Vascular malformation: Difference between revisions

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* [[Mutations]] in PTEN [[gene]] have been thought to be the cause. This [[gene]] encodes an [[enzyme]] that acts as [[tumor]] suppressor by stopping [[cell division]] and inducing [[apoptosis]]. Both autosomal-dominant transmission and sporadic occurrence have been reported.<ref name="pmid24474112" />
* [[Mutations]] in PTEN [[gene]] have been thought to be the cause. This [[gene]] encodes an [[enzyme]] that acts as [[tumor]] suppressor by stopping [[cell division]] and inducing [[apoptosis]]. Both autosomal-dominant transmission and sporadic occurrence have been reported.<ref name="pmid24474112" />
* [[Diagnosis]] is based on clinical findings, the most important of these findings being [[penile pigmented maculae]], [[hamartomatous intestinal polyposis]] and macrocephaly. Management consists of psycho-social counseling and treatment of manifestations such as [[surgical]] and [[dermatological]] interventions, [[spinal stimulation]] for intractable gastrointestinal pain and screening for [[[malignancies]] associated with PTEN mutations such as annual [[thyroid]] [[ultrasound]] and [[mammography]].<ref name="pmid24474112" /><ref name="pmid26157835" />
* [[Diagnosis]] is based on clinical findings, the most important of these findings being [[penile pigmented maculae]], [[hamartomatous intestinal polyposis]] and macrocephaly. Management consists of psycho-social counseling and treatment of manifestations such as [[surgical]] and [[dermatological]] interventions, [[spinal stimulation]] for intractable gastrointestinal pain and screening for [[[malignancies]] associated with PTEN mutations such as annual [[thyroid]] [[ultrasound]] and [[mammography]].<ref name="pmid24474112" /><ref name="pmid26157835" />
* To learn more, click here.
* To learn more about Bannayan-Riley-Ruvalcaba syndrome, [[Bannayan-Zonana syndrome#Bannayan-Zonana syndrome|click here]].


===CLAPO syndrome===
===CLAPO syndrome===

Revision as of 15:44, 16 October 2018

Vascular malformation
Classification and external resources
MeSH D054079

For information on vascular anomalies, click here

Vascular Malformation

Home

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], Anmol Pitliya, M.B.B.S. M.D.[3]

Overview

Vascular malformation is a blood vessel abnormality. There are many types, but the most common is arteriovenous malformation. Clinical behavior and growth cycles vary widely and it may cause clinical and aesthetic problems. International Society for the Study of Vascular Anomalies (ISSVA) has classified vascular malformation into simple malformation, combined malformation, those of major named vessels, and those associated with other anomalies. Simple malformation have been divided further into capillary malformation, venous malformation and lymphatic malformation.

Classification

 
 
 
 
 
 
 
 
 
 
 
 
Vascular malformations
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Simple vascular malformations
 
 
 
Combined vascular malformations*
 
 
 
 
Vascular malformations of major named vessels
 
 
 
Vascular malformations asscoiated with other anomalies
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Capillary malformations (CM)
 
 
Lymphatic malformations (LM)
 
 
Venous malformations (VM)
 
 
Arteriovenous malformations (AVM)
 
 
Arteriovenous fistula
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Nevus simplex / salmon patch, “angel kiss”, “stork bite”
 
 
 
Common (cystic) LM
• Macrocystic LM
• Microcystic LM
• Mixed cystic LM
 
 
 
Common VM
 
 
 
Sporadic
 
 
 
Sporadic
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Cutaneous and/or mucosal CM (also known as “port-wine” stain)
• Nonsyndromic CM
• CM with CNS and/or ocular anomalies (Sturge-Weber syndrome)
• CM with bone and/or soft tissues overgrowth
• Diffuse CM with overgrowth (DCMO)
 
 
 
Generalized lymphatic anomaly (GLA)
Kaposiform lymphangiomatosis (KLA)
 
 
 
Familial VM cutaneo-mucosal (VMCM)
 
 
 
In HHT
 
 
 
In HHT
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Reticulate CM
• CM of MIC-CAP (microcephaly-capillary malformation)
• CM of MCAP (megalencephaly-capillary malformation-polymicrogyria)
 
 
 
LM in Gorham-Stout disease
 
 
 
Blue rubber bleb nevus (Bean) syndrome VM
 
 
 
In CM-AVM
 
 
 
In CM-AVM
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CM of CM-AVM
 
 
 
Channel type LM
 
 
 
Glomuvenous malformation (GVM)
 
 
 
Others
 
 
 
Others
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Cutis marmorata telangiectatica congenita (CMTC)
 
 
 
“Acquired” progressive lymphatic anomaly (so called acquired progressive "lymphangioma")
 
