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Lymphatic malformation 3(LMPHM3)

MedGen UID:
1652857
•Concept ID:
C4747646
•
Disease or Syndrome
Synonyms: LMPHM3; Lymphedema, hereditary, IC
 
Gene (location): GJC2 (1q42.13)
 
Monarch Initiative: MONDO:0013278
OMIM®: 613480

Definition

Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. [from OMIM]

Clinical features

From HPO
Cellulitis
MedGen UID:
40174
•Concept ID:
C0007642
•
Disease or Syndrome
A bacterial infection and inflammation of the skin und subcutaneous tissues.
See: Feature record | Search on this feature
Recurrent skin infections
MedGen UID:
377848
•Concept ID:
C1853193
•
Disease or Syndrome
Infections of the skin that happen multiple times.
See: Feature record | Search on this feature
Lymphedema
MedGen UID:
6155
•Concept ID:
C0024236
•
Disease or Syndrome
Localized fluid retention and tissue swelling caused by a compromised lymphatic system.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

AGA Clinical Practice Update on Endoscopic Treatment of Barrett's Esophagus With Dysplasia and/or Early Cancer: Expert Review.
Sharma P, Shaheen NJ, Katzka D, Bergman JJGHM
Gastroenterology 2020 Feb;158(3):760-769. Epub 2019 Nov 12 doi: 10.1053/j.gastro.2019.09.051. PMID: 31730766
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
Normalization of the vasculature for treatment of cancer and other diseases.
Goel S, Duda DG, Xu L, Munn LL, Boucher Y, Fukumura D, Jain RK
Physiol Rev 2011 Jul;91(3):1071-121. doi: 10.1152/physrev.00038.2010. PMID: 21742796Free PMC Article

Recent clinical studies

Etiology

Thalamocortical organoids enable in vitro modeling of 22q11.2 microdeletion associated with neuropsychiatric disorders.
Shin D, Kim CN, Ross J, Hennick KM, Wu SR, Paranjape N, Leonard R, Wang JC, Keefe MG, Pavlovic BJ, Donohue KC, Moreau C, Wigdor EM, Larson HH, Allen DE, Cadwell CR, Bhaduri A, Popova G, Bearden CE, Pollen AA, Jacquemont S, Sanders SJ, Haussler D, Wiita AP, Frost NA, Sohal VS, Nowakowski TJ
Cell Stem Cell 2024 Mar 7;31(3):421-432.e8. Epub 2024 Feb 20 doi: 10.1016/j.stem.2024.01.010. PMID: 38382530Free PMC Article
Use of octreotide for the treatment of protein-losing enteropathy in dogs: Retrospective study of 18 cases.
Jablonski SA, Mazepa ASW, Tolbert MK
J Vet Intern Med 2024 Jan-Feb;38(1):145-151. Epub 2023 Dec 1 doi: 10.1111/jvim.16966. PMID: 38038236Free PMC Article
22q11.2 duplications: Expanding the clinical presentation.
Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A
Am J Med Genet A 2022 Mar;188(3):779-787. Epub 2021 Nov 29 doi: 10.1002/ajmg.a.62577. PMID: 34845825
An approach to familial lymphoedema.
Jones GE, Mansour S
Clin Med (Lond) 2017 Dec;17(6):552-557. doi: 10.7861/clinmedicine.17-6-552. PMID: 29196357Free PMC Article
Contemporary management of vascular malformations.
Colletti G, Valassina D, Bertossi D, Melchiorre F, Vercellio G, Brusati R
J Oral Maxillofac Surg 2014 Mar;72(3):510-28. Epub 2013 Oct 16 doi: 10.1016/j.joms.2013.08.008. PMID: 24139296

Diagnosis

Use of octreotide for the treatment of protein-losing enteropathy in dogs: Retrospective study of 18 cases.
Jablonski SA, Mazepa ASW, Tolbert MK
J Vet Intern Med 2024 Jan-Feb;38(1):145-151. Epub 2023 Dec 1 doi: 10.1111/jvim.16966. PMID: 38038236Free PMC Article
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
22q11.2 duplications: Expanding the clinical presentation.
Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A
Am J Med Genet A 2022 Mar;188(3):779-787. Epub 2021 Nov 29 doi: 10.1002/ajmg.a.62577. PMID: 34845825
Genetic basis for vascular anomalies.
Kirkorian AY, Grossberg AL, Püttgen KB
Semin Cutan Med Surg 2016 Sep;35(3):128-36. doi: 10.12788/j.sder.2016.051. PMID: 27607321
Contemporary management of vascular malformations.
Colletti G, Valassina D, Bertossi D, Melchiorre F, Vercellio G, Brusati R
J Oral Maxillofac Surg 2014 Mar;72(3):510-28. Epub 2013 Oct 16 doi: 10.1016/j.joms.2013.08.008. PMID: 24139296

