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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 noticeable 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
Management of hemangiomas and pediatric vascular malformations.
Higuera S, Gordley K, Metry DW, Stal S
J Craniofac Surg 2006 Jul;17(4):783-9. doi: 10.1097/00001665-200607000-00034. PMID: 16877935

Recent clinical studies

Etiology

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
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
Percutaneous Treatment of Lymphatic Malformations.
Acord M, Srinivasan AS, Cahill AM
Tech Vasc Interv Radiol 2016 Dec;19(4):305-311. Epub 2016 Oct 6 doi: 10.1053/j.tvir.2016.10.001. PMID: 27993327

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
A case series of fetal lymphatic malformations and a review of the literature.
Papaccio M, Bernardi M, Tonegatti LG, Alberti D, Sartori E, Signorelli M
J Neonatal Perinatal Med 2023;16(4):747-754. doi: 10.3233/NPM-230160. PMID: 38007678
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
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
Percutaneous Treatment of Lymphatic Malformations.
Acord M, Srinivasan AS, Cahill AM
Tech Vasc Interv Radiol 2016 Dec;19(4):305-311. Epub 2016 Oct 6 doi: 10.1053/j.tvir.2016.10.001. PMID: 27993327

Therapy

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
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
Percutaneous Treatment of Lymphatic Malformations.
Acord M, Srinivasan AS, Cahill AM
Tech Vasc Interv Radiol 2016 Dec;19(4):305-311. Epub 2016 Oct 6 doi: 10.1053/j.tvir.2016.10.001. PMID: 27993327
Giant facial lymphangioma.
Sanger C, Wong L, Wood J, David LR, Argenta LC
J Craniofac Surg 2011 Jul;22(4):1271-4. doi: 10.1097/SCS.0b013e31821c6cf1. PMID: 21772195

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
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
Percutaneous Treatment of Lymphatic Malformations.
Acord M, Srinivasan AS, Cahill AM
Tech Vasc Interv Radiol 2016 Dec;19(4):305-311. Epub 2016 Oct 6 doi: 10.1053/j.tvir.2016.10.001. PMID: 27993327
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
Giant facial lymphangioma.
Sanger C, Wong L, Wood J, David LR, Argenta LC
J Craniofac Surg 2011 Jul;22(4):1271-4. doi: 10.1097/SCS.0b013e31821c6cf1. PMID: 21772195

Clinical prediction guides

Use of magnetic resonance imaging lymphangiography for preoperative planning in lymphedema surgery: A systematic review.
Forte AJ, Boczar D, Huayllani MT, Avila FR, Guliyeva G, Lu X, Mash WR, Kung TA
Microsurgery 2021 May;41(4):384-390. Epub 2021 Mar 12 doi: 10.1002/micr.30731. PMID: 33710683
Obesity in adults with 22q11.2 deletion syndrome.
Voll SL, Boot E, Butcher NJ, Cooper S, Heung T, Chow EW, Silversides CK, Bassett AS
Genet Med 2017 Feb;19(2):204-208. Epub 2016 Aug 18 doi: 10.1038/gim.2016.98. PMID: 27537705Free PMC Article
Percutaneous Treatment of Lymphatic Malformations.
Acord M, Srinivasan AS, Cahill AM
Tech Vasc Interv Radiol 2016 Dec;19(4):305-311. Epub 2016 Oct 6 doi: 10.1053/j.tvir.2016.10.001. PMID: 27993327
Giant facial lymphangioma.
Sanger C, Wong L, Wood J, David LR, Argenta LC
J Craniofac Surg 2011 Jul;22(4):1271-4. doi: 10.1097/SCS.0b013e31821c6cf1. PMID: 21772195
Developmental disorders of the lymphatic system.
Greenlee R, Hoyme H, Witte M, Crowe P, Witte C
Lymphology 1993 Dec;26(4):156-68. PMID: 8121193

Recent systematic reviews

Preoperative Imaging in Patients with 22q11 Deletion Syndrome Undergoing Velopharyngeal Surgery.
Duckett KA, Poupore NS, Carroll WW, Pecha PP
Laryngoscope 2024 Jun;134(6):2551-2561. Epub 2023 Dec 5 doi: 10.1002/lary.31181. PMID: 38050953Free 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
Management of lymphatic vascular malformations: A systematic review of the literature.
Kalwani NM, Rockson SG
J Vasc Surg Venous Lymphat Disord 2021 Jul;9(4):1077-1082. Epub 2021 Feb 1 doi: 10.1016/j.jvsv.2021.01.013. PMID: 33540133
Parietal cell/oncocytic gastric carcinoma: systematic review and first-time assessment of HER2 status in two new cases.
Mavroeidis VK, Gkegkes ID, Saffioti F, Kandilaris K, Alexiou K, Horti M, Economou N, Demonakou M
Ann R Coll Surg Engl 2020 Apr;102(4):300-307. Epub 2020 Jan 13 doi: 10.1308/rcsann.2019.0183. PMID: 31928359Free PMC Article
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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