 
 
Cerebral cavernous malformation (CCM)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Others
 
 
 
Primary lymphedema
 
 
 
Familial intraosseous vascular malformation (VMOS)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Telangiectasia
• Hereditary hemorrhagic telangiectasia (HHT)
• Others
 
 
 
Others
 
 
 
Verrucous venous malformation (formerly verrucous hemangioma)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Others
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 

Simple Vascular Malformations

Simple Vascular Malformations are divided into:

  • Capillary malformation
  • Lymphatic malformation
  • Venous malformation
  • Arteriovenous malformation
  • Arteriovenous fistula

Combined Vascular Malformations

Combined vascular malformations*
CM + VM capillary-venous malformation CVM
CM + LM capillary-lymphatic malformation CLM
CM + AVM capillary-arteriovenous malformation CAVM
LM + VM lymphatic-venous malformation LVM
CM + LM + VM capillary-lymphatic-venous malformation CLVM
CM + LM + AVM capillary-lymphatic-arteriovenous malformation CLAVM
CM + VM + AVM capillary-venous-arteriovenous malformation CVAVM
CM + LM + VM + AVM capillary-lymphatic-venous-arteriovenous m. CLVAVM

Vascular Malformations of Major Named Vessels

Anomalies of major named vessels

(also known as "channel type" or "truncal" vascular malformations)

Affect
  • lymphatics
  • veins
  • arteries

Anomalies of

  • origin
  • course
  • number
  • length
  • diameter (aplasia, hypoplasia, stenosis, ectasia / aneurysm)
  • valves
  • communication (AVF)
  • persistence (of embryonal vessel)

Vascular Malformations associated With other Anomalies

Vascular malformations associated with other anomalies
Klippel-Trenaunay syndrome* CM + VM +/-LM + limb overgrowth
Parkes Weber syndrome CM + AVF + limb overgrowth
Servelle-Martorell syndrome limb VM + bone undergrowth
Sturge-Weber syndrome facial + leptomeningeal CM + eye anomalies

+/-bone and/or soft tissue overgrowth

Limb CM + congenital non-progressive limb overgrowth
Maffucci syndrome VM +/-spindle-cell hemangioma + enchondroma
Macrocephaly-CM (M-CM / MCAP)*
Microcephaly-CM (MICCAP)
CLOVES syndrome* LM + VM + CM +/-AVM+ lipomatous overgrowth
Proteus syndrome CM, VM and/or LM + asymmetrical somatic overgrowth
Bannayan-Riley-Ruvalcaba sd lower lip CM + face and neck LM + asymmetry and partial/generalized overgrowth

