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Diffuse lymphatic malformation

MedGen UID:
825766
Concept ID:
C3839921
Anatomical Abnormality
Synonyms: Diffuse lymphangioma; diffuse lymphangioma; Diffuse lymphangiomatosis; diffuse lymphangiomatosis; diffuse lymphatic malformation; Disseminated lymphangioma; disseminated lymphangioma; Disseminated lymphangiomatosis; disseminated lymphangiomatosis; Disseminated lymphatic malformation; disseminated lymphatic malformation; generalised lymphatic anomaly; Generalized lymphatic anomaly; generalized lymphatic anomaly; GLA; Gla
SNOMED CT: Diffuse lymphatic malformation (703298001)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0015408
Orphanet: ORPHA141209

Definition

A rare developmental defect during embryogenesis characterized by multifocal dilated lymphatic vessels involving multiple organs and tissues. Patients mostly present in infancy and childhood. Clinical course and prognosis depend on the affected sites and extent of the condition, deterioration of lung function being a major cause of morbidity and mortality. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Diffuse lymphatic malformation

Professional guidelines

PubMed

Meng MM, Liu KL, Xue XY, Hao K, Dong J, Yu CK, Liu H, Wang CH, Su H, Lin W, Jiang GJ, Wei N, Wang RG, Shen WB, Wu J
World J Gastroenterol 2022 Jun 14;28(22):2482-2493. doi: 10.3748/wjg.v28.i22.2482. PMID: 35979262Free PMC Article
Snyder EJ, Sarma A, Borst AJ, Tekes A
AJR Am J Roentgenol 2022 Jun;218(6):1089-1101. Epub 2022 Jan 19 doi: 10.2214/AJR.21.27200. PMID: 35043669
Expert Panel on Vascular Imaging, Obara P, McCool J, Kalva SP, Majdalany BS, Collins JD, Eldrup-Jorgensen J, Ganguli S, Gunn AJ, Kendi AT, Khaja MS, Sutphin PD, Vijay K, Dill KE
J Am Coll Radiol 2019 Nov;16(11S):S340-S347. doi: 10.1016/j.jacr.2019.05.013. PMID: 31685102

Recent clinical studies

Etiology

Kim H, Han BK, Ko EY, Ko ES, Choi JS
Medicine (Baltimore) 2022 Dec 16;101(50):e31836. doi: 10.1097/MD.0000000000031836. PMID: 36550794Free PMC Article
Zöller D, Sandini C, Schaer M, Eliez S, Bassett DS, Van De Ville D
Hum Brain Mapp 2021 May;42(7):2181-2200. Epub 2021 Feb 10 doi: 10.1002/hbm.25358. PMID: 33566395Free PMC Article
Boot E, van Amelsvoort TA
Curr Top Med Chem 2012;12(21):2303-13. doi: 10.2174/156802612805289854. PMID: 23279171
Laharie D, Degenne V, Laharie H, Cazorla S, Belleannee G, Couzigou P, Amouretti M
Eur J Gastroenterol Hepatol 2005 Dec;17(12):1417-9. doi: 10.1097/00042737-200512000-00024. PMID: 16292099
Pugatch RD, Faling LJ, Robbins AH, Spira R
AJR Am J Roentgenol 1980 Apr;134(4):685-94. doi: 10.2214/ajr.134.4.685. PMID: 6767352

Diagnosis

Snyder EJ, Sarma A, Borst AJ, Tekes A
AJR Am J Roentgenol 2022 Jun;218(6):1089-1101. Epub 2022 Jan 19 doi: 10.2214/AJR.21.27200. PMID: 35043669
Cheung SSL, Lam SC, Yuen HKL
Ophthalmic Plast Reconstr Surg 2021 May-Jun 01;37(3S):S154-S156. doi: 10.1097/IOP.0000000000001830. PMID: 32890117
Klosterman T, O TM
Otolaryngol Clin North Am 2018 Feb;51(1):213-223. doi: 10.1016/j.otc.2017.09.013. PMID: 29217064
Tylee DS, Kikinis Z, Quinn TP, Antshel KM, Fremont W, Tahir MA, Zhu A, Gong X, Glatt SJ, Coman IL, Shenton ME, Kates WR, Makris N
Neuroimage Clin 2017;15:832-842. Epub 2017 May 11 doi: 10.1016/j.nicl.2017.04.029. PMID: 28761808Free PMC Article
Pugatch RD, Faling LJ, Robbins AH, Spira R
AJR Am J Roentgenol 1980 Apr;134(4):685-94. doi: 10.2214/ajr.134.4.685. PMID: 6767352

