Skip to main content
SpringerLink
Log in

Overgrowth Syndromes Associated with Vascular Anomalies

  • Chapter
  • First Online:
Vascular Anomalies

  • 424 Accesses

Abstract

Overgrowth syndromes associated with vascular anomalies present special challenges to the patient and the treatment team. Proper diagnosis and management by a specialized interdisciplinary team offer the best functional outcome but require a thorough understanding of these diseases. Clinical exam remains essential for diagnosis as there is clinical overlap among various syndromes and variable severity and degrees of overgrowth. This chapter will cover major overgrowth syndromes along with diagnosis and current treatment options.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Hardcover Book
USD 139.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Abbreviations

AVF:

Arteriovenous fistula

AVM:

Arteriovenous malformation

BRRS:

Bannayan-Riley-Ruvalcaba syndrome

CBC:

Complete blood count

CLOVES:

Congenital lipomatous overgrowth, vascular anomalies, epidermal nevi, and skeletal and/or spinal anomalies

CM:

Capillary malformation

CM-AVM:

Capillary malformation-arteriovenous malformation

CRP:

C-reactive protein

CTH:

Cerebellar tonsillar herniation

EKG:

Electrocardiogram

IVC:

Inferior vena cava

KTS:

Klippel-Trenaunay syndrome

LM:

Lymphatic malformation

LMWH:

Low-molecular-weight heparin

M-CM:

Macrocephaly-capillary malformation syndrome

MRI:

Magnetic resonance imaging

NSAIDs:

Nonsteroidal anti-inflammatory drugs

PHTS:

PTEN hamartoma tumor syndrome

PKWS:

Parkes Weber syndrome

PS:

Proteus syndrome

US:

Ultrasound

VM:

Venous malformation

References

  1. Peterman CM, Fevurly RD, Alomari AI, Trenor CC 3rd, Adams D, Vadeboncoeur S, Liang M, Greene AK, Mulliken JB, Fishman SJ. Sonographic screening for Wilms tumor in children with CLOVES syndrome. Pediatr Blood Cancer. 2017;64(12) https://doi.org/10.1002/pbc.26684. Epub 2017 Jun 19. PubMed PMID: 28627003.

  2. Jacob AG, et al. Klippel-Trenaunay syndrome: spectrum and management. Mayo Clin Proc. 1998;73(1):28–36.

    Article  CAS  Google Scholar 

  3. Oduber CE, et al. The persistent embryonic vein in Klippel-Trenaunay syndrome. Vasc Med. 2013;18(4):185–91.

    Article  Google Scholar 

  4. Sapp JC, et al. Newly delineated syndrome of congenital lipomatous overgrowth, vascular malformations, and epidermal nevi (CLOVE syndrome) in seven patients. Am J Med Genet A. 2007;143A(24):2944–58.

    Article  Google Scholar 

  5. Kurek KC, et al. Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet. 2012;90(6):1108–15.

    Article  CAS  Google Scholar 

  6. Lee JH, et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet. 2012;44(8):941–5.

    Article  CAS  Google Scholar 

  7. Moore CA, et al. Macrocephaly-cutis marmorata telangiectatica congenita: a distinct disorder with developmental delay and connective tissue abnormalities. Am J Med Genet. 1997;70(1):67–73.

    Article  CAS  Google Scholar 

  8. Clayton-Smith J, et al. Macrocephaly with cutis marmorata, haemangioma and syndactyly–a distinctive overgrowth syndrome. Clin Dysmorphol. 1997;6(4):291–302.

    Article  CAS  Google Scholar 

  9. Robertson SP, et al. Macrocephaly–cutis marmorata telangiectatica congenita: report of five patients and a review of the literature. Clin Dysmorphol. 2000;9(1):1–9.

    Article  CAS  Google Scholar 

  10. Franceschini P, et al. Macrocephaly-cutis marmorata telangiectatica congenita without cutis marmorata? Am J Med Genet. 2000;90(4):265–9.

    Article  CAS  Google Scholar 

  11. Conway RL, et al. Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A. 2007;143A(24):2981–3008.

    Article  Google Scholar 

  12. Garavelli L, et al. MRI and neurological findings in macrocephaly-cutis marmorata telangiectatica congenita syndrome: report of ten cases and review of the literature. Genet Couns. 2005;16(2):117–28.

