Management of lymphatic malformations in children

Bagrodia, Naina; Defnet, Ann M.; Kandel, Jessica J.

doi:10.1097/mop.0000000000000209

Cited by 103 publications

(92 citation statements)

References 77 publications

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“…Better understanding of VEGFR3 and other strictly interconnected pathways, such as the PI3K/AKT/mTOR, HGF/MET and RAS/MAPK pathways,1 may provide new treatment options 87…”

Section: Discussionmentioning

confidence: 99%

Genetic tests in lymphatic vascular malformations and lymphedema

Michelini

Paolacci²,

Manara³

et al. 2018

J Med Genet

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Syndromes with lymphatic malformations show phenotypic variability within the same entity, clinical features that overlap between different conditions and allelic as well as heterogeneity. The aim of this review is to provide a comprehensive clinical genetic description of lymphatic malformations and the techniques used for their diagnosis, and to propose a flowchart for genetic testing. Literature and database searches were performed to find conditions characterised by lymphatic malformations or the predisposition to lymphedema after surgery, to identify the associated genes and to find the guidelines and genetic tests currently used for the molecular diagnosis of these disorders. This search allowed us to identify several syndromes with lymphatic malformations that are characterised by a great heterogeneity of phenotypes, alleles and, and a high frequency of sporadic cases, which may be associated with somatic mutations. For these disorders, we found many diagnostic tests, an absence of harmonic guidelines for molecular diagnosis and well-established clinical guidelines. Targeted sequencing is the preferred method for the molecular diagnosis of lymphatic malformations. These techniques are easy to implement and have a good diagnostic success rates. In addition, they are relatively inexpensive and permit parallel analysis of all known disease-associated genes. The targeted sequencing approach has improved the diagnostic process, giving patients access to better treatment and, potentially, to therapy personalised to their genetic profiles. These new techniques will also facilitate the prenatal and early postnatal diagnosis of congenital lymphatic conditions and the possibility of early intervention.

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“…Better understanding of VEGFR3 and other strictly interconnected pathways, such as the PI3K/AKT/mTOR, HGF/MET and RAS/MAPK pathways,1 may provide new treatment options 87…”

Section: Discussionmentioning

confidence: 99%

Genetic tests in lymphatic vascular malformations and lymphedema

Michelini

Paolacci²,

Manara³

et al. 2018

J Med Genet

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“…Though sometimes uninvolved, the overlying skin may demonstrate some lymphatic papules, or vascular cutaneous marks. 1 In addition, the skin color may have a blue shade to it, especially when the LM is macrocystic, or it may appear as a dark-red dome after intralesional hemorrhage. Internally, these masses are uni-or multi-loculated, with very thin walls.…”

Section: Discussionmentioning

confidence: 99%

“…2,3 Occasionally, the lesions can be painful and/or bleed; additionally, they have been associated with lymphopenia, leading to a higher risk of infections for these patients. 1 The mortality rate of this pathology varies from 3.4 to 5.7%. 3 Lymphangiomas can be nicely defined on CT or MrI, and ultrasound should be carried out as well for a thorough work-up.…”

Section: Discussionmentioning

confidence: 99%

Preoperative intralesional injection of triamcinolone acetonide for a large head and neck lymphangioma in a baby: a case report

July

Peeters

2018

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Lymphangiomas (LMs) are uncommon congenital malformations of the lymphatic system, with an estimated incidence of one in 2,000 to 4,000 live births.1 About half of these lesions are diagnosed at birth, and by two years of age, 90% of those with lesions have been diagnosed.2 Histologically, LMs are benign lesions; however, they can pose a serious threat to the patient due to possible growth into surrounding structures, sometimes causing life-threatening complications. Treatment of large head and neck lymphangiomas in young infants is very challenging, due to the risk of surgical complications. Further challenges include the limited volume of blood loss that infants can tolerate, the lack of the option for radiotherapy or radiosurgery, and the high chance of life-threatening complications if the LM is not treated. Here, we report a case of a two-month-old baby girl presenting with a large head and neck lymphangioma. She was successfully treated with intralesional triamcinolone acetonide injections, followed by surgical resection of the lesion.

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“…The cystic cavities contain clear, proteinaceous, serous fluid, which is highly concentrated in lymphocytes and macrophages. 1 In fact, 45% of such stable lesions have shown spontaneous regression.1 If intervention is needed, the standard treatment for LMs used to be surgery, since a complete resection would almost guarantee elimination of any risk of recurrence. However, the main limitation with this approach was the potential damage to nearby vital structures.…”

Section: Discussionmentioning

confidence: 99%

“…1 About half of these lesions are diagnosed at birth, and by two years of age, 90% of those with lesions have been diagnosed. 2 Histologically, LMs are benign lesions; however, they can pose a serious threat to the patient due to possible growth into surrounding structures, sometimes causing life-threatening complications.…”

mentioning

confidence: 99%