Therapy

Itkin M, Rabinowitz DA, Nadolski G, Stafler P, Mascarenhas L, Adams D
Chest 2020 Aug;158(2):681-691. Epub 2020 Mar 24 doi: 10.1016/j.chest.2020.02.058. PMID: 32220591
Maurac A, Debray MP, Crestani B, Taillé C
BMJ Case Rep 2019 Apr 23;12(4) doi: 10.1136/bcr-2018-228523. PMID: 31015245Free PMC Article
Devon RK, Rosen MA, Mies C, Orel SG
Radiographics 2004 Sep-Oct;24(5):1287-99. doi: 10.1148/rg.245035734. PMID: 15371609
Broder S, Callihan TR, Jaffe ES, DeVita VT, Strober W, Bartter FC, Waldmann TA
Gastroenterology 1981 Jan;80(1):166-8. PMID: 7450403
Femppel J, Lux G, Kaduk B, Roesch W
Endoscopy 1978 Feb;10(1):44-6. doi: 10.1055/s-0028-1098260. PMID: 631094

Prognosis

Vakharia JD, Goldsweig B, Rogg JM, Topor LS
J Pediatr 2017 Jul;186:207-207.e1. Epub 2017 Apr 18 doi: 10.1016/j.jpeds.2017.03.042. PMID: 28427777
Raithel M, Rau TT, Hagel AF, Albrecht H, de Rossi T, Kirchner T, Hahn EG
World J Gastroenterol 2015 Sep 28;21(36):10461-7. doi: 10.3748/wjg.v21.i36.10461. PMID: 26420973Free PMC Article
Maxwell F, de Margerie Mellon C, Bricout M, Cauderlier E, Chapelier M, Albiter M, Bourrier P, Espié M, de Kerviler E, de Bazelaire C
Diagn Interv Imaging 2015 Oct;96(10):1089-101. Epub 2015 Sep 12 doi: 10.1016/j.diii.2015.07.007. PMID: 26372221
Laharie D, Degenne V, Laharie H, Cazorla S, Belleannee G, Couzigou P, Amouretti M
Eur J Gastroenterol Hepatol 2005 Dec;17(12):1417-9. doi: 10.1097/00042737-200512000-00024. PMID: 16292099
Michalas S, Creatsas G, Deligeoroglou E, Markaki S
Gynecol Oncol 1994 Jul;54(1):95-8. doi: 10.1006/gyno.1994.1173. PMID: 8020847

Clinical prediction guides

Kim H, Han BK, Ko EY, Ko ES, Choi JS
Medicine (Baltimore) 2022 Dec 16;101(50):e31836. doi: 10.1097/MD.0000000000031836. PMID: 36550794Free PMC Article
Maurac A, Debray MP, Crestani B, Taillé C
BMJ Case Rep 2019 Apr 23;12(4) doi: 10.1136/bcr-2018-228523. PMID: 31015245Free PMC Article
Tylee DS, Kikinis Z, Quinn TP, Antshel KM, Fremont W, Tahir MA, Zhu A, Gong X, Glatt SJ, Coman IL, Shenton ME, Kates WR, Makris N
Neuroimage Clin 2017;15:832-842. Epub 2017 May 11 doi: 10.1016/j.nicl.2017.04.029. PMID: 28761808Free PMC Article
Raithel M, Rau TT, Hagel AF, Albrecht H, de Rossi T, Kirchner T, Hahn EG
World J Gastroenterol 2015 Sep 28;21(36):10461-7. doi: 10.3748/wjg.v21.i36.10461. PMID: 26420973Free PMC Article
Deng Y, Goodrich-Hunsaker NJ, Cabaral M, Amaral DG, Buonocore MH, Harvey D, Kalish K, Carmichael OT, Schumann CM, Lee A, Dougherty RF, Perry LM, Wandell BA, Simon TJ
Psychiatry Res 2015 Apr 30;232(1):106-14. Epub 2015 Feb 11 doi: 10.1016/j.pscychresns.2015.02.002. PMID: 25748884Free PMC Article

Recent systematic reviews

Momtazmanesh S, Aarabi MH, Sanjari Moghaddam H, Delavari F, Shafie M, Abbasi-Feijani F, Cattarinussi G, Sambataro F
Eur Neuropsychopharmacol 2021 Nov;52:96-135. Epub 2021 Aug 4 doi: 10.1016/j.euroneuro.2021.07.004. PMID: 34358796

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