    CAS  PubMed  Google Scholar 

  13. Eerola I, et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet. 2003;73(6):1240–9.

    Article  CAS  Google Scholar 

  14. Revencu N, et al. RASA1 mutations and associated phenotypes in 68 families with capillary malformation-arteriovenous malformation. Hum Mutat. 2013;34(12):1632–41.

    Article  CAS  Google Scholar 

  15. Amyere M, et al. Germline loss-of-function mutations in EPHB4 cause a second form of Capillary Malformation-Arteriovenous Malformation (CM-AVM2) deregulating RAS-MAPK signaling. Circulation. 2017;136(11):1037–48.

    Article  CAS  Google Scholar 

  16. Eng C. PTEN Hamartoma tumor syndrome. In: Adam MP, Ardinger HH, Pagon RA, editors. GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 1993–2017.

    Google Scholar 

  17. Mester J, Eng C. When overgrowth bumps into cancer: the PTEN-Opathies. Am J Med Genet C Semin Med Genet. 2013;163C(2):114–21.

    Article  Google Scholar 

  18. Hammill AM, et al. Sirolimus for the treatment of complicated vascular anomalies in children. Pediatr Blood Cancer. 2011;57(6):1018–24.

    Article  Google Scholar 

  19. Pilarski R, et al. Cowden syndrome and the PTEN hamartoma tumor syndrome: systematic review and revised diagnostic criteria. J Natl Cancer Inst. 2013;105(21):1607–16.

    Article  CAS  Google Scholar 

  20. Tan WH, et al. The spectrum of vascular anomalies in patients with PTEN mutations: implications for diagnosis and management. J Med Genet. 2007;44(9):594–602.

    Article  CAS  Google Scholar 

  21. Kurek KC, et al. PTEN hamartoma of soft tissue: a distinctive lesion in PTEN syndromes. Am J Surg Pathol. 2012;36(5):671–87.

    Article  Google Scholar 

  22. Orloff MS, et al. Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes. Am J Hum Genet. 2013;92(1):76–80.

    Article  CAS  Google Scholar 

  23. Yap TA, et al. Targeting the PI3K-AKT-mTOR pathway: progress, pitfalls, and promises. Curr Opin Pharmacol. 2008;8(4):393–412.

    Article  CAS  Google Scholar 

  24. Adams DM, et al. Efficacy and safety of Sirolimus in the treatment of complicated vascular anomalies. Pediatrics. 2016;137(2):e20153257.

    Article  Google Scholar 

  25. Barclay SF, Inman KW, Luks VL, et al. A somatic activating NRAS variant associated with kaposiform lymphangiomatosis. Genet Med. 2018;21(7):1517–24. https://doi.org/10.1038/s41436-018-0390-0.. [Epub ahead of print

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Hematology, Hemangioma and Vascular Malformation Center, University of Cincinnati College of Medicine, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

    Adrienne M. Hammill

  2. Orthopedic Center, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    Samantha A. Spencer

  3. Department of Radiology, Boston Children’s Hospital, Harvard Medical School, Boston, MA, USA

    Ahmad Alomari

Authors
  1. Adrienne M. Hammill
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Samantha A. Spencer
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Ahmad Alomari
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Adrienne M. Hammill .

Editor information

Editors and Affiliations

  1. Dana-Farber Cancer Institute, Boston Children’s Hospital, Boston, MA, USA

    Cameron C. Trenor III

  2. Dana-Farber Cancer Institute, Boston Children’s Hospital, Boston, MA, USA

    Denise M. Adams

Rights and permissions

Reprints and permissions

Copyright information

© 2020 Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Hammill, A.M., Spencer, S.A., Alomari, A. (2020). Overgrowth Syndromes Associated with Vascular Anomalies. In: Trenor III, C., Adams, D. (eds) Vascular Anomalies. Springer, Cham. https://doi.org/10.1007/978-3-030-25624-1_12

Download citation

  • DOI: https://doi.org/10.1007/978-3-030-25624-1_12

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-25622-7

  • Online ISBN: 978-3-030-25624-1

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation