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Lymphatic malformation 4(LMPHM4)

MedGen UID:
1651756
•Concept ID:
C4747769
•
Disease or Syndrome
Synonyms: LMPHM4; Lymphedema, hereditary, ID
 
Gene (location): VEGFC (4q34.3)
 
Monarch Initiative: MONDO:0014393
OMIM®: 615907

Definition

Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene. [from MONDO]

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
Pedal edema
MedGen UID:
116085
•Concept ID:
C0239340
•
Pathologic Function
An abnormal accumulation of excess fluid in the lower extremity resulting in swelling of the feet and extending upward to the lower leg.
See: Feature record | Search on this feature
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
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
Hyperkeratosis
MedGen UID:
209030
•Concept ID:
C0870082
•
Disease or Syndrome
Hyperkeratosis is thickening of the outer layer of the skin, the stratum corneum, which is composed of large, polyhedral, plate-like envelopes filled with keratin which are the dead cells that have migrated up from the stratum granulosum.
See: Feature record | Search on this feature
Prominent superficial veins
MedGen UID:
324870
•Concept ID:
C1837785
•
Finding
A condition in which superficial veins (i.e., veins just under the skin) are more conspicuous or noticable than normal.
See: Feature record | Search on this feature
Toenail dysplasia
MedGen UID:
478253
•Concept ID:
C3276623
•
Finding
An abnormality of the development of the toenails.
See: Feature record | Search on this feature
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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
Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment.
McDaniel CG, Adams DM, Steele KE, Hammill AM, Merrow AC, Crane JL, Smith CL, Kozakewich HPW, Le Cras TD
Pediatr Blood Cancer 2023 Apr;70(4):e30219. Epub 2023 Jan 22 doi: 10.1002/pbc.30219. PMID: 36683202Free 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

Recent clinical studies

Etiology

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
22q11.2 deletion syndrome and congenital heart disease.
Goldmuntz E
Am J Med Genet C Semin Med Genet 2020 Mar;184(1):64-72. Epub 2020 Feb 12 doi: 10.1002/ajmg.c.31774. PMID: 32049433
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

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
Kaposiform lymphangiomatosis: Diagnosis, pathogenesis, and treatment.
McDaniel CG, Adams DM, Steele KE, Hammill AM, Merrow AC, Crane JL, Smith CL, Kozakewich HPW, Le Cras TD
Pediatr Blood Cancer 2023 Apr;70(4):e30219. Epub 2023 Jan 22 doi: 10.1002/pbc.30219. PMID: 36683202Free PMC Article
Vascular Anomalies (Part I): Classification and Diagnostics of Vascular Anomalies.
Sadick M, Müller-Wille R, Wildgruber M, Wohlgemuth WA
Rofo 2018 Sep;190(9):825-835. Epub 2018 Jun 6 doi: 10.1055/a-0620-8925. PMID: 29874693
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
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

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
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
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
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

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
Complex Lymphatic Anomalies and Therapeutic Options.
Chaudry G
Tech Vasc Interv Radiol 2019 Dec;22(4):100632. Epub 2019 Sep 21 doi: 10.1016/j.tvir.2019.100632. PMID: 31864531
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
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
Pancreatic hemolymphangioma.
Figueroa RM, Lopez GJ, Servin TE, Esquinca MH, Gómez-Pedraza A
JOP 2014 Jul 28;15(4):399-402. doi: 10.6092/1590-8577/2649. PMID: 25076353

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
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
Complex Lymphatic Anomalies and Therapeutic Options.
Chaudry G
Tech Vasc Interv Radiol 2019 Dec;22(4):100632. Epub 2019 Sep 21 doi: 10.1016/j.tvir.2019.100632. PMID: 31864531
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

Etiological diagnosis of macroglossia: Systematic review and diagnostic algorithm.
Dietrich E, Grimaux X, Martin L, Samimi M
Ann Dermatol Venereol 2022 Dec;149(4):228-237. Epub 2022 Oct 11 doi: 10.1016/j.annder.2022.03.011. PMID: 36229262
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
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
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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