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Fibrosis-neurodegeneration-cerebral angiomatosis syndrome

MedGen UID:
1001865
•Concept ID:
CN322814
•
Disease or Syndrome
Synonyms: fibrosis-neurodegeneration-cerebral angiomatosis syndrome; FINCA; Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome
 
Monarch Initiative: MONDO:0850090
Orphanet: ORPHA621758

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFibrosis-neurodegeneration-cerebral angiomatosis syndrome

Professional guidelines

PubMed

Port-wine Birthmarks: Update on Diagnosis, Risk Assessment for Sturge-Weber Syndrome, and Management.
Poliner A, Fernandez Faith E, Blieden L, Kelly KM, Metry D
Pediatr Rev 2022 Sep 1;43(9):507-516. doi: 10.1542/pir.2021-005437. PMID: 36045161
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: 34153815Free 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: 33175124Free PMC Article

Recent clinical studies

Etiology

Updates on Sturge-Weber Syndrome.
Yeom S, Comi AM
Stroke 2022 Dec;53(12):3769-3779. Epub 2022 Oct 20 doi: 10.1161/STROKEAHA.122.038585. PMID: 36263782Free PMC Article
Port-wine Birthmarks: Update on Diagnosis, Risk Assessment for Sturge-Weber Syndrome, and Management.
Poliner A, Fernandez Faith E, Blieden L, Kelly KM, Metry D
Pediatr Rev 2022 Sep 1;43(9):507-516. doi: 10.1542/pir.2021-005437. PMID: 36045161
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: 33175124Free PMC Article
Klippel-Trenaunay Syndrome.
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
Sturge-Weber syndrome.
Comi AM
Handb Clin Neurol 2015;132:157-68. doi: 10.1016/B978-0-444-62702-5.00011-1. PMID: 26564078

Diagnosis

Updates on Sturge-Weber Syndrome.
Yeom S, Comi AM
Stroke 2022 Dec;53(12):3769-3779. Epub 2022 Oct 20 doi: 10.1161/STROKEAHA.122.038585. PMID: 36263782Free PMC Article
Capillary Malformations.
Escobar K, Pandher K, Jahnke MN
Dermatol Clin 2022 Oct;40(4):425-433. Epub 2022 Sep 16 doi: 10.1016/j.det.2022.06.005. PMID: 36243429
Port-wine Birthmarks: Update on Diagnosis, Risk Assessment for Sturge-Weber Syndrome, and Management.
Poliner A, Fernandez Faith E, Blieden L, Kelly KM, Metry D
Pediatr Rev 2022 Sep 1;43(9):507-516. doi: 10.1542/pir.2021-005437. PMID: 36045161
Sturge-Weber Syndrome: A Review.
Higueros E, Roe E, Granell E, Baselga E
Actas Dermosifiliogr 2017 Jun;108(5):407-417. Epub 2017 Jan 23 doi: 10.1016/j.ad.2016.09.022. PMID: 28126187
Von Hippel-Lindau Syndrome.
Ben-Skowronek I, Kozaczuk S
Horm Res Paediatr 2015;84(3):145-52. Epub 2015 Aug 5 doi: 10.1159/000431323. PMID: 26279462

Therapy

Sirolimus Treatment in Sturge-Weber Syndrome.
Sebold AJ, Day AM, Ewen J, Adamek J, Byars A, Cohen B, Kossoff EH, Mizuno T, Ryan M, Sievers J, Smegal L, Suskauer SJ, Thomas C, Vinks A, Zabel TA, Hammill AM, Comi AM
Pediatr Neurol 2021 Feb;115:29-40. Epub 2020 Nov 2 doi: 10.1016/j.pediatrneurol.2020.10.013. PMID: 33316689Free 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: 33175124Free PMC Article
Klippel-Trenaunay Syndrome.
John PR
Tech Vasc Interv Radiol 2019 Dec;22(4):100634. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100634. PMID: 31864529
Sturge-Weber Syndrome: A Review.
Higueros E, Roe E, Granell E, Baselga E
Actas Dermosifiliogr 2017 Jun;108(5):407-417. Epub 2017 Jan 23 doi: 10.1016/j.ad.2016.09.022. PMID: 28126187
Islet Cell Tumors of the Pancreas.
Amin S, Kim MK
Gastroenterol Clin North Am 2016 Mar;45(1):83-100. Epub 2016 Jan 13 doi: 10.1016/j.gtc.2015.10.007. PMID: 26895682

