Advertisement

European Journal of Pediatrics

, Volume 177, Issue 9, pp 1395–1398 | Cite as

Fern-shaped patch as a hallmark of blue rubber bleb nevus syndrome in neonatal venous malformations

  • Marta Ivars
  • Ana Martin-Santiago
  • Eulalia Baselga
  • Laurent Guibaud
  • Juan Carlos López-Gutiérrez
Short Communication

Abstract

Blue rubber bleb nevus syndrome (BRBNS) is a rare congenital vascular disease associated with important morbidity and non-insignificant risk of mortality in cases of severe gastrointestinal or neurological involvement. Early diagnosis in the neonatal period can be difficult as very often skin lesions appear progressively during childhood having no correlation with gastrointestinal lesion development. The appearance of one large venous malformation (VM) in the neonatal period has suggested a characteristic finding of this syndrome. The objective of the study was to identify a specific clinical sign in the congenital venous malformations (VMs) of the BRBNS to distinguish them from the conventional VMs. Clinical histories of all patients diagnosed with BRBNS were reviewed, including those who presented a large VM at birth. Clinical characteristics of congenital VM associated with BRBNS were recorded. Five patients with BRBNS were found to have a large VM since birth. All of them presented a fern-shaped patch over the surface of the VM.

Conclusion: The finding of this macroscopic sign in the evaluation of the newborn with a VM could be considered as a guiding syndromic herald which should raise suspicion for BRBNS and allow for more accurate evaluation and surveillance for complications.

What is Known:

BRBNS is a rare vascular disease associated with important morbidity and non-insignificant risk of mortality in cases of severe gastrointestinal or neurological involvement.

Early diagnosis in the neonatal period can be difficult as very often skin lesions appear progressively during childhood having no correlation with gastrointestinal lesion development.

What is New:

Recognition of a fern-shaped patch in neonates with a VM should raise suspicion for BRBNS and allow for more accurate evaluation and surveillance for complications.

Keywords

Blue rubber bleb nevus syndrome Dominant venous malformation Fern-shaped patch Hallmark Newborn Congenital 

Abbreviations

BRBNS

Blue rubber bleb nevus syndrome

VM

Venous malformation

VMs

Venous malformations

Notes

Authors’ contributions

All contributors have read and approved the submission to this journal.

Dr. López-Gutiérrez and Dr. Ivars, had full access to all data in the study and take responsibility for the integrity of the data.

Study concept and design: Dr. López-Gutiérrez and Dr. Ivars.

Acquisition of data: all authors.

Analysis and interpretation of data: Dr. López-Gutiérrez and Dr. Ivars.

Drafting of the manuscript: Dr. Ivars.

Critical revision of the manuscript for important intellectual content: all authors.

Study supervision: all authors.

