Schimmelpenning syndrome is a rare, well-defined constellation of clinical phenotypes associated with the presence of nevus sebaceous and multisystem abnormalities most commonly manifested as cerebral, ocular, and skeletal defects [1]. A single nucleotide mutation in the HRAS or KRAS genes resulting in genetic mosaicism is responsible for the clinical manifestations of this syndrome in the majority of cases. We report a case of an adolescent boy with Schimmelpenning syndrome with a multifocal pilocytic astrocytoma. No HRAS or KRAS gene mutations were noted in the tumor on genetic sequencing. However, glial tumors have been associated with genetic mutations of RAS upregulation, which may imply a common pathway.

1.
Happle
R
.
The group of epidermal nevus syndromes Part I. Well defined phenotypes
.
J Am Acad Dermatol
.
2010
Jul
;
63
(
1
):
1
22
.
[PubMed]
0190-9622
2.
Moody
MN
,
Landau
JM
,
Goldberg
LH
.
Nevus sebaceous revisited
.
Pediatr Dermatol
.
2012
Jan-Feb
;
29
(
1
):
15
23
.
[PubMed]
0736-8046
3.
Baker
RS
,
Ross
PA
,
Baumann
RJ
.
Neurologic complications of the epidermal nevus syndrome
.
Arch Neurol
.
1987
Feb
;
44
(
2
):
227
32
.
[PubMed]
0003-9942
4.
Groesser
L
,
Herschberger
E
,
Ruetten
A
,
Ruivenkamp
C
,
Lopriore
E
,
Zutt
M
, et al
Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome
.
Nat Genet
.
2012
Jun
;
44
(
7
):
783
7
.
[PubMed]
1061-4036
5.
Happle
R
.
Nevus sebaceus is a mosaic RASopathy
.
J Invest Dermatol
.
2013
Mar
;
133
(
3
):
597
600
.
[PubMed]
0022-202X
6.
van de Warrenburg
BP
,
van Gulik
S
,
Renier
WO
,
Lammens
M
,
Doelman
JC
.
The linear naevus sebaceus syndrome
.
Clin Neurol Neurosurg
.
1998
Jun
;
100
(
2
):
126
32
.
[PubMed]
0303-8467
7.
Diven
DG
,
Solomon
AR
,
McNeely
MC
,
Font
RL
.
Nevus sebaceus associated with major ophthalmologic abnormalities
.
Arch Dermatol
.
1987
Mar
;
123
(
3
):
383
6
.
[PubMed]
0003-987X
8.
Bar
EE
,
Lin
A
,
Tihan
T
,
Burger
PC
,
Eberhart
CG
.
Frequent gains at chromosome 7q34 involving BRAF in pilocytic astrocytoma
.
J Neuropathol Exp Neurol
.
2008
Sep
;
67
(
9
):
878
87
.
[PubMed]
0022-3069
9.
Jacob
K
,
Albrecht
S
,
Sollier
C
,
Faury
D
,
Sader
E
,
Montpetit
A
, et al
Duplication of 7q34 is specific to juvenile pilocytic astrocytomas and a hallmark of cerebellar and optic pathway tumours
.
Br J Cancer
.
2009
Aug
;
101
(
4
):
722
33
.
[PubMed]
0007-0920
10.
Listernick
R
,
Ferner
RE
,
Liu
GT
,
Gutmann
DH
.
Optic pathway gliomas in neurofibromatosis-1: controversies and recommendations
.
Ann Neurol
.
2007
Mar
;
61
(
3
):
189
98
.
[PubMed]
0364-5134
11.
Helfferich
J
,
Nijmeijer
R
,
Brouwer
OF
,
Boon
M
,
Fock
A
,
Hoving
EW
, et al
Neurofibromatosis type 1 associated low grade gliomas: A comparison with sporadic low grade gliomas
.
Crit Rev Oncol Hematol
.
2016
Aug
;
104
:
30
41
.
[PubMed]
1040-8428
12.
Koeller
KK
,
Rushing
EJ
.
From the archives of the AFIP: pilocytic astrocytoma: radiologic-pathologic correlation
.
Radiographics
.
2004
Nov-Dec
;
24
(
6
):
1693
708
.
[PubMed]
0271-5333
13.
Meyerson
LB
.
Nevus unius lateralis, brain tumor, and diencephalic syndrome
.
Arch Dermatol
.
1967
May
;
95
(
5
):
501
4
.
