U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Neurocutaneous syndrome

MedGen UID:
82706
Concept ID:
C0265316
Disease or Syndrome
Synonyms: Neurocutaneous Disorder; Neurocutaneous Disorders; Neurocutaneous Syndrome; Neurocutaneous Syndromes; Neuroectodermal Dysplasia Syndrome; Neuroectodermal Dysplasia Syndromes; Phacomatoses; Phacomatosis; Phakomatoses; Phakomatosis; Syndrome, Neurocutaneous; Syndrome, Neuroectodermal Dysplasia; Syndromes, Neurocutaneous; Syndromes, Neuroectodermal Dysplasia
SNOMED CT: Phakomatoses (78572006); Neuroectodermal dysplasia (78572006); Neurocutaneous syndrome (78572006); Phacomatosis (78572006); Phakomatosis (78572006)
 
Monarch Initiative: MONDO:0042983

Definition

A hereditary syndrome affecting the central nervous system that is associated with lesions of the skin and retina. Representative examples include neurofibromatosis, tuberous sclerosis, von Hippel-Lindau syndrome, and Sturge-Weber syndrome. [from NCI]

Professional guidelines

PubMed

Sabeti S, Ball KL, Bhattacharya SK, Bitrian E, Blieden LS, Brandt JD, Burkhart C, Chugani HT, Falchek SJ, Jain BG, Juhasz C, Loeb JA, Luat A, Pinto A, Segal E, Salvin J, Kelly KM
Pediatr Neurol 2021 Aug;121:59-66. Epub 2021 May 6 doi: 10.1016/j.pediatrneurol.2021.04.013. PMID: 34153815Free PMC Article
Sabeti S, Ball KL, Burkhart C, Eichenfield L, Fernandez Faith E, Frieden IJ, Geronemus R, Gupta D, Krakowski AC, Levy ML, Metry D, Nelson JS, Tollefson MM, Kelly KM
JAMA Dermatol 2021 Jan 1;157(1):98-104. doi: 10.1001/jamadermatol.2020.4226. PMID: 33175124Free PMC Article
Wilson BN, John AM, Handler MZ, Schwartz RA
J Am Acad Dermatol 2021 Jun;84(6):1667-1676. Epub 2020 Aug 6 doi: 10.1016/j.jaad.2020.07.105. PMID: 32771543

Recent clinical studies

Etiology

Sabeti S, Ball KL, Bhattacharya SK, Bitrian E, Blieden LS, Brandt JD, Burkhart C, Chugani HT, Falchek SJ, Jain BG, Juhasz C, Loeb JA, Luat A, Pinto A, Segal E, Salvin J, Kelly KM
Pediatr Neurol 2021 Aug;121:59-66. Epub 2021 May 6 doi: 10.1016/j.pediatrneurol.2021.04.013. PMID: 34153815Free PMC Article
Sabeti S, Ball KL, Burkhart C, Eichenfield L, Fernandez Faith E, Frieden IJ, Geronemus R, Gupta D, Krakowski AC, Levy ML, Metry D, Nelson JS, Tollefson MM, Kelly KM
JAMA Dermatol 2021 Jan 1;157(1):98-104. doi: 10.1001/jamadermatol.2020.4226. PMID: 33175124Free PMC Article
Randle SC
Pediatr Ann 2017 Apr 1;46(4):e166-e171. doi: 10.3928/19382359-20170320-01. PMID: 28414398
Klar N, Cohen B, Lin DDM
Handb Clin Neurol 2016;135:565-589. doi: 10.1016/B978-0-444-53485-9.00027-1. PMID: 27432683
Islam MP
Handb Clin Neurol 2015;132:111-7. doi: 10.1016/B978-0-444-62702-5.00007-X. PMID: 26564074

Diagnosis

Sabeti S, Ball KL, Bhattacharya SK, Bitrian E, Blieden LS, Brandt JD, Burkhart C, Chugani HT, Falchek SJ, Jain BG, Juhasz C, Loeb JA, Luat A, Pinto A, Segal E, Salvin J, Kelly KM
Pediatr Neurol 2021 Aug;121:59-66. Epub 2021 May 6 doi: 10.1016/j.pediatrneurol.2021.04.013. PMID: 34153815Free PMC Article
Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Wilson BN, John AM, Handler MZ, Schwartz RA
J Am Acad Dermatol 2021 Jun;84(6):1667-1676. Epub 2020 Aug 6 doi: 10.1016/j.jaad.2020.07.105. PMID: 32771543
Gonçalves FG, Caschera L, Teixeira SR, Viaene AN, Pinelli L, Mankad K, Alves CAPF, Ortiz-Gonzalez XR, Andronikou S, Vossough A
Pediatr Radiol 2020 Sep;50(10):1424-1447. Epub 2020 Jul 30 doi: 10.1007/s00247-020-04721-1. PMID: 32734340
Randle SC
Pediatr Ann 2017 Apr 1;46(4):e166-e171. doi: 10.3928/19382359-20170320-01. PMID: 28414398

