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Lymphatic malformation 2(LMPHM2)

MedGen UID:
1648459
•Concept ID:
C4747568
•
Disease or Syndrome
Synonyms: LMPH1B; LMPHM2; Lymphedema, hereditary, 1B; Lymphedema, hereditary, IB
 
Monarch Initiative: MONDO:0012765
OMIM®: 611944

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
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

Professional guidelines

PubMed

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.
Biggs SE, Gilchrist B, May KR
Curr Allergy Asthma Rep 2023 Apr;23(4):213-222. Epub 2023 Mar 10 doi: 10.1007/s11882-023-01071-4. PMID: 36897497Free PMC Article
Comparative pathophysiology and management of protein-losing enteropathy.
Craven MD, Washabau RJ
J Vet Intern Med 2019 Mar;33(2):383-402. Epub 2019 Feb 14 doi: 10.1111/jvim.15406. PMID: 30762910Free PMC Article
Vascular malformations: classification, diagnosis and treatment.
Carqueja IM, Sousa J, Mansilha A
Int Angiol 2018 Apr;37(2):127-142. Epub 2018 Feb 8 doi: 10.23736/S0392-9590.18.03961-5. PMID: 29424187

Recent clinical studies

Etiology

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
Prenatal Screening and Diagnostic Considerations for 22q11.2 Microdeletions.
Blagowidow N, Nowakowska B, Schindewolf E, Grati FR, Putotto C, Breckpot J, Swillen A, Crowley TB, Loo JCY, Lairson LA, Óskarsdóttir S, Boot E, Garcia-Minaur S, Cristina Digilio M, Marino B, Coleman B, Moldenhauer JS, Bassett AS, McDonald-McGinn DM
Genes (Basel) 2023 Jan 6;14(1) doi: 10.3390/genes14010160. PMID: 36672900Free PMC Article
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML
J Clin Immunol 2023 Feb;43(2):247-270. Epub 2023 Jan 17 doi: 10.1007/s10875-022-01418-y. PMID: 36648576Free PMC Article
Neurological manifestation of 22q11.2 deletion syndrome.
Bayat M, Bayat A
Neurol Sci 2022 Mar;43(3):1695-1700. Epub 2022 Jan 18 doi: 10.1007/s10072-021-05825-8. PMID: 35039989
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management.
Swillen A, Moss E, Duijff S
Am J Med Genet A 2018 Oct;176(10):2160-2166. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38709. PMID: 29696780Free PMC Article

Diagnosis

Chromosome 22q11.2 Deletion (DiGeorge Syndrome): Immunologic Features, Diagnosis, and Management.
Biggs SE, Gilchrist B, May KR
Curr Allergy Asthma Rep 2023 Apr;23(4):213-222. Epub 2023 Mar 10 doi: 10.1007/s11882-023-01071-4. PMID: 36897497Free PMC Article
DiGeorge syndrome: consider the diagnosis.
Altshuler E, Saidi A, Budd J
BMJ Case Rep 2022 Feb 2;15(2) doi: 10.1136/bcr-2021-245164. PMID: 35110278Free PMC Article
Clinical Manifestations of 22q11.2 Deletion Syndrome.
Cirillo A, Lioncino M, Maratea A, Passariello A, Fusco A, Fratta F, Monda E, Caiazza M, Signore G, Esposito A, Baban A, Versacci P, Putotto C, Marino B, Pignata C, Cirillo E, Giardino G, Sarubbi B, Limongelli G, Russo MG
Heart Fail Clin 2022 Jan;18(1):155-164. Epub 2021 Oct 25 doi: 10.1016/j.hfc.2021.07.009. PMID: 34776076
22q11.2 deletion syndrome.
McDonald-McGinn DM, Sullivan KE, Marino B, Philip N, Swillen A, Vorstman JA, Zackai EH, Emanuel BS, Vermeesch JR, Morrow BE, Scambler PJ, Bassett AS
Nat Rev Dis Primers 2015 Nov 19;1:15071. doi: 10.1038/nrdp.2015.71. PMID: 27189754Free PMC Article
Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
McDonald-McGinn DM, Sullivan KE
Medicine (Baltimore) 2011 Jan;90(1):1-18. doi: 10.1097/MD.0b013e3182060469. PMID: 21200182

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
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
Vascular malformations: classification, diagnosis and treatment.
Carqueja IM, Sousa J, Mansilha A
Int Angiol 2018 Apr;37(2):127-142. Epub 2018 Feb 8 doi: 10.23736/S0392-9590.18.03961-5. PMID: 29424187
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

Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome.
Yu HH, Chien YH, Lu MY, Hu YC, Lee JH, Wang LC, Lin YT, Yang YH, Chiang BL
J Clin Immunol 2022 Nov;42(8):1721-1729. Epub 2022 Aug 4 doi: 10.1007/s10875-022-01340-3. PMID: 35925483
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management.
Swillen A, Moss E, Duijff S
Am J Med Genet A 2018 Oct;176(10):2160-2166. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38709. PMID: 29696780Free PMC Article
Long term effects of manual lymphatic drainage and active exercises on physical morbidities, lymphoscintigraphy parameters and lymphedema formation in patients operated due to breast cancer: A clinical trial.
Oliveira MMF, Gurgel MSC, Amorim BJ, Ramos CD, Derchain S, Furlan-Santos N, Dos Santos CC, Sarian LO
PLoS One 2018;13(1):e0189176. Epub 2018 Jan 5 doi: 10.1371/journal.pone.0189176. PMID: 29304140Free PMC Article
Splenic lymphangioma.
Ioannidis I, Kahn AG
Arch Pathol Lab Med 2015 Feb;139(2):278-82. doi: 10.5858/arpa.2013-0656-RS. PMID: 25611113
Complex lymphatic anomalies.
Trenor CC 3rd, Chaudry G
Semin Pediatr Surg 2014 Aug;23(4):186-90. Epub 2014 Jul 22 doi: 10.1053/j.sempedsurg.2014.07.006. PMID: 25241096

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
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
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
Neurodevelopmental outcome in 22q11.2 deletion syndrome and management.
Swillen A, Moss E, Duijff S
Am J Med Genet A 2018 Oct;176(10):2160-2166. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38709. PMID: 29696780Free PMC Article
Complex lymphatic anomalies.
Trenor CC 3rd, Chaudry G
Semin Pediatr Surg 2014 Aug;23(4):186-90. Epub 2014 Jul 22 doi: 10.1053/j.sempedsurg.2014.07.006. PMID: 25241096

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
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
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
Vascular malformations: classification, diagnosis and treatment.
Carqueja IM, Sousa J, Mansilha A
Int Angiol 2018 Apr;37(2):127-142. Epub 2018 Feb 8 doi: 10.23736/S0392-9590.18.03961-5. PMID: 29424187

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