VASCA Working Group, built upon Multidisciplinary Centres of Excellence for Vascular Anomalies




VASCA-WG is chaired by Pr. Laurence BOON and Pr. Miikka VIKKULA, Centre for Vascular Anomalies (FR / EN), Cliniques Universitaires Saint-Luc, Brussels, Belgium. The VASCA-WG is co-chaired by Pr. Leo J. SCHULTZE KOOL, Radboudumc Expert Center for Hemangioma and Vascular Anomalies (HECOVAN), Nijmegen, Netherlands. VASCA-WG cooperates with the Patient-WG, , whose representative participating to the WG is Caroline VAN DEN BOSCH, HEVAS.

The Centre for Vascular Anomalies, Cliniques Universitaires Saint-Luc, is 25 years old this year 2016, and combines specialists from various disciplines: surgery, genetics, paediatrics, dermatology, radiology, interventional radiology, ENT, etc.

The Centre of Reference is active in ISSVA, the International Society of the Study of Vascular Anomalies, which was based in Belgium until 2015, and is now homed in the USA. We have been in the scientific committee, and the Centre is now in the ISSVA Board.

Vascular anomalies are badly known disorders, and thus patients often run around trying to find a physician who knows their disease. To help them, the Center for Vascular Anomalies have also founded a Patient Association VASCAPA.

We have a major international network with clinicians within the EU and the rest of the world, and have been implicated in the identification of most of the genes for these pathologies: PubMed

We have also ongoing clinical trials, and had a break through with rapamycin last year. Boscolo et al., JCI 2015

For all these and many other reasons, a Network that units the different Multidisciplinary Centers of Reference for Vascular Anomalies in the framework of a broader Network of Centres of Excellence in Rare Multisystemic Vascular Diseases in the EU countries and beyond is extremely important.

This was actually discussed at the Controversies on Vascular Anomalies meeting in May 2015, New York : worldwide, ISSVA should start endorsing Centers for Vascular Anomalies and a network should be created in between them. Thus, the ERN initiative is perfectly timely for us.

The Center for Vascular Anomalies at Cliniques universitaires Saint-Luc in Brussels Belgium takes care of a whole variaty of pathologies within the field of Vascular anomalies (see: Wassef et al., Revised classification of Vascular Anomalies, 2015 Pediatrics, and ISSVA web-site).

The Rare Diseases included in this ERN Diseases Working Group are (non exhaustive list):

venous malformation (VM, orphanet: 211252, MIM: 600195, 600221, ICD-10-CM Q27.9), cutaneo-mucosal venous malformation (VMCM, orphanet: 2451, ICD‐11: 1891766655), Blue Rubber Bleb Nevus syndrome (BRBN, orphanet: 1059, ICD‐11: 1112312815), lymphatic malformation (LM, orphanet: 2415, ICD‐11: 1456264474, 1525487462, 1796778763 ), capillary malformation (CM; orphanet: 211247, ICD‐10: Q82.5), arteriovenous malformation (AVM, orphanet: 211266; ICD‐10: Q27.3, Q28.2), diffuse capillary malformation with hypertrophy (DCMO, MIM: 614261, 606247 ), capillary malformation-arteriovenous malformation (CM-AVM, orphanet: 137667, ICD‐11: 709093020 ), capillary-venous malformation (CVM, ICD-10-Q27.9 ), Parkes-Weber syndrome (PWS, ICD-9-CM-759.6), Sturge-Weber syndrome (SWS, orphanet 3205, ICD‐10: Q85.8), glomuvenous malformation (GVM, orphanet: 83454, ICD-10: Q27.8) capillaro-lymphatic-venous malformation (CLVM also known as Klippel-Trenauany syndrome, orphanet: 2346, ICD‐10: Q87.2), Maffucci syndrome (Orphanet: 163634, ICD‐10: Q78.4), CLOVES syndrome (Orphanet: 140944, IDC-10:Q87.3), Proteus syndrome (Orphanet: 744, ICD‐11: 760267333), Macrocephaly-capillary malformation (M-CM, Orphanet: 60040, ICD‐10: Q87.3), Cutis Marmorata Telangiectatica Congenita (CTMC, ICD-10:Q82.8: ), PTEN hamartoma tumor syndrome (PHTS, orphanet: 109 / 201, ICD‐11: 892873372), cerebral cavernous malformation (CCM, orphanet: 221061 / 164, ICD‐11: 2068071376) with or without hyperkeratotic cutaneous capillary-venous malformations (HCCVM, ICD: ), verrucous venous malformation (VVM, ICD-11: not yet included), hereditary haemorrhagic telangiectasias (HHT, orphanet: 774, ICD‐10: I78.0), generalized lymphatic anomaly (GLA, ICD‐11: 1456264474, 1525487462, 1796778763), Gorham-Stout syndrome (GSS, ICD-10:M89.5), infantile hemangioma (IH, ORPHA210592, 210589), rapidly involuting congenital hemangioma (RICH, ICD-10: D18.0), non-involuting congenital hemangioma (NICH, ICD-10: D18.0), tufted angioma (TA), Kaposiform hemangioendothelioma (KHE), pyogenic granuloma (PG), etc.
It also manages various types of primary pediatric and adult lymphedemas, including Nonne-Milroy disease (Orphanet: 79452, ICD-10: Q82.0), etc.

