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Lymphatic malformation(LM)

MedGen UID:
140763
•Concept ID:
C0398368
•
Anatomical Abnormality
Synonyms: Hereditary lymphedema; LM
SNOMED CT: Lymphatic malformation (234095009)
 
Monarch Initiative: MONDO:0019313
OMIM® Phenotypic series: PS153100

Definition

Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts and lymphatic-system malformation. [from MONDO]

Professional guidelines

PubMed

Review of diagnosis, differential diagnosis, and management of retroperitoneal lymphangioma.
Hoang VT, Nguyen MD, Van HAT, Hoang DT
Jpn J Radiol 2023 Mar;41(3):283-301. Epub 2022 Nov 3 doi: 10.1007/s11604-022-01356-0. PMID: 36327088
Lymphatic malformations: diagnosis and management.
Elluru RG, Balakrishnan K, Padua HM
Semin Pediatr Surg 2014 Aug;23(4):178-85. Epub 2014 Jul 15 doi: 10.1053/j.sempedsurg.2014.07.002. PMID: 25241095
Management of lymphatic malformations.
Greene AK, Perlyn CA, Alomari AI
Clin Plast Surg 2011 Jan;38(1):75-82. doi: 10.1016/j.cps.2010.08.006. PMID: 21095473

Recent clinical studies

Etiology

How we approach localized vascular anomalies.
Pahl KS, Pabon-Ramos WM, Jeng MR
Pediatr Blood Cancer 2022 Aug;69 Suppl 3:e29321. doi: 10.1002/pbc.29321. PMID: 36070210
Lymphatic and Mixed Malformations.
Hathaway BA, Radu S, Wilson J, Nauta AC
Lymphat Res Biol 2021 Feb;19(1):41-50. Epub 2021 Jan 25 doi: 10.1089/lrb.2020.0100. PMID: 33493408
Surgical Considerations in Vascular Malformations.
Johnson AB, Richter GT
Tech Vasc Interv Radiol 2019 Dec;22(4):100635. Epub 2019 Sep 25 doi: 10.1016/j.tvir.2019.100635. PMID: 31864534
Vascular Anomalies.
Johnson AB, Richter GT
Clin Perinatol 2018 Dec;45(4):737-749. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.010. PMID: 30396415
Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies.
Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee
Pediatrics 2015 Jul;136(1):e203-14. Epub 2015 Jun 8 doi: 10.1542/peds.2014-3673. PMID: 26055853

Diagnosis

Vascular anomalies: clinical perspectives.
Amaral JG, Lara-Corrales I
Pediatr Radiol 2022 Feb;52(2):249-261. Epub 2022 Jan 5 doi: 10.1007/s00247-021-05260-z. PMID: 34984511
Lymphatic and Mixed Malformations.
Hathaway BA, Radu S, Wilson J, Nauta AC
Lymphat Res Biol 2021 Feb;19(1):41-50. Epub 2021 Jan 25 doi: 10.1089/lrb.2020.0100. PMID: 33493408
Lymphatic malformations.
Kulungowski AM, Patel M
Semin Pediatr Surg 2020 Oct;29(5):150971. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150971. PMID: 33069296
Abdominal lymphatic malformations.
Wohlgemuth WA, Brill R, Dendl LM, Stangl F, Stoevesandt D, Schreyer AG
Radiologe 2018 Nov;58(Suppl 1):29-33. doi: 10.1007/s00117-017-0337-5. PMID: 29796772
Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies.
Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee
Pediatrics 2015 Jul;136(1):e203-14. Epub 2015 Jun 8 doi: 10.1542/peds.2014-3673. PMID: 26055853

Therapy

Efficacy of sirolimus in children with lymphatic malformations of the head and neck.
Wiegand S, Dietz A, Wichmann G
Eur Arch Otorhinolaryngol 2022 Aug;279(8):3801-3810. Epub 2022 May 8 doi: 10.1007/s00405-022-07378-8. PMID: 35526176Free PMC Article
Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.
Maruani A, Tavernier E, Boccara O, Mazereeuw-Hautier J, Leducq S, Bessis D, Guibaud L, Vabres P, Carmignac V, Mallet S, Barbarot S, Chiaverini C, Droitcourt C, Bursztejn AC, Lengellé C, Woillard JB, Herbreteau D, Le Touze A, Joly A, Léauté-Labrèze C, Powell J, Bourgoin H, Gissot V, Giraudeau B, Morel B
JAMA Dermatol 2021 Nov 1;157(11):1289-1298. doi: 10.1001/jamadermatol.2021.3459. PMID: 34524406Free PMC Article
Surgical Considerations in Vascular Malformations.
Johnson AB, Richter GT
Tech Vasc Interv Radiol 2019 Dec;22(4):100635. Epub 2019 Sep 25 doi: 10.1016/j.tvir.2019.100635. PMID: 31864534
Update on orbital lymphatic malformations.
Lally SE
Curr Opin Ophthalmol 2016 Sep;27(5):413-5. doi: 10.1097/ICU.0000000000000291. PMID: 27219273
Head and neck vascular lesions.
Hoff SR, Rastatter JC, Richter GT
Otolaryngol Clin North Am 2015 Feb;48(1):29-45. doi: 10.1016/j.otc.2014.09.004. PMID: 25439548