References

  1. 1.
    Apak H, Celkan T, Özkan A, Yildiz I, Aydemir EH, Ozdil S, Kuruoglu S (2004) Blue rubber bleb nevus syndrome associated with consumption coagulopathy: treatment with interferon. Dermatology 208:345–348.  https://doi.org/10.1159/000077846 CrossRefPubMedGoogle Scholar
  2. 2.
    Ballieux F, Boon LM, Vikkula M (2015) Blue bleb rubber nevus syndrome. In: Handbook of clinical neurology. pp 223–230Google Scholar
  3. 3.
    Ciebiera M, Kucińska-Chahwan A, Piwowar W, Kalcowska A, Roszkowski T, Jakiel G (2016) Blue rubber bleb nevus syndrome diagnosed prenatally as an epignathus. J Craniofac Surg 27:e737–e738.  https://doi.org/10.1097/SCS.0000000000003069 CrossRefPubMedGoogle Scholar
  4. 4.
    Esposito C, Giurin I, Farina A, Ascione G, Miele E, Staiano A, di Benedetto V, Settimi A (2012) Blue rubber bleb nevus: an uncommon cause of intestinal intussusception. Eur J Pediatr 171:1139–1140.  https://doi.org/10.1007/s00431-012-1706-8 CrossRefPubMedGoogle Scholar
  5. 5.
    Fishman SJ, Smithers CJ, Folkman J, Lund DP, Burrows PE, Mulliken JB, Fox VL (2005) Blue rubber bleb nevus syndrome: surgical eradication of gastrointestinal bleeding. Ann Surg 241:523–528CrossRefPubMedPubMedCentralGoogle Scholar
  6. 6.
    Nahm WK, Moise S, Eichenfield LF, Paller AS, Nathanson L, Malicki DM, Friedlander SF (2004) Venous malformations in blue rubber bleb nevus syndrome: variable onset of presentation. J Am Acad Dermatol 50:S101–S106.  https://doi.org/10.1016/S0190 CrossRefPubMedGoogle Scholar
  7. 7.
    Ocampo-Garza J, Salas-Alanís JC, Ponce-Camacho MA, et al (2016) Fatal outcome from brain vascular lesions in a neonate with blue rubber bleb nevus syndrome. Pediatr DermatolGoogle Scholar
  8. 8.
    Patel RC, Zynger DL, Laskin WB (2009) Blue rubber bleb nevus syndrome: novel lymphangiomatosis-like growth pattern within the uterus and immunohistochemical analysis. Hum Pathol 40:413–417.  https://doi.org/10.1016/j.humpath.2008.05.019 CrossRefPubMedGoogle Scholar
  9. 9.
    Ramírez M, López Gutiérrez JC, Diaz M, Soto C, Miguel M, de la Torre Ramos CA, Barrena S, Ros Z, Tovar JA (2010) Bean or blue rubber blue nevus syndrome. Presentation of 6 patients. Cir Pediatr 23:241–244PubMedGoogle Scholar
  10. 10.
    Salloum R, Fox CE, Alvarez-Allende CR, Hammill AM, Dasgupta R, Dickie BH, Mobberley-Schuman P, Wentzel MS, Chute C, Kaul A, Patel M, Merrow AC, Gupta A, Whitworth JR, Adams DM (2016) Response of blue rubber bleb nevus syndrome to sirolimus treatment. Pediatr Blood Cancer 63:1911–1914.  https://doi.org/10.1002/pbc.26049 CrossRefPubMedGoogle Scholar
  11. 11.
    Shams PN, Cugati S, Wells T, Huilgol S, Selva D (2015) Orbital varix thrombosis and review of orbital vascular anomalies in blue rubber bleb nevus syndrome. Ophthal Plast Reconstr Surg 31:e82–e86.  https://doi.org/10.1097/IOP.0000000000000107 CrossRefPubMedGoogle Scholar
  12. 12.
    Soblet J, Kangas J, Nätynki M, Mendola A, Helaers R, Uebelhoer M, Kaakinen M, Cordisco M, Dompmartin A, Enjolras O, Holden S, Irvine AD, Kangesu L, Léauté-Labrèze C, Lanoel A, Lokmic Z, Maas S, McAleer MA, Penington A, Rieu P, Syed S, van der Vleuten C, Watson R, Fishman SJ, Mulliken JB, Eklund L, Limaye N, Boon LM, Vikkula M (2017) Blue rubber bleb nevus (BRBN) syndrome is caused by somatic TEK (TIE2) mutations. J Invest Dermatol 137:207–216.  https://doi.org/10.1016/j.jid.2016.07.034 CrossRefPubMedGoogle Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of DermatologyUniversity Clinic of Navarra (Madrid)MadridSpain
  2. 2.Department of DermatologyUniversity Hospital Son EspasesMallorcaSpain
  3. 3.Department of DermatologyUniversity Hospital Santa Creu i Sant PauBarcelonaSpain
  4. 4.Department of RadiologyFemme-Mère-Enfant HospitalLyonSpain
  5. 5.Department of Pediatric SurgeryUniversity Hospital La PazMadridSpain

Personalised recommendations