In this ERN, there is a specific WG for Pediatric and Primary Lymphedemas.

Hereditary hemorrhagic telangiectasia (HHT, orphanet: 774, ICD‐10: I78.0) is also a vascular anomaly, but for historical reasons specialised centers have been build up for that single diseases on the past. HHT is included as a separate WG within the ERN (see HHT WG).

Bases for the estimated incidence and prevalence numbers: 500 Million inhabitants within European union with about 6 million newborns annually.

sub-thematic areas of expertise Rare or complex disease(s) or condition(s) or highly specialized interventions Code/ICD/ Orphacode / Group of Codes

Incidence (Number of cases / year)

in the EU)



 (in the EU)

VASCA Venous Malformation VM, orphanet: 211252, MIM: 600195, 600221, ICD-10-CM Q27.9 1 200 100 000
VASCA Cutaneo-mucosal venous malformation VMCM, orphanet: 2451, ICD‐11: 1891766655 6



VASCA Blue Rubber Bleb Nevus syndrome BRBN, orphanet: 1059, ICD‐11: 1112312815 6



VASCA Lymphatic malformation LM, orphanet: 2415, ICD‐11: 1456264474, 1525487462, 1796778763 600 50 000
VASCA Complicated Capillary malformation CM; orphanet: 211247, ICD‐10: Q82.5 60 5000
VASCA Arteriovenous malformation AVM, orphanet: 211266; ICD‐10: Q27.3, Q28.2 120 10 000
VASCA Diffuse capillary malformation with hypertrophy DCMO, MIM: 614261, 606247




10 000
VASCA Capillary malformation-arteriovenous malformation CM-AVM, orphanet: 137667, ICD‐11: 709093020 120

10 000


VASCA Capillary-venous malformation CVM, ICD-10-Q27.9 60 5 000
VASCA Parkes-Weber syndrome PWS, ICD-9-CM-759.6 30 2 500
VASCA Sturge-Weber syndrome SWS, orphanet 3205, ICD‐10: Q85.8



10 000
VASCA Glomuvenous malformation GVM, orphanet: 83454, ICD-10: Q27.8 30

2 500



VASCA Capillaro-lymphatic-venous malformation CLVM also known as Klippel-Trenauany syndrome, orphanet: 2346, ICD‐10: Q87.2 60 5 000
VASCA Maffucci syndrome Orphanet: 163634, ICD‐10: Q78.4 6 500
VASCA CLOVES syndrome Orphanet: 140944, IDC-10:Q87.3



5 000
VASCA Proteus syndrome Orphanet: 744, ICD‐11: 760267333 6 500
VASCA Macrocephaly-capillary malformation M-CM, Orphanet: 60040, ICD‐10: Q87.3



1 000
VASCA Cutis Marmorata Telangiectatica Congenita CTMC, ICD-10:Q82.8: 12

1 000


VASCA PTEN hamartoma tumor syndrome PHTS, orphanet: 109 / 201, ICD‐11: 892873372 30 2 500
VASCA Cerebral cavernous malformation CCM, orphanet: 221061 / 164, ICD‐11: 2068071376 600 50 000
VASCA Cerebral cavernous malformation with or without hyperkeratotic cutaneous capillary-venous malformations HCCVM, ICD: not yet included 60 5 000
VASCA Verrucous venous malformation VVM, ICD-11: not yet included 60 5 000
VASCA Generalized lymphatic anomaly GLA, ICD‐11: 1456264474, 1525487462, 1796778763 6



VASCA Gorham-Stout syndrome GSS, ICD-10:M89.5 6 500
VASCA Complicated Infantile hemangioma IH, ORPHA210592, 210589 600 50 000
VASCA Rapidly involuting congenital hemangioma RICH, ICD-10: D18.0 60 5 000
VASCA Non-involuting congenital hemangioma NICH, ICD-10: D18.0 20 500
VASCA Tufted angioma TA



VASCA Kaposiform hemangioendothelioma 3 250
VASCA Pyogenic granuloma 1200 100 000

All HCP in the VASCA-WG are covering this sub-thematic area of expertise.




