofibromatosis type 1-like syndrome

UR - https://www.scopus.com/pages/publications/85090057045

U2 - 10.1002/ccr3.2861

DO - 10.1002/ccr3.2861

M3 - Article

AN - SCOPUS:85090057045

SN - 2050-0904

VL - 8

SP - 1867

EP - 1871

JO - Clinical Case Reports

JF - Clinical Case Reports

IS - 10

ER -

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

Abstract

Keywords

Access to Document

Fingerprint

Cite this