Therapy

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
Genetic Basis and Therapies for Vascular Anomalies.
Queisser A, Seront E, Boon LM, Vikkula M
Circ Res 2021 Jun 25;129(1):155-173. Epub 2021 Jun 24 doi: 10.1161/CIRCRESAHA.121.318145. PMID: 34166070
Juvenile parkinsonism: Differential diagnosis, genetics, and treatment.
Niemann N, Jankovic J
Parkinsonism Relat Disord 2019 Oct;67:74-89. Epub 2019 Jun 30 doi: 10.1016/j.parkreldis.2019.06.025. PMID: 31272925
Plastic Bronchitis.
Rubin BK
Clin Chest Med 2016 Sep;37(3):405-8. Epub 2016 Jun 15 doi: 10.1016/j.ccm.2016.04.003. PMID: 27514587
Normalization of the vasculature for treatment of cancer and other diseases.
Goel S, Duda DG, Xu L, Munn LL, Boucher Y, Fukumura D, Jain RK
Physiol Rev 2011 Jul;91(3):1071-121. doi: 10.1152/physrev.00038.2010. PMID: 21742796Free PMC Article

Prognosis

Intra-abdominal Cystic Lymphangiomas: The Vanderbilt Experience.
Mede A, Chotai PN, Huh WJ, Tan M
J Surg Res 2023 May;285:197-204. Epub 2023 Jan 23 doi: 10.1016/j.jss.2022.12.026. PMID: 36696706
Neonatal lymphatic flow disorders: impact of lymphatic imaging and interventions on outcomes.
Pinto E, Dori Y, Smith C, DeWitt A, Williams C, Griffis H, Escobar F, Biko DM, Krishnamurthy G, Rome J, Glatz AC, Liu M, Ravishankar C, Zhang H, Taha D
J Perinatol 2021 Mar;41(3):494-501. Epub 2020 Sep 2 doi: 10.1038/s41372-020-00771-3. PMID: 32879418
Vascular anomalies in pediatrics.
Fevurly RD, Fishman SJ
Surg Clin North Am 2012 Jun;92(3):769-800, x. Epub 2012 Apr 26 doi: 10.1016/j.suc.2012.03.016. PMID: 22595720
Primary lymphoedema and lymphatic malformation: are they the two sides of the same coin?
Lee BB, Villavicencio JL
Eur J Vasc Endovasc Surg 2010 May;39(5):646-53. Epub 2010 Feb 21 doi: 10.1016/j.ejvs.2010.01.018. PMID: 20176496
Taxane-induced scleroderma.
Itoh M, Yanaba K, Kobayashi T, Nakagawa H
Br J Dermatol 2007 Feb;156(2):363-7. doi: 10.1111/j.1365-2133.2006.07597.x. PMID: 17223879

Clinical prediction guides

Transcriptional linkage analysis with in vivo AAV-Perturb-seq.
Santinha AJ, Klingler E, Kuhn M, Farouni R, Lagler S, Kalamakis G, Lischetti U, Jabaudon D, Platt RJ
Nature 2023 Oct;622(7982):367-375. Epub 2023 Sep 20 doi: 10.1038/s41586-023-06570-y. PMID: 37730998Free PMC Article
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
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
Bhattarai D, McGinn DE, Crowley TB, Giunta V, Gaiser K, Zackai EH, Emanuel BS, Heimall J, Jyonouchi S, Lee J, Sun D, McDonald-McGinn DM, Sullivan KE
J Clin Immunol 2023 May;43(4):794-807. Epub 2023 Feb 3 doi: 10.1007/s10875-023-01443-5. PMID: 36735193
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

Recent systematic reviews

Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Boot E, Óskarsdóttir S, Loo JCY, Crowley TB, Orchanian-Cheff A, Andrade DM, Arganbright JM, Castelein RM, Cserti-Gazdewich C, de Reuver S, Fiksinski AM, Klingberg G, Lang AE, Mascarenhas MR, Moss EM, Nowakowska BA, Oechslin E, Palmer L, Repetto GM, Reyes NGD, Schneider M, Silversides C, Sullivan KE, Swillen A, van Amelsvoort TAMJ, Van Batavia JP, Vingerhoets C, McDonald-McGinn DM, Bassett AS
Genet Med 2023 Mar;25(3):100344. Epub 2023 Feb 2 doi: 10.1016/j.gim.2022.11.012. PMID: 36729052
Sirolimus in the Treatment of Microcystic Lymphatic Malformations: A Systematic Review.
Teng JMC, Hammill A, Martini J, Treat J
Lymphat Res Biol 2023 Apr;21(2):101-110. Epub 2022 Jul 18 doi: 10.1089/lrb.2021.0103. PMID: 35852876
Sclerotherapy for lymphatic malformations of head and neck: Systematic review and meta-analysis.
De Maria L, De Sanctis P, Balakrishnan K, Tollefson M, Brinjikji W
J Vasc Surg Venous Lymphat Disord 2020 Jan;8(1):154-164. Epub 2019 Nov 14 doi: 10.1016/j.jvsv.2019.09.007. PMID: 31734224
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
Fetuses with right aortic arch: a multicenter cohort study and meta-analysis.
D'Antonio F, Khalil A, Zidere V, Carvalho JS
Ultrasound Obstet Gynecol 2016 Apr;47(4):423-32. Epub 2016 Mar 16 doi: 10.1002/uog.15805. PMID: 26643657

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