Pr. Laurence M. BOON
Pr. Miikka VIKKULA
Coordonator Center for Vascular Anomalies
Division of Plastic Surgery
Cliniques universitaires Saint-Luc
Human Molecular Genetics, de Duve Institute
Université catholique de Louvain
Brussels, Belgium




Expertcenter for Hemangioma and Vascular Anomalies (Hecovan)
Radboud university medical center
Nijmegen, Netherlands



MD Director of Rare Diseases Center Rare vascular anomalies programme
Helsinki University Hospital
Helsinki, Finland



Pr. Dr. Jochen Rößler
Pediatric Hematology/Oncology
Center of Pediatrics and Adolescent Medicine
University Medical Center Freiburg
Freiburg, Germany



Dermatology Department
Our Lady’s Children’s Hospital Crumlin
Dublin, Ireland



Resp. Alta Specializzazione Dermatologia Interventistica
Responsabile UOC di Dermatologia
Bambino Gesù Children’s Hospital, I.R.C.C.S
Rome, Italy



Patient co-chair (ePAG)




Pediatric surgeon
Astrid Lindgren Children’s Hospital
Dept. of pediatric surgery
Karolinska University Hospital
Stockholm, Sweden

  1. Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee. Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies. Pediatrics. 2015 Jul;136(1):e203-14. doi: 10.1542/peds.2014-3673. Epub 2015 Jun 8. Review.
  2. On the ISSVA web-site, the classification is available with more detailed genetic data: here
  3. Stillo et al. Vascular Anomalies Guidelines by the Italian Society for the Study of Vascular Anomalies (SISAV). Angiology, volume 34. April 2015, Suppl 1 to issue No. 2. (These guidelines will be discussed within the VASCA-WG for further development so as to establish first European guidelines).
  4. A. Elajmi, P. Clapuyt, F. Hammer, A.-C. Bataille, B. Lengele, L.M. Boon. Prise en charge des anomalies vasculaires chez l’enfant. Management of vascular anomalies in children. Annales de chirurgie plastique esthétique (2016). (These guidelines will be discussed within the VASCA-WG for further development so as to establish first European guidelines).

The VASCA-WG will also be working in tight collaboration with ISSVA, which is setting up working groups for establishment of best practice guidelines for various vascular anomalies.

Pills of Knowledge (PoK) are the deliverable for VASCERN Work Package 4 on Pills of Knowledge, defined as short single video lessons (of approximately 3-5 minutes long) in which an expert talks about a specific topic that has been selected and validated by the Rare Disease Working Groups (RDWGs).

The PubMed List of 132 VASCA-WG publications from the Working Group Members is provided, and emphasizes the importance of continued clinician education.

VASCA-WG Important References

Vascular Anomalies Classification: Recommendations From the International Society for the Study of Vascular Anomalies.
Wassef M, Blei F, Adams D, Alomari A, Baselga E, Berenstein A, Burrows P, Frieden IJ, Garzon MC, Lopez-Gutierrez JC, Lord DJ, Mitchel S, Powell J, Prendiville J, Vikkula M; ISSVA Board and Scientific Committee.
Pediatrics. 2015 Jul;136(1):e203-14. doi: 10.1542/peds.2014-3673. Epub 2015 Jun 8. Review.

Mulliken & Young’s Vascular Anomalies: Hemangiomas and Malformations, 2nd edition (Book). Editors: Mulliken JB, Burrows PE, Fishman S.
Oxford University Press, New York, 2013, pp 1-1118.

Disorders affecting cutaneous vasculature.
Dompmartin A, Revencu N, Boon LM, Vikkula M.
In: Griffiths et al, Rook’s Textbook of Dermatology, 8th ed, section 5/chapter 73, 2016.

Vascular Anomalies.
Boon LM, Vikkula M.
In : Fitzpatrick’s Dermatology in General Medicine, 8th edition, McGraw-Hill Professional Publishing. Editors: Klaus Wolff, Lowell A. Goldsmith, Stephen I. Katz, Barbara A. Gilchrest, Amy S. Paller, David J. Leffell. 2012, vol 2, section 28, chapter 172, p 2076-2094.

Vascular malformations.
Boon LM, Enjolras O, Mulliken JB, Vikkula M.
In: Harper, Textbook of Pediatric Dermatology, 3ed. Editors: Irvine A, Yan A and Hoeger P, Wiley-Blackwell 2011, vol 1, chapter 112, pp 112.1-112.24.


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