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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]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNeurocutaneous syndrome

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Disorder by Site
      - Disorder of nervous system
        Neurocutaneous syndrome
        Ataxia-telangiectasia syndrome
        Gorlin syndrome
        Linear nevus sebaceous syndrome
        Neurofibromatosis
        Aggravated Neurofibromatosis
        Neurofibroma by anatomical location
        Cardiac neurofibroma
        Gastric neurofibroma
        Paraspinal neurofibroma
        Renal neurofibroma
        Spinal neurofibroma
        Subcutaneous neurofibroma
        Tongue neurofibroma
        Neurofibromatosis, type 1
        Chromosome 17q11.2 deletion syndrome, 1.4Mb
        Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
        Neurofibromatosis Type 1 with Inoperable, Progressive, Symptomatic Plexiform Neurofibromas
        Recurrent Neurofibromatosis Type 1
        Refractory Neurofibromatosis Type 1
        Neurofibromatosis, type 2
        Neurofibromatosis, type IV, of Riccardi
        Plexiform neurofibroma
        Unresectable Plexiform Neurofibroma
        Sturge-Weber syndrome
        Tuberous sclerosis syndrome
        Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
        Tuberous sclerosis 1
        Tuberous sclerosis 2
        Von Hippel-Lindau syndrome

Professional guidelines

PubMed

Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations.

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: 34153815 Free PMC Article

Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome.

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: 33175124 Free PMC Article

Neurofibromatosis type 1: New developments in genetics and treatment.

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

See all (11)

Recent clinical studies

Etiology

Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations.

Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome.

Tuberous Sclerosis Complex: A Review.

Randle SC
Pediatr Ann 2017 Apr 1;46(4):e166-e171. doi: 10.3928/19382359-20170320-01. PMID: 28414398

Neurocutaneous syndromes.

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

Neurocutaneous melanosis.

Islam MP
Handb Clin Neurol 2015;132:111-7. doi: 10.1016/B978-0-444-62702-5.00007-X. PMID: 26564074

See all (66)

Diagnosis

Consensus Statement for the Management and Treatment of Sturge-Weber Syndrome: Neurology, Neuroimaging, and Ophthalmology Recommendations.

Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis.

Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574 Free PMC Article

Neurofibromatosis type 1: New developments in genetics and treatment.

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

Intracranial calcifications in childhood: Part 1.

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

Tuberous Sclerosis Complex: A Review.

Randle SC
Pediatr Ann 2017 Apr 1;46(4):e166-e171. doi: 10.3928/19382359-20170320-01. PMID: 28414398

See all (195)

Therapy

Expert consensus on screening, diagnosis and treatment of multiple carboxylase deficiency.

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: 35576117 Free PMC Article

Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis.

Tamura R
Int J Mol Sci 2021 May 29;22(11) doi: 10.3390/ijms22115850. PMID: 34072574 Free PMC Article

Consensus Statement for the Management and Treatment of Port-Wine Birthmarks in Sturge-Weber Syndrome.

Neurofibromatosis type 1: New developments in genetics and treatment.

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

Neurocutaneous Syndromes and Brain Tumors.

Ullrich NJ
J Child Neurol 2016 Oct;31(12):1399-411. Epub 2015 Oct 12 doi: 10.1177/0883073815604220. PMID: 26459515

See all (29)

Prognosis

Tuberous Sclerosis Complex: A Review.

Randle SC
Pediatr Ann 2017 Apr 1;46(4):e166-e171. doi: 10.3928/19382359-20170320-01. PMID: 28414398

Neurocutaneous melanosis.

Islam MP
Handb Clin Neurol 2015;132:111-7. doi: 10.1016/B978-0-444-62702-5.00007-X. PMID: 26564074

Sturge-Weber syndrome: from the past to the present.

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

Sturge-Weber syndrome.

Nabbout R, Juhász C
Handb Clin Neurol 2013;111:315-21. doi: 10.1016/B978-0-444-52891-9.00037-3. PMID: 23622182

Encephalocraniocutaneous lipomatosis.

Gawel J, Schwartz RA, Józwiak S
J Cutan Med Surg 2003 Jan-Feb;7(1):61-5. Epub 2002 Oct 9 doi: 10.1007/s10227-002-1142-x. PMID: 12362260

See all (49)

Clinical prediction guides

Neurocutaneous Syndromes, Perinatal Factors, and the Risk of Childhood Cancer in Sweden.

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: 37490289 Free PMC Article

Sleep Problems in Children With Neurocutaneous Syndromes: A Cross-Sectional Study.

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

An Update on Neurofibromatosis Type 1: Not Just Café-au-Lait Spots, Freckling, and Neurofibromas. An Update. Part I. Dermatological Clinical Criteria Diagnostic of the Disease.

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

Neurofibromatosis type 1 (NF1) and associated tumors.

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

Elejalde syndrome--a melanolysosomal neurocutaneous syndrome: clinical and morphological findings in 7 patients.

Duran-McKinster C, Rodriguez-Jurado R, Ridaura C, de la Luz Orozco-Covarrubias M, Tamayo L, Ruiz-Maldonando R
Arch Dermatol 1999 Feb;135(2):182-6. doi: 10.1001/archderm.135.2.182. PMID: 10052404

See all (46)

Recent systematic reviews

Bone mineral density, vitamin D and osseous metabolism indices in neurofibromatosis type 1: A systematic review and meta-analysis.

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

Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience.

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

Auriculotemporal Frey syndrome not associated with surgery or diabetes: systematic review.

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: 35182195 Free PMC Article

Is cutis verticis Gyrata-Intellectual Disability syndrome an underdiagnosed condition? A case report and review of 62 cases.

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

See all (4)

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Neurocutaneous syndrome

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Clinical resources

Practice guidelines

Consumer resources

Reviews

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