[PubMed]
0003-987X
14.
Andriola
M
.
Nevus unius lateralis and brain tumor
.
Am J Dis Child
.
1976
Nov
;
130
(
11
):
1259
61
.
[PubMed]
0002-922X
15.
Sato
K
,
Kubota
T
,
Kitai
R
.
Linear sebaceous nevus syndrome (sebaceous nevus of Jadassohn) associated with abnormal neuronal migration and optic glioma: case report
.
Neurosurgery
.
1994
Aug
;
35
(
2
):
318
20
.
[PubMed]
0148-396X
16.
Seifert
F
,
Jäger
T
,
Ring
J
,
Chen
W
.
Concurrence of linear epidermal nevus and nevus flammeus in a man with optic pathway glioma: coincidence or phacomatosis?
Int J Dermatol
.
2012
May
;
51
(
5
):
592
3
.
[PubMed]
0011-9059
17.
Clancy
RR
,
Kurtz
MB
,
Baker
D
,
Sladky
JT
,
Honig
PJ
,
Younkin
DP
.
Neurologic manifestations of the organoid nevus syndrome
.
Arch Neurol
.
1985
Mar
;
42
(
3
):
236
40
.
[PubMed]
0003-9942
18.
Alfonso
I
,
Howard
C
,
Lopez
PF
,
Palomino
JA
,
Gonzalez
CE
.
Linear nevus sebaceous syndrome. A review
.
J Clin Neuroophthalmol
.
1987
Sep
;
7
(
3
):
170
7
.
[PubMed]
0272-846X
19.
Pe’er
J
,
Ilsar
M
.
Epibulbar complex choristoma associated with nevus sebaceus
.
Arch Ophthalmol
.
1995
Oct
;
113
(
10
):
1301
4
.
[PubMed]
0003-9950
20.
Moog
U
,
Jones
MC
,
Viskochil
DH
,
Verloes
A
,
Van Allen
MI
,
Dobyns
WB
.
Brain anomalies in encephalocraniocutaneous lipomatosis
.
Am J Med Genet A
.
2007
Dec
;
143A
(
24
):
2963
72
.
[PubMed]
1552-4825
21.
Barth
PG
,
Valk
J
,
Kalsbeek
GL
,
Blom
A
.
Organoid nevus syndrome (linear nevus sebaceus of Jadassohn): clinical and radiological study of a case
.
Neuropadiatrie
.
1977
Nov
;
8
(
4
):
418
28
.
[PubMed]
0028-3797
22.
Booth
TN
,
Rollins
NK
.
MR imaging of the spine in epidermal nevus syndrome
.
AJNR Am J Neuroradiol
.
2002
Oct
;
23
(
9
):
1607
10
.
[PubMed]
0195-6108
23.
Brodsky
MC
,
Kincannon
JM
,
Nelson-Adesokan
P
,
Brown
HH
.
Oculocerebral dysgenesis in the linear nevus sebaceous syndrome
.
Ophthalmology
.
1997
Mar
;
104
(
3
):
497
503
.
[PubMed]
0161-6420
24.
Canyigit
M
,
Oguz
KK
.
Epidermal nevus syndrome with internal carotid artery occlusion and intracranial and orbital lipomas
.
AJNR Am J Neuroradiol
.
2006
Aug
;
27
(
7
):
1559
61
.
[PubMed]
0195-6108
25.
Chandravanshi
SL
.
Encephalocraniocutaneous lipomatosis: a case report and review of the literature
.
Indian J Ophthalmol
.
2014
May
;
62
(
5
):
622
7
.
[PubMed]
0301-4738
26.
Choi
BH
,
Kudo
M
.
Abnormal neuronal migration and gliomatosis cerebri in epidermal nevus syndrome
.
Acta Neuropathol
.
1981
;
53
(
4
):
319
25
.
[PubMed]
0001-6322
27.
Grimalt
R
,
Ermacora
E
,
Mistura
L
,
Russo
G
,
Tadini
GL
,
Triulzi
F
, et al
Encephalocraniocutaneous lipomatosis: case report and review of the literature
.
Pediatr Dermatol
.
1993
Jun
;
10
(
2
):
164
8
.
[PubMed]
0736-8046
28.
Kamate
M
,
Dumale
A
,
Hattiholi
V
.
Parenchymal brain cysts in Schimmelpenning-Feuerstein-Mims syndrome
.
Neurol India
.
2009
Mar-Apr
;
57
(
2
):
225
6
.
