Neuroimaging manifestations of epidermal nevus syndrome

被引：4

作者：

De Vito, Andrea ^{[1
]}

Taranath, Ajay ^{[2
]}

Dahmoush, Hisham ^{[3
]}

Ganapathy, Shankar Srinivar ^{[4
]}

Sudhakar, Sniya ^{[5
]}

Mankad, Kshitij ^{[5
]}

机构：

[1] HS Gerardo Monza, Dept Neuroradiol, Monza, Italy

[2] Womens & Childrens Hosp, Dept Radiol, Adelaide, SA, Australia

[3] Stanford Univ, Dept Radiol, Lucile Packard Childrens Hosp, Sch Med, Stanford, CA 94305 USA

[4] Akron Childrens Hosp, Dept Radiol, Akron, OH 44308 USA

[5] Great Ormond St Hosp Sick Children, Dept Radiol, Great Ormond St, London WC1N 3JH, England

来源：

QUANTITATIVE IMAGING IN MEDICINE AND SURGERY | 2021年 / 11卷 / 01期

关键词：

Central nervous system diseases; hemimegalencephaly (HME); linear sebaceous nevus syndrome; OCULOECTODERMAL SYNDROME; MOSAICISM; MALFORMATION; MUTATION; VARIANT;

D O I：

10.21037/qims-20-634

中图分类号：

R8 [特种医学]; R445 [影像诊断学];

学科分类号：

1002 ; 100207 ; 1009 ;

摘要：

Epidermal nevus syndrome (ENS) represents a diverse group of rare neurocutaneous diseases associated with the presence of characteristic epidermal nevi (EN) in the skin and extracutaneous manifestations in the eyes, skeletal, urogenital and central nervous systems. We present a case series of 7 children with ENS, with specific attention to the neuroradiological characteristics of this entity.

引用

页码：415 / 422

页数：8

共 50 条

[1] Epilepsy in Neurological Phenotypes of Epidermal Nevus Syndrome
Flores-Sarnat, Laura
JOURNAL OF PEDIATRIC EPILEPSY, 2016, 5 (02) : 97 - 110
[2] Epidermal nevus syndrome associated with unusual neurological, ocular, and skeletal features
Sharma, Reena
Singal, Archana
Verma, Prashant
Rohatgi, Jolly
Sharma, Sonal
INDIAN JOURNAL OF DERMATOLOGY VENEREOLOGY & LEPROLOGY, 2012, 78 (04) : 480 - 483
[3] Keratinocytic epidermal nevus syndrome with Schwann cell proliferation, lipomatous tumour and mosaic KRAS mutation
Farschtschi, Said
Mautner, Victor-Felix
Hollants, Silke
Hagel, Christian
Spaepen, Marijke
Schulte, Christoph
Legius, Eric
Brems, Hilde
BMC MEDICAL GENETICS, 2015, 16
[4] Hemimegalencephalic variant of epidermal nevus syndrome: Case report and literature review
Pavlidis, Elena
Cantalupo, Gaetano
Boria, Sonia
Cossu, Giuseppe
Pisani, Francesco
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2012, 16 (04) : 332 - 342
[5] Systematized Organoid Epidermal Nevus With Eccrine Differentiation, Multiple Facial and Oral Congenital Scars, Gingival Synechiae, and Blepharophimosis: A Novel Epidermal Nevus Syndrome
Castori, Marco
Annessi, Giorgio
Castiglia, Daniele
Buffa, Vitaliano
Paradisi, Andrea
Cascone, Piero
Zambruno, Giovanna
Grammatico, Paola
Paradisi, Mauro
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (01) : 25 - 31
[6] An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation
Garcia-Vargas, Alejandro
Hafner, Christian
Perez-Rodriguez, Adriana G.
Rodriguez-Rojas, L. Ximena
Gonzalez-Esqueda, Pedro
Stoehr, Robert
Hernandez-Torres, Mercedes
Happle, Rudolf
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2008, 146A (17) : 2275 - 2279
[7] A severe form of epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma
Okumura, Akihisa
Lee, Tsubasa
Ikeno, Mitsuru
Shimojima, Keiko
Kajino, Kazunori
Inoue, Yuka
Yoshikawa, Naomi
Suganuma, Hiroki
Suzuki, Mitsuyoshi
Hisata, Ken
Shoji, Hiromichi
Takanashi, Jun-ichi
Barkovich, A. James
Shimizu, Toshiaki
Yamamoto, Toshiyuki
Hayashi, Masaharu
BRAIN & DEVELOPMENT, 2012, 34 (10) : 881 - 885
[8] BECKER'S NEVUS ASSOCIATED WITH EPIDERMAL NEVUS: ANOTHER EXAMPLE OF TWIN SPOTTING?
Rodriguez-Diaz, Eloy
Alvarez-Cuesta, Cesar-Cosme
Blanco, Susana
Galache, Cristina
Hidalgo, Yolanda
ACTAS DERMO-SIFILIOGRAFICAS, 2006, 97 (03): : 200 - 202
[9] Epidermal nevus syndromes: New insights into whorls and swirls
Asch, Sarah
Sugarman, Jeffrey L.
PEDIATRIC DERMATOLOGY, 2018, 35 (01) : 21 - 29
[10] Inflammatory linear verrucous epidermal nevus - case report
Misterska, Malgorzata
Szulczynska-Gabor, Joanna
Wolnik-Trzeciak, Grazyna
Walkowiak, Hanna
Zaba, Ryszard
POSTEPY DERMATOLOGII I ALERGOLOGII, 2009, 26 (02): : 110 - 113

← 1 2 3 4 5 →