Klippel-Trenaunay syndrome

Parkes Weber syndrome

Servelle-Martorell syndrome

Sturge-Weber syndrome

Maffucci syndrome

CLOVES syndrome

Proteus syndrome

Bannayan-Riley-Ruvalcaba syndrome

CLAPO syndrome

See also

References

  1. 1.0 1.1 Abdolrahimzadeh S, Scavella V, Felli L, Cruciani F, Contestabile MT, Recupero SM (2015). "Ophthalmic Alterations in the Sturge-Weber Syndrome, Klippel-Trenaunay Syndrome, and the Phakomatosis Pigmentovascularis: An Independent Group of Conditions?". Biomed Res Int. 2015: 786519. doi:10.1155/2015/786519. PMC 4588354. PMID 26451379.
  2. Withana M, Rodrigo C, Shivanthan MC, Warnakulasooriya S, Wimalachandra M, Gooneratne L, Rajapakse S (November 2014). "Klippel-Trenaunay syndrome presenting with acanthocytosis and splenic and retroperitoneal lymphangioma: a case report". J Med Case Rep. 8: 390. doi:10.1186/1752-1947-8-390. PMC 4289367. PMID 25427442.
  3. 3.0 3.1 3.2 Ricks CB, Grandhi R, Ducruet AF (October 2014). "Klippel-Trenaunay syndrome and cavernous malformations". BMJ Case Rep. 2014. doi:10.1136/bcr-2014-207486. PMC 4187537. PMID 25293688.
  4. 4.0 4.1 4.2 4.3 4.4 Baba A, Yamazoe S, Okuyama Y, Shimizu K, Kobashi Y, Nozawa Y, Munetomo Y, Mogami T (February 2017). "A rare presentation of Klippel-Trenaunay syndrome with bilateral lower limbs". J Surg Case Rep. 2017 (2): rjx024. doi:10.1093/jscr/rjx024. PMC 5400491. PMID 28458832.
  5. 5.0 5.1 Tetangco EP, Arshad HM, Silva R (August 2016). "Klippel-Trenaunay Syndrome of the Rectosigmoid Colon Presenting as Severe Anemia". ACG Case Rep J. 3 (4): e161. doi:10.14309/crj.2016.134. PMC 5126491. PMID 27921060.
  6. 6.0 6.1 6.2 Chagas C, Pires L, Babinski MA, Leite T (2017). "Klippel-Trenaunay and Parkes-Weber syndromes: two case reports". J Vasc Bras. 16 (4): 320–324. doi:10.1590/1677-5449.005417. PMC 5944310. PMID 29930667. Vancouver style error: initials (help)
  7. 7.0 7.1 7.2 Karuppal R, Raman RV, Valsalan BP, Gopakumar T, Kumaran CM, Vasu CK (May 2008). "Servelle-Martorell syndrome with extensive upper limb involvement: a case report". J Med Case Rep. 2: 142. doi:10.1186/1752-1947-2-142. PMC 2394530. PMID 18454870. Vancouver style error: initials (help)
  8. Langer M, Langer R (May 1982). "[Radiologic aspects of the congenital arteriovenous malformations, Klippel-Trenaunay type, and Servelle-Martorell type (author's transl)]". Rofo (in German). 136 (5): 577–82. doi:10.1055/s-2008-1056105. PMID 6284617.
  9. McCarthy CM, Blecher H, Reich S (June 2015). "A case of myelopathy because of enchondromas from Maffucci syndrome with successful surgical treatment". Spine J. 15 (6): e15–9. doi:10.1016/j.spinee.2015.03.006. PMID 25777744.
  10. 10.0 10.1 Tsao YP, Tsai CY, Chen WS (December 2015). "Maffucci Syndrome". J. Rheumatol. 42 (12): 2434–5. doi:10.3899/jrheum.150216. PMID 26628708.
  11. 11.0 11.1 11.2 Prokopchuk O, Andres S, Becker K, Holzapfel K, Hartmann D, Friess H (February 2016). "Maffucci syndrome and neoplasms: a case report and review of the literature". BMC Res Notes. 9: 126. doi:10.1186/s13104-016-1913-x. PMC 4769492. PMID 26920730.
  12. Moriya K, Kaneko MK, Liu X, Hosaka M, Fujishima F, Sakuma J, Ogasawara S, Watanabe M, Sasahara Y, Kure S, Kato Y (March 2014). "IDH2 and TP53 mutations are correlated with gliomagenesis in a patient with Maffucci syndrome". Cancer Sci. 105 (3): 359–62. doi:10.1111/cas.12337. PMC 4317937. PMID 24344754.
  13. Pansuriya TC, van Eijk R, d'Adamo P, van Ruler MA, Kuijjer ML, Oosting J, Cleton-Jansen AM, van Oosterwijk JG, Verbeke SL, Meijer D, van Wezel T, Nord KH, Sangiorgi L, Toker B, Liegl-Atzwanger B, San-Julian M, Sciot R, Limaye N, Kindblom LG, Daugaard S, Godfraind C, Boon LM, Vikkula M, Kurek KC, Szuhai K, French PJ, Bovée JV (November 2011). "Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome". Nat. Genet. 43 (12): 1256–61. doi:10.1038/ng.1004. PMC 3427908. PMID 22057234.
  14. Al-Katib S, Al-Faham Z, Grant P, Palka JC (June 2015). "The Appearance of Maffucci Syndrome on 18F-FDG PET/CT". J Nucl Med Technol. 43 (2): 131–2. doi:10.2967/jnmt.114.146480. PMID 25537758.