Prognosis

Multimodality treatment of vascular anomalies of the head and neck.
Dorrity J, Mack J, Wong K, Richter GT
J Oral Pathol Med 2022 Nov;51(10):860-871. Epub 2022 Jul 25 doi: 10.1111/jop.13322. PMID: 35674677
Potential biomarkers of kaposiform lymphangiomatosis.
Ozeki M, Nozawa A, Kawamoto N, Fujino A, Hirakawa S, Fukao T
Pediatr Blood Cancer 2019 Sep;66(9):e27878. Epub 2019 Jun 17 doi: 10.1002/pbc.27878. PMID: 31207041
Vascular Anomalies.
Johnson AB, Richter GT
Clin Perinatol 2018 Dec;45(4):737-749. Epub 2018 Sep 18 doi: 10.1016/j.clp.2018.07.010. PMID: 30396415
Vascular Anomalies in Pediatrics.
Foley LS, Kulungowski AM
Adv Pediatr 2015 Aug;62(1):227-55. doi: 10.1016/j.yapd.2015.04.009. PMID: 26205116
Head and neck vascular lesions.
Hoff SR, Rastatter JC, Richter GT
Otolaryngol Clin North Am 2015 Feb;48(1):29-45. doi: 10.1016/j.otc.2014.09.004. PMID: 25439548

Clinical prediction guides

Lymphatic disorders caused by mosaic, activating KRAS variants respond to MEK inhibition.
Sheppard SE, March ME, Seiler C, Matsuoka LS, Kim SE, Kao C, Rubin AI, Battig MR, Khalek N, Schindewolf E, O'Connor N, Pinto E, Priestley JR, Sanders VR, Niazi R, Ganguly A, Hou C, Slater D, Frieden IJ, Huynh T, Shieh JT, Krantz ID, Guerrero JC, Surrey LF, Biko DM, Laje P, Castelo-Soccio L, Nakano TA, Snyder K, Smith CL, Li D, Dori Y, Hakonarson H
JCI Insight 2023 May 8;8(9) doi: 10.1172/jci.insight.155888. PMID: 37154160Free PMC Article
Curettage and sclerotherapy technique: A hybrid approach to superficial lymphatic malformation.
Wang H, Zhou J, Lin W, Xie C, Yang W, Guo Z
Pediatr Dermatol 2023 Mar;40(2):265-269. Epub 2022 Nov 29 doi: 10.1111/pde.15202. PMID: 36444750
Sirolimus (Rapamycin) for Slow-Flow Malformations in Children: The Observational-Phase Randomized Clinical PERFORMUS Trial.
Maruani A, Tavernier E, Boccara O, Mazereeuw-Hautier J, Leducq S, Bessis D, Guibaud L, Vabres P, Carmignac V, Mallet S, Barbarot S, Chiaverini C, Droitcourt C, Bursztejn AC, Lengellé C, Woillard JB, Herbreteau D, Le Touze A, Joly A, Léauté-Labrèze C, Powell J, Bourgoin H, Gissot V, Giraudeau B, Morel B
JAMA Dermatol 2021 Nov 1;157(11):1289-1298. doi: 10.1001/jamadermatol.2021.3459. PMID: 34524406Free PMC Article
Lymphatic malformations.
Kulungowski AM, Patel M
Semin Pediatr Surg 2020 Oct;29(5):150971. Epub 2020 Sep 16 doi: 10.1016/j.sempedsurg.2020.150971. PMID: 33069296
Pediatric lymphatic malformations: evolving understanding and therapeutic options.
Defnet AM, Bagrodia N, Hernandez SL, Gwilliam N, Kandel JJ
Pediatr Surg Int 2016 May;32(5):425-33. Epub 2016 Jan 27 doi: 10.1007/s00383-016-3867-4. PMID: 26815877

Recent systematic reviews

Sirolimus for Pediatric Cervicofacial Lymphatic Malformation: A Systematic Review and Meta-Analysis.
Kamhieh Y, Mitra R, Burnett T, Jones H, Roblin G, Hall A
Laryngoscope 2024 May;134(5):2038-2047. Epub 2023 Oct 9 doi: 10.1002/lary.31091. PMID: 37812168
Sirolimus treatment for paediatric head and neck lymphatic malformations: a systematic review.
Saibene AM, Rosso C, Felisati G, Pignataro L, Schindler A, Ghilardi G, Colletti G, Gaffuri M, Mozzanica F
Eur Arch Otorhinolaryngol 2023 Aug;280(8):3529-3540. Epub 2023 Apr 28 doi: 10.1007/s00405-023-07991-1. PMID: 37115326Free PMC Article
Efficacy of sirolimus in children with lymphatic malformations of the head and neck.
Wiegand S, Dietz A, Wichmann G
Eur Arch Otorhinolaryngol 2022 Aug;279(8):3801-3810. Epub 2022 May 8 doi: 10.1007/s00405-022-07378-8. PMID: 35526176Free PMC Article
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
Head and neck lymphatic malformation treatment: a systematic review.
Adams MT, Saltzman B, Perkins JA
Otolaryngol Head Neck Surg 2012 Oct;147(4):627-39. Epub 2012 Jul 11 doi: 10.1177/0194599812453552. PMID: 22785242

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