PMID- 31236308
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20200225
IS  - 2162-1918 (Print)
IS  - 2162-1934 (Electronic)
IS  - 2162-1918 (Linking)
VI  - 8
IP  - 6
DP  - 2019 Jun 1
TI  - Generalized Lymphatic Anomaly and Gorham-Stout Disease: Overview and Recent 
      Insights.
PG  - 230-245
LID - 10.1089/wound.2018.0850 [doi]
AB  - Significance: Generalized lymphatic anomaly and Gorham-Stout disease are 
      extremely rare diseases with severe symptoms and poor prognosis. The etiology and 
      clinical presentation of the patients remain poorly defined, but recent research 
      has attempted to determine the pathogenesis of these diseases. Recent Advances: 
      In recent years, the characteristics of complex lymphatic anomalies have been 
      revealed. Kaposiform lymphangiomatosis is recognized as a new entity that has an 
      aggressive course and poor prognosis. Genetic analysis revealed somatic mutations 
      in genes associated with the phosphoinositide 3-kinase (PI3K) pathway in 
      lymphatic malformation lesions. Somatic NRAS mutation in lymphatic endothelium 
      from a generalized lymphatic anomaly patient was also detected as a potential 
      cause of disease. Furthermore, studies demonstrated the efficacy of the mammalian 
      target of rapamycin (mTOR) inhibitor sirolimus for these lymphatic diseases. 
      Critical Issues: These diseases have overlapping symptoms, imaging features, and 
      complications, leading to difficulty in their differential diagnosis. In 
      addition, there are no standard therapies. Therefore, we need to determine the 
      differences among these diseases to not only diagnose but also treat them 
      appropriately. Future Directions: Further investigations should reveal 
      differences in the clinical features and findings of radiological, pathological, 
      and genetic examinations to manage each disease appropriately. Somatic mutation 
      in genes encoding RAS/PI3K/mTOR signaling pathway components could be associated 
      with the pathogenesis of these diseases and may be novel targets for drug 
      therapies.
FAU - Ozeki, Michio
AU  - Ozeki M
AD  - Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, 
      Japan.
FAU - Fukao, Toshiyuki
AU  - Fukao T
AD  - Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, 
      Japan.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20190606
PL  - United States
TA  - Adv Wound Care (New Rochelle)
JT  - Advances in wound care
JID - 101590593
PMC - PMC6589502
OTO - NOTNLM
OT  - central conducting lymphatic anomaly
OT  - complex lymphatic anomaly
OT  - kaposiform lymphangiomatosis
OT  - lymphatic malformation
OT  - osteolysis
EDAT- 2019/06/27 06:00
MHDA- 2019/06/27 06:01
PMCR- 2019/06/06
CRDT- 2019/06/26 06:00
PHST- 2018/09/28 00:00 [received]
PHST- 2018/11/02 00:00 [accepted]
PHST- 2019/06/26 06:00 [entrez]
PHST- 2019/06/27 06:00 [pubmed]
PHST- 2019/06/27 06:01 [medline]
PHST- 2019/06/06 00:00 [pmc-release]
AID - 10.1089/wound.2018.0850 [pii]
AID - 10.1089/wound.2018.0850 [doi]
PST - ppublish
SO  - Adv Wound Care (New Rochelle). 2019 Jun 1;8(6):230-245. doi: 
      10.1089/wound.2018.0850. Epub 2019 Jun 6.