  15. 15.0 15.1 15.2 15.3 Emrick LT, Murphy L, Shamshirsaz AA, Ruano R, Cassady CI, Liu L, Chang F, Sutton VR, Li M, Van den Veyver IB (October 2014). "Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes". Am. J. Med. Genet. A. 164A (10): 2633–7. doi:10.1002/ajmg.a.36672. PMC 4496426. PMID 25044986.
  16. 16.0 16.1 16.2 Sarici D, Akin MA, Kurtoglu S, Tubas F, Sarici SU (2014). "A Neonate with CLOVES Syndrome". Case Rep Pediatr. 2014: 845074. doi:10.1155/2014/845074. PMC 4221976. PMID 25400966.
  17. 17.0 17.1 Alomari AI, Burrows PE, Lee EY, Hedequist DJ, Mulliken JB, Fishman SJ (August 2010). "CLOVES syndrome with thoracic and central phlebectasia: increased risk of pulmonary embolism". J. Thorac. Cardiovasc. Surg. 140 (2): 459–63. doi:10.1016/j.jtcvs.2010.04.023. PMID 20537357.
  18. 18.0 18.1 Gopal B, Keshava SN, Selvaraj D (2015). "A rare newly described overgrowth syndrome with vascular malformations-Cloves syndrome". Indian J Radiol Imaging. 25 (1): 71–3. doi:10.4103/0971-3026.150166. PMC 4329693. PMID 25709171.
  19. Kurek KC, Luks VL, Ayturk UM, Alomari AI, Fishman SJ, Spencer SA, Mulliken JB, Bowen ME, Yamamoto GL, Kozakewich HP, Warman ML (June 2012). "Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome". Am. J. Hum. Genet. 90 (6): 1108–15. doi:10.1016/j.ajhg.2012.05.006. PMC 3370283. PMID 22658544.
  20. 20.0 20.1 20.2 Rocha R, Estrella M, Amaral D, Barbosa AM, Abreu M (2017). "Proteus syndrome". An Bras Dermatol. 92 (5): 717–720. doi:10.1590/abd1806-4841.20174496. PMC 5674710. PMID 29166516. Vancouver style error: initials (help)
  21. 21.0 21.1 El-Sobky TA, Elsayed SM, El Mikkawy DM (December 2015). "Orthopaedic manifestations of Proteus syndrome in a child with literature update". Bone Rep. 3: 104–108. doi:10.1016/j.bonr.2015.09.004. PMC 5365241. PMID 28377973.
  22. 22.0 22.1 22.2 Hannoush H, Sachdev V, Brofferio A, Arai AE, LaRocca G, Sapp J, Sidenko S, Brenneman C, Biesecker LG, Keppler-Noreuil KM (January 2015). "Myocardial fat overgrowth in Proteus syndrome". Am. J. Med. Genet. A. 167A (1): 103–10. doi:10.1002/ajmg.a.36773. PMC 4275354. PMID 25377688.
  23. Sarman ZS, Yuksel N, Sarman H, Bayramgurler D (June 2014). "Proteus syndrome: report of a case with developmental glaucoma". Korean J Ophthalmol. 28 (3): 272–4. doi:10.3341/kjo.2014.28.3.272. PMC 4038735. PMID 24882963.
  24. Lindhurst MJ, Yourick MR, Yu Y, Savage RE, Ferrari D, Biesecker LG (December 2015). "Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome". Sci Rep. 5: 17162. doi:10.1038/srep17162. PMC 4675973. PMID 26657992.
  25. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean L, Stephens K, Amemiya A, Biesecker LG, Sapp JC. PMID 22876373. Vancouver style error: initials (help); Missing or empty |title= (help)
  26. 26.0 26.1 26.2 26.3 Gontijo GM, Pinto CA, Rogatto SR, Cunha IW, Aguiar S, Alves CA (2013). "Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in infant--case report". An Bras Dermatol. 88 (6): 982–5. doi:10.1590/abd1806-4841.20132730. PMC 3900354. PMID 24474112.
  27. 27.0 27.1 Peiretti V, Mussa A, Feyles F, Tuli G, Santanera A, Molinatto C, Ferrero GB, Corrias A (2013). "Thyroid involvement in two patients with Bannayan-Riley-Ruvalcaba syndrome". J Clin Res Pediatr Endocrinol. 5 (4): 261–5. doi:10.4274/Jcrpe.984. PMC 3890226. PMID 24379037.
  28. 28.0 28.1 28.2 Sagi SV, Ballard DD, Marks RA, Dunn KR, Kahi CJ (January 2014). "Bannayan Ruvalcaba Riley Syndrome". ACG Case Rep J. 1 (2): 90–2. doi:10.14309/crj.2014.11. PMC 4435287. PMID 26157835.
  29. 29.0 29.1 Downey C, López-Gutiérrez JC, Roé-Crespo E, Puig L, Baselga E (July 2018). "Lower lip capillary malformation associated with lymphatic malformation without overgrowth: Part of the spectrum of CLAPO syndrome". Pediatr Dermatol. 35 (4): e243–e244. doi:10.1111/pde.13514. PMID 29766551.
  30. 30.0 30.1 Rodriguez-Laguna L, Ibañez K, Gordo G, Garcia-Minaur S, Santos-Simarro F, Agra N, Vallespín E, Fernández-Montaño VE, Martín-Arenas R, Del Pozo Á, González-Pecellín H, Mena R, Rueda-Arenas I, Gomez MV, Villaverde C, Bustamante A, Ayuso C, Ruiz-Perez VL, Nevado J, Lapunzina P, Lopez-Gutierrez JC, Martinez-Glez V (August 2018). "CLAPO syndrome: identification of somatic activating PIK3CA mutations and delineation of the natural history and phenotype". Genet. Med. 20 (8): 882–889. doi:10.1038/gim.2017.200. PMID 29446767.