Therapy

Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health, Division of Genetics and Metabolism, Rare Diseases Committee of Beijing Medical Association
Zhejiang Da Xue Xue Bao Yi Xue Ban 2022 Feb 25;51(1):129-135. doi: 10.3724/zdxbyxb-2022-0164. PMID: 35576117Free PMC Article
Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574Free PMC Article
Sabeti S, Ball KL, Burkhart C, Eichenfield L, Fernandez Faith E, Frieden IJ, Geronemus R, Gupta D, Krakowski AC, Levy ML, Metry D, Nelson JS, Tollefson MM, Kelly KM
JAMA Dermatol 2021 Jan 1;157(1):98-104. doi: 10.1001/jamadermatol.2020.4226. PMID: 33175124Free PMC Article
Wilson BN, John AM, Handler MZ, Schwartz RA
J Am Acad Dermatol 2021 Jun;84(6):1667-1676. Epub 2020 Aug 6 doi: 10.1016/j.jaad.2020.07.105. PMID: 32771543
Ullrich NJ
J Child Neurol 2016 Oct;31(12):1399-411. Epub 2015 Oct 12 doi: 10.1177/0883073815604220. PMID: 26459515

Prognosis

Alos L, Carrasco A, Teixidó C, Szumera-Ciećkiewicz A, Vicente A, Massi D, Carrera C
Pathol Res Pract 2024 Apr;256:155262. Epub 2024 Mar 11 doi: 10.1016/j.prp.2024.155262. PMID: 38518732
Randle SC
Pediatr Ann 2017 Apr 1;46(4):e166-e171. doi: 10.3928/19382359-20170320-01. PMID: 28414398
Islam MP
Handb Clin Neurol 2015;132:111-7. doi: 10.1016/B978-0-444-62702-5.00007-X. PMID: 26564074
Sudarsanam A, Ardern-Holmes SL
Eur J Paediatr Neurol 2014 May;18(3):257-66. Epub 2013 Nov 7 doi: 10.1016/j.ejpn.2013.10.003. PMID: 24275166
Nabbout R, Juhász C
Handb Clin Neurol 2013;111:315-21. doi: 10.1016/B978-0-444-52891-9.00037-3. PMID: 23622182

Clinical prediction guides

Kampitsi CE, Nordgren A, Mogensen H, Pontén E, Feychting M, Tettamanti G
JAMA Netw Open 2023 Jul 3;6(7):e2325482. doi: 10.1001/jamanetworkopen.2023.25482. PMID: 37490289Free PMC Article
Saini L, Mukherjee S, Gunasekaran PK, Malhi P, Saini AG, De D, Padhy S, Ahuja C, Suthar R, Sahu JK, Sankhyan N, Yadav J, Sharawat IK
J Child Neurol 2022 Oct;37(10-11):864-870. Epub 2022 Aug 2 doi: 10.1177/08830738221114560. PMID: 35918819
Hernández-Martín A, Duat-Rodríguez A
Actas Dermosifiliogr 2016 Jul-Aug;107(6):454-64. Epub 2016 Mar 12 doi: 10.1016/j.ad.2016.01.004. PMID: 26979265
Hernández-Martín A, Duat-Rodríguez A
Actas Dermosifiliogr 2016 Jul-Aug;107(6):465-73. Epub 2016 Mar 5 doi: 10.1016/j.ad.2016.01.009. PMID: 26956402
Rosenbaum T, Wimmer K
Klin Padiatr 2014 Nov;226(6-7):309-15. Epub 2014 Jul 25 doi: 10.1055/s-0034-1382021. PMID: 25062113

Recent systematic reviews

Kaspiris A, Vasiliadis E, Iliopoulos ID, Panagopoulos F, Melissaridou D, Lianou I, Ntourantonis D, Savvidou OD, Papadimitriou E, Pneumaticos SG
Bone 2024 Mar;180:116992. Epub 2023 Dec 21 doi: 10.1016/j.bone.2023.116992. PMID: 38141750
Grossen A, Gavula T, Chrusciel D, Evans A, McNall-Knapp R, Taylor A, Fossey B, Brakefield M, Carter C, Schwartz N, Gross N, Jea A, Desai V
Neurosurg Focus 2022 May;52(5):E2. doi: 10.3171/2022.2.FOCUS21776. PMID: 35535824
Betti C, Milani GP, Lava SAG, Bianchetti MG, Bronz G, Ramelli GP, Goeggel Simonetti B, Bergmann MM
Eur J Pediatr 2022 May;181(5):2127-2134. Epub 2022 Feb 19 doi: 10.1007/s00431-022-04415-w. PMID: 35182195Free PMC Article
Tucci A, Pezzani L, Scuvera G, Ronzoni L, Scola E, Esposito S, Milani D
Am J Med Genet A 2017 Mar;173(3):638-646. Epub 2016 Dec 25 doi: 10.1002/ajmg.a.38054. PMID: 28019079

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...