Lymphatic malformation

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Vascular Malformation

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Overview

Classification

Simple Vascular Malformations
Capillary Malformation
Lymphatic Malformation
Venous Malformation
Arteriovenous Malformation
Arteriovenous Fistula
Combined Vascular Malformations
Vascular Malformations of Major Named Vessels
Vascular Malformations associated With other Anomalies

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Hannan Javed, M.D.[2]

Overview

Lymphatic Malformations (LM)

Common (cystic) LM

Macrocystic LM

Microcystic LM

Generalized lymphatic anomaly (GLA)

Kaposiform lymphangiomatosis (KLA)

LM in Gorham-Stout disease

“Acquired” progressive lymphatic anomaly

Primary lymphedema

Nonne-Milroy syndrome

Primary hereditary lymphedema

Primary hereditary lymphedema

Lymphedema-distichiasis

Hypotrichosis-lymphedema-telangiectasia

Primary lymphedema with myelodysplasia

Primary generalized lymphatic anomaly

Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Lymphedema-choanal atresia

  • A very rare syndrome described in 1982 in a Middle Eastern family when individuals in the family presented with bilateral posterior choanal atresia with other developmental abnormalities such as high arched palate, hypoplastic nipples, pericardial effusion, and pectus excavatum. Follow up detected lymphedema in five individuals with choanal atresia in the family later in 1991.
  • Deletion in PTPN14 gene that appeared to follow autosomal-recessive pattern are thought to be the cause. This gene encodes for a protein that is thought to be involved in cell-signaling pathways and regulation of cellular functions.[26]

References

Template:Reflist2

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  2. Kadakia KC, Patel SM, Yi ES, Limper AH (2013). "Diffuse pulmonary lymphangiomatosis". Can. Respir. J. 20 (1): 52–4. doi:10.1155/2013/971350. PMC 3628648. PMID 23457676.
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