U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Lymphatic malformation(LM)

MedGen UID:
140763
•Concept ID:
C0398368
•
Anatomical Abnormality
Synonym: 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

Verrucous venous malformation and lymphatic malformation, former similar phenotypes where cell-free DNA could clarify in genotype.
Sun Y, Su L, Wang D, Fan X, Cai R
J Am Acad Dermatol 2024 Jan;90(1):e27-e28. Epub 2023 Sep 17 doi: 10.1016/j.jaad.2023.07.1043. PMID: 37717726
Treatment With Topical Sirolimus for Recurrent Lymphatic Malformation of the External Urethral Meatus.
Yonekura S, Komori T, Ishida Y, Kogame T, Kabashima K
JAMA Dermatol 2022 Nov 1;158(11):1331-1332. doi: 10.1001/jamadermatol.2022.2793. PMID: 36044195
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

Recent clinical studies

Etiology

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
Fetal Evaluation and Airway Management.
Prickett K, Javia L
Clin Perinatol 2018 Dec;45(4):609-628. doi: 10.1016/j.clp.2018.07.003. PMID: 30396408
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
Primary cervical ganglioneuroblastoma.
Manjaly JG, Alexander VR, Pepper CM, Ifeacho SN, Hewitt RJ, Hartley BE
Int J Pediatr Otorhinolaryngol 2015 Jul;79(7):1007-12. Epub 2015 Apr 22 doi: 10.1016/j.ijporl.2015.04.012. PMID: 25921075

Diagnosis

Update on Vascular Anomalies of the Head and Neck.
Rosenberg TL, Phillips JD
Otolaryngol Clin North Am 2022 Dec;55(6):1215-1231. doi: 10.1016/j.otc.2022.07.019. PMID: 36371136
Trifoliate mesenteric lymphatic malformation.
Parida L
Dig Liver Dis 2022 Dec;54(12):1723-1724. Epub 2022 Jul 13 doi: 10.1016/j.dld.2022.06.026. PMID: 35840486
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
Vascular anomaly imaging mimics and differential diagnoses.
Mamlouk MD, Danial C, McCullough WP
Pediatr Radiol 2019 Jul;49(8):1088-1103. Epub 2019 May 31 doi: 10.1007/s00247-019-04418-0. PMID: 31152211
Fetal Evaluation and Airway Management.
Prickett K, Javia L
Clin Perinatol 2018 Dec;45(4):609-628. doi: 10.1016/j.clp.2018.07.003. PMID: 30396408

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
Sirolimus in the treatment of kaposiform lymphangiomatosis.
Zhou J, Yang K, Chen S, Ji Y
Orphanet J Rare Dis 2021 Jun 8;16(1):260. doi: 10.1186/s13023-021-01893-3. PMID: 34103076Free PMC Article
Common (Cystic) Lymphatic Malformations: Current Knowledge and Management.
Dubois J, Thomas-Chaussé F, Soulez G
Tech Vasc Interv Radiol 2019 Dec;22(4):100631. Epub 2019 Sep 23 doi: 10.1016/j.tvir.2019.100631. PMID: 31864533
Endovascular methods for the treatment of vascular anomalies.
Gemmete JJ, Pandey AS, Kasten SJ, Chaudhary N
Neuroimaging Clin N Am 2013 Nov;23(4):703-28. Epub 2013 May 30 doi: 10.1016/j.nic.2013.03.016. PMID: 24156860

Prognosis

Cystic hygroma in adults: a single-centre experience and review of the literature.
McInerney NJ, O'Keeffe N, Nae A, Morariu J, Timon C
Ir J Med Sci 2023 Oct;192(5):2373-2377. Epub 2023 Jan 16 doi: 10.1007/s11845-022-03271-9. PMID: 36642745Free PMC Article
Sirolimus in the treatment of kaposiform lymphangiomatosis.
Zhou J, Yang K, Chen S, Ji Y
Orphanet J Rare Dis 2021 Jun 8;16(1):260. doi: 10.1186/s13023-021-01893-3. PMID: 34103076Free PMC Article
Management of cervicofacial lymphatic malformations requires a multidisciplinary approach.
Zobel MJ, Nowicki D, Gomez G, Lee J, Howell L, Miller J, Zeinati C, Anselmo DM
J Pediatr Surg 2021 May;56(5):1062-1067. Epub 2020 Sep 30 doi: 10.1016/j.jpedsurg.2020.09.017. PMID: 33982660
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

Clinical prediction guides

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
Lymphatic malformations compromising the upper airway in children: ultrasound-guided intralesional focal sclerotherapy with bleomycin targeting culprit lesions.
Usui H, Shinkai M, Kitagawa N, Mochizuki K, Kawakita I, Tsuzuki Y, Shinohara S, Yagi Y, Masuda M
Pediatr Surg Int 2020 Sep;36(9):1047-1054. Epub 2020 Jul 13 doi: 10.1007/s00383-020-04715-y. PMID: 32661596
Fatal Lung Toxicity After Intralesional Bleomycin Sclerotherapy of a Vascular Malformation.
Cho AL, Kiang SC, Lodenkamp J, Tritch WTH, Tomihama RT
Cardiovasc Intervent Radiol 2020 Apr;43(4):648-651. Epub 2020 Jan 30 doi: 10.1007/s00270-020-02420-w. PMID: 32002622
Benign and Malignant Oral Lesions in Children and Adolescents: An Organized Approach to Diagnosis and Management.
Yuhan BT, Svider PF, Mutchnick S, Sheyn A
Pediatr Clin North Am 2018 Oct;65(5):1033-1050. doi: 10.1016/j.pcl.2018.05.013. PMID: 30213347

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
Treatment of Lymphatic Malformations with the mTOR Inhibitor Sirolimus: A Systematic Review.
Wiegand S, Wichmann G, Dietz A
Lymphat Res Biol 2018 Aug;16(4):330-339. Epub 2018 Jun 20 doi: 10.1089/lrb.2017.0062. PMID: 29924669
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

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

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...