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Lymphatic malformation 10(LMPHM10)

MedGen UID:
1780452
•Concept ID:
C5543531
•
Disease or Syndrome
Synonyms: LMPHM10; LYMPHATIC MALFORMATION 10
 
Gene (location): ANGPT2 (8p23.1)
 
Monarch Initiative: MONDO:0023662
OMIM®: 619369

Definition

Lymphatic malformation-10 (LMPHM10) is an autosomal dominant disorder characterized by onset of lymphedema within the first year of life. Lymphedema primarily involves the lower extremities but may also occur in the neck, upper extremities, and scrotum or labia majora. Gradual resorption generally occurs, although some patients may experience progression complicated by cellulitis (Leppanen et al., 2020). For a discussion of genetic heterogeneity of lymphatic malformation, see 153100. [from OMIM]

Clinical features

From HPO
Hydrocele testis
MedGen UID:
318568
•Concept ID:
C1720771
•
Congenital Abnormality
Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis.
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

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
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
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

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
Cytological and Biochemical Analyses of Lymphatic Fluid from Patients with Lymphatic Malformations.
Zhou J, Guo L, Song D, Li J, Liu Z, Sun J, Niu Y
Lymphat Res Biol 2023 Aug;21(4):339-342. Epub 2023 Feb 13 doi: 10.1089/lrb.2021.0068. PMID: 36780016
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 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
Pediatric vascular anomalies with airway compromise.
Gorostidi F, Glasson N, Salati V, Sandu K
J Oral Pathol Med 2022 Nov;51(10):888-896. Epub 2022 Apr 6 doi: 10.1111/jop.13297. PMID: 35347777Free PMC Article

Diagnosis

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
French national diagnosis and care protocol (PNDS, protocole national de diagnostic et de soins): cystic lymphatic malformations.
Leboulanger N, Bisdorff A, Boccara O, Dompmartin A, Guibaud L, Labreze C, Lagier J, Lebrun-Vignes B, Herbreteau D, Joly A, Malloizel-Delaunay J, Martel A, Munck S, Saint-Aubin F, Maruani A
Orphanet J Rare Dis 2023 Jan 13;18(1):10. doi: 10.1186/s13023-022-02608-y. PMID: 36639640Free PMC Article
The genetics of vascular birthmarks.
Mahajan P, Bergstrom KL, Phung TL, Metry DW
Clin Dermatol 2022 Jul-Aug;40(4):313-321. Epub 2022 Feb 16 doi: 10.1016/j.clindermatol.2022.02.006. PMID: 35181412
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
Klippel-Trenaunay syndrome.
Berry SA, Peterson C, Mize W, Bloom K, Zachary C, Blasco P, Hunter D
Am J Med Genet 1998 Oct 2;79(4):319-26. PMID: 9781914

Therapy

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
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
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
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
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
Kaposiform Lymphangiomatosis: Pathologic Aspects in 43 Patients.
Perez-Atayde AR, Debelenko L, Al-Ibraheemi A, Eng W, Ruiz-Gutierrez M, O'Hare M, Croteau SE, Trenor CC 3rd, Boyer D, Balkin DM, Barclay SF, Hsi Dickie B, Liang MG, Chaudry G, Alomari AI, Mulliken JB, Adams DM, Kurek KC, Fishman SJ, Kozakewich HPW
Am J Surg Pathol 2022 Jul 1;46(7):963-976. Epub 2022 Apr 7 doi: 10.1097/PAS.0000000000001898. PMID: 35385405
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
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

Clinical prediction guides

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
New insights on Noonan syndrome's clinical phenotype: a single center retrospective study.
Baldo F, Fachin A, Da Re B, Rubinato E, Bobbo M, Barbi E
BMC Pediatr 2022 Dec 24;22(1):734. doi: 10.1186/s12887-022-03804-2. PMID: 36566191Free 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
Development of Molecular Therapies for Venous Malformations.
Kangas J, Nätynki M, Eklund L
Basic Clin Pharmacol Toxicol 2018 Sep;123 Suppl 5:6-19. Epub 2018 May 29 doi: 10.1111/bcpt.13027. PMID: 29668117
A review of the management of lymphangiomas.
Ha J, Yu YC, Lannigan F
Curr Pediatr Rev 2014;10(3):238-48. doi: 10.2174/1573396309666131209210751. PMID: 25088344

Recent systematic reviews

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
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
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
Tremor and Parkinsonism in Chromosomopathies - A Systematic Review.
Carvalho V, Ferreira JJ, Correia Guedes L
Mov Disord 2021 Sep;36(9):2017-2025. Epub 2021 May 31 doi: 10.1002/mds.28663. PMID: 34056754
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

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