Prognosis

Orthopedic issues in vascular anomalies.
Spencer SA, Sorger JI
Semin Pediatr Surg 2020 Oct;29(5):150973. Epub 2020 Sep 19 doi: 10.1016/j.sempedsurg.2020.150973. PMID: 33069292
Sturge-Weber Syndrome: A Review.
Higueros E, Roe E, Granell E, Baselga E
Actas Dermosifiliogr 2017 Jun;108(5):407-417. Epub 2017 Jan 23 doi: 10.1016/j.ad.2016.09.022. PMID: 28126187
Von Hippel-Lindau Syndrome.
Ben-Skowronek I, Kozaczuk S
Horm Res Paediatr 2015;84(3):145-52. Epub 2015 Aug 5 doi: 10.1159/000431323. PMID: 26279462
Hereditary paragangliomas.
Raygada M, Pasini B, Stratakis CA
Adv Otorhinolaryngol 2011;70:99-106. Epub 2011 Feb 24 doi: 10.1159/000322484. PMID: 21358191Free PMC Article
Cancer and the kidney.
Keaney CM, Springate JE
Adolesc Med Clin 2005 Feb;16(1):121-48. doi: 10.1016/j.admecli.2004.09.012. PMID: 15844387

Clinical prediction guides

Gastrointestinal involvement in Klippel-Trénaunay syndrome: pathophysiology, evaluation, and management.
Wang H, Lin W, Xie C, Yang W, Zhou J, Guo Z
Orphanet J Rare Dis 2023 Sep 12;18(1):288. doi: 10.1186/s13023-023-02857-5. PMID: 37700367Free PMC Article
Hemangioblastomas and Other Vascular Origating Tumors of Brain or Spinal Cord.
Vetrano IG, Gioppo A, Faragò G, Pinzi V, Pollo B, Broggi M, Schiariti M, Ferroli P, Acerbi F
Adv Exp Med Biol 2023;1405:377-403. doi: 10.1007/978-3-031-23705-8_14. PMID: 37452946
Sirolimus Treatment in Sturge-Weber Syndrome.
Sebold AJ, Day AM, Ewen J, Adamek J, Byars A, Cohen B, Kossoff EH, Mizuno T, Ryan M, Sievers J, Smegal L, Suskauer SJ, Thomas C, Vinks A, Zabel TA, Hammill AM, Comi AM
Pediatr Neurol 2021 Feb;115:29-40. Epub 2020 Nov 2 doi: 10.1016/j.pediatrneurol.2020.10.013. PMID: 33316689Free PMC Article
A Multidisciplinary Consensus for Clinical Care and Research Needs for Sturge-Weber Syndrome.
De la Torre AJ, Luat AF, Juhász C, Ho ML, Argersinger DP, Cavuoto KM, Enriquez-Algeciras M, Tikkanen S, North P, Burkhart CN, Chugani HT, Ball KL, Pinto AL, Loeb JA
Pediatr Neurol 2018 Jul;84:11-20. Epub 2018 Apr 18 doi: 10.1016/j.pediatrneurol.2018.04.005. PMID: 29803545Free PMC Article
Neuropathology.
Mischel PS, Vinters HV
Neurosurg Clin N Am 1995 Jul;6(3):565-79. PMID: 7670329

Recent systematic reviews

Headache in Sturge-Weber syndrome: A systematic review.
Ferretti A, Muscianese M, Fanfoni C, Bellone G, Mennini M, Di Nardo G, Abdolrahimzadeh S, De Marco G, Orsini A, Foiadelli T, Frattale I, Valeriani M, Parisi P
Cephalalgia 2024 Jul;44(7):3331024241265881. doi: 10.1177/03331024241265881. PMID: 39043228
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
Pathophysiology, diagnosis, and management of glaucoma associated with Sturge-Weber syndrome.
Javaid U, Ali MH, Jamal S, Butt NH
Int Ophthalmol 2018 Feb;38(1):409-416. Epub 2017 Jan 7 doi: 10.1007/s10792-016-0412-3. PMID: 28064423
Parkes Weber syndrome-Diagnostic and management paradigms: A systematic review.
Banzic I, Brankovic M, Maksimović Ž, Davidović L, Marković M, Rančić Z
Phlebology 2017 Jul;32(6):371-383. Epub 2016 Aug 9 doi: 10.1177/0268355516664212. PMID: 27511883
Visual outcome in Sturge-Weber syndrome: a systematic review and Dutch multicentre cohort.
Koenraads Y, van Egmond-Ebbeling MB, de Boer JH, Imhof SM, Braun KP, Porro GL; SWS study group
Acta Ophthalmol 2016 Nov;94(7):638-645. Epub 2016 May 30 doi: 10.1111/aos.13074. PMID: 27238857

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