[PubMed]
0028-3886
29.
Levin
S
,
Robinson
RO
,
Aicardi
J
,
Hoare
RD
.
Computed tomography appearances in the linear sebaceous naevus syndrome
.
Neuroradiology
.
1984
;
26
(
6
):
469
72
.
[PubMed]
0028-3940
30.
Lin
H
,
Yan
J
: Linear nevus sebaceous syndrome in a patient with atypical associated abnormalities. J Pediatr Ophthalmol Strabismus
2010
;47 Online:e1-4.
31.
Mall
V
,
Heinen
F
,
Uhl
M
,
Wellens
E
,
Korinthenberg
R
.
CNS lipoma in patients with epidermal nevus syndrome
.
Neuropediatrics
.
2000
Aug
;
31
(
4
):
175
9
.
[PubMed]
0174-304X
32.
Mollica
F
,
Pavone
L
,
Nuciforo
G
.
Linear sebaceous nevus syndrome in a newborn
.
Am J Dis Child
.
1974
Dec
;
128
(
6
):
868
71
.
[PubMed]
0002-922X
33.
Moskowitz
R
,
Honig
PJ
.
Nevus sebaceus in association with an intracranial mass
.
J Am Acad Dermatol
.
1982
Jun
;
6
(
6
):
1078
80
.
[PubMed]
0190-9622
34.
Mullaney
PB
,
Weatherhead
RG
.
Epidermal nevus syndrome associated with a complex choristoma and a bilateral choroidal osteoma
.
Arch Ophthalmol
.
1996
Oct
;
114
(
10
):
1292
3
.
[PubMed]
0003-9950
35.
Okumura
A
,
Lee
T
,
Ikeno
M
,
Shimojima
K
,
Kajino
K
,
Inoue
Y
, et al
A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma
.
Brain Dev
.
2012
Nov
;
34
(
10
):
881
5
.
[PubMed]
0387-7604
36.
Park
JM
,
Kim
DS
,
Kim
J
,
Lee
MG
,
Oh
SH
.
Epibulbar complex choristoma and hemimegalencephaly in linear sebaceous naevus syndrome
.
Clin Exp Dermatol
.
2009
Dec
;
34
(
8
):
e686
9
.
[PubMed]
0307-6938
37.
Rizzo
R
,
Pavone
P
.
Nevus Sebaceous and Its Association With Neurologic Involvement
.
Semin Pediatr Neurol
.
2015
Dec
;
22
(
4
):
302
9
.
[PubMed]
1071-9091
38.
Seawright
AA
,
Sullivan
TJ
,
Pelekanos
JT
,
Masel
J
.
Coexistent orbital and cerebellar venous anomalies in linear sebaceous naevus syndrome
.
Aust N Z J Ophthalmol
.
1996
Nov
;
24
(
4
):
373
6
.
[PubMed]
0814-9763
39.
Sharma
R
,
Singal
A
,
Verma
P
,
Rohatgi
J
,
Sharma
S
.
Epidermal nevus syndrome associated with unusual neurological, ocular, and skeletal features
.
Indian J Dermatol Venereol Leprol
.
2012
Jul-Aug
;
78
(
4
):
480
3
.
[PubMed]
0378-6323
40.
Shields
CN
,
Shields
CL
,
Lin
CJ
,
Menacker
SJ
,
Shields
JA
: Calcified scleral choristoma in organoid nevus syndrome simulating retinoblastoma. J Pediatr Ophthalmol Strabismus
2014
;51 Online:e1-3.
41.
Watanabe
Y
,
Shido
K
,
Niihori
T
,
Niizuma
H
,
Katata
Y
,
Iizuka
C
, et al
Somatic BRAF c.1799T[{GT}]A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities
.
Am J Med Genet A
.
2016
Jan
;
170A
(
1
):
189
94
.
[PubMed]
1552-4825
42.
Yan
J
,
Qiu
H
,
Li
Y
.
Linear nevus sebaceous syndrome associated with choroidal hemangioma
.
Orbit
.
2007
Dec
;
26
(
4
):
331
5
.
[PubMed]
0167-6830
43.
Kuroda
Y
,
Ohashi
I
,
Enomoto
Y
,
Naruto
T
,
Baba
N
,
Tanaka
Y
, et al
A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome
.
Am J Med Genet A
.
2015
Sep
;
167A
(
9
):
2223
5
.
[PubMed]
1552-4825
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.