Skip to main content

Advertisement

SpringerLink
Log in

The vanishing port-wine stain birthmark—consideration for a rare type of congenital vascular anomaly

  • Case Report
  • Published:
European Journal of Plastic Surgery Aims and scope Submit manuscript

Abstract

Capillary malformations (MCs), also referred to as port-wine stains (PWSs), or port-wine birthmarks (PWBs) represent one of the most common congenital vascular birthmarks. They consist of ectatic postcapillary venules within the papillary and superficial reticular dermis. The pathogenesis is due to a somatic activating mutation in guanine nucleotide–binding protein G(q) subunit alpha which mosaically occurs in endothelial cells (ECs) during embryogenesis. As a true congenital vascular malformation, PWSs are always present at birth, appearing as a flat pink to red macula mostly arising in the head and neck unilaterally. Although lightening during the first few months of life is possible, these lesions generally stay stable or thicken and darken over time. Consequent functional impairment, tissue thickening, development of blebs, and psychological burden may be relevant, so early laser therapy should often be considered to deter progression. What we present here is a unique cohort of 10 children presented to the Vascular Birthmarks Foundation (VBF) in Latham, NY, between 2016 and 2021, who were followed over time for cutaneous vascular anomalies present at birth. The clinical features were strongly suggestive of PWSs. However, all 10 of these children showed a significant spontaneous regression of the lesions during the observational period. In four cases, there was complete resolution. According to the international literature, capillary malformations persist throughout life and typically grow and darken if early laser treatment is not initiated. Such spontaneous improvement is extremely rare after the first 6 months of life. In the present case series, we photographically documented this previously unreported circumstance.

Level of evidence: Level V, risk/prognostic study.

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2
Fig. 3
Fig. 4
Fig. 5
Fig. 6
Fig. 7
Fig. 8
Fig. 9
Fig. 10

Similar content being viewed by others

References

  1. Blei F (2017) ISSVA classification of vascular anomalies. In: Congenital vascular malformations: a comprehensive review of current management. pp 47–50

  2. International Society for the Study of Vascular Anomalies (2018) ISSVA classification for vascular anomalies. In: issva.org. https://www.issva.org/UserFiles/file/ISSVA-Classification-2018.pdf. Accessed 20 Aug 2021

  3. Wassef M, Blei F, Adams D et al (2015) Vascular anomalies classification: recommendations from the international society for the study of vascular anomalies. Pediatrics 136:e203–e214. https://doi.org/10.1542/peds.2014-3673

    Article  PubMed  Google Scholar 

  4. Kobayashi K, Nakao K, Kishishita S et al (2013) Vascular malformations of the head and neck. Auris Nasus Larynx 40:89–92. https://doi.org/10.1016/j.anl.2012.02.002

    Article  PubMed  Google Scholar 

  5. Stephens MR, Putterman E, Yan AC et al (2020) Acquired port-wine stains in six pediatric patients. Pediatr Dermatol 37:93–97. https://doi.org/10.1111/pde.14019

    Article  PubMed  Google Scholar 

  6. Dinehart SM, Parker RK, Herzberg AJ, Pappas AJ (1995) Acquired port-wine stains. Int J Dermatol 34:48–52. https://doi.org/10.1111/j.1365-4362.1995.tb04380.x

    Article  CAS  PubMed  Google Scholar 

  7. Antaya RJ, Elston DM (2019) Capillary malformation. https://emedicine.medscape.com/article/1084479-overview. Accessed 20 Aug 2021

  8. McCuaig CC (2017) Update on classification and diagnosis of vascular malformations. Curr Opin Pediatr 29:448–454. https://doi.org/10.1097/MOP.0000000000000518

    Article  PubMed  Google Scholar 

  9. Maguiness SM, Liang MG (2011) Management of capillary malformations. Clin Plast Surg 38:65–73. https://doi.org/10.1016/j.cps.2010.08.010

    Article  PubMed  Google Scholar 

  10. Lee JW, Chung HY, Cerrati EW et al (2015) The natural history of soft tissue hypertrophy, bony hypertrophy, and nodule formation in patients with untreated head and neck capillary malformations. Dermatologic Surg 41:1241–1245. https://doi.org/10.1097/DSS.0000000000000525

    Article  CAS  Google Scholar 

  11. Alper JC, Holmes LB (1983) The incidence and significance of birthmarks in a cohort of 4,641 newborns. Pediatr Dermatol 1:58–68. https://doi.org/10.1111/j.1525-1470.1983.tb01093.x

    Article  CAS  PubMed  Google Scholar 

  12. Nguyen V, Hochman M, Mihm MC et al (2019) The pathogenesis of port wine stain and Sturge Weber syndrome: complex interactions between genetic alterations and aberrant MAPK and PI3K activation. Int J Mol Sci 20:1–17. https://doi.org/10.3390/ijms20092243

    Article  CAS  Google Scholar 

  13. Lee JW, Chung HY (2018) Capillary malformations (portwine stains) of the head and neck: natural history, investigations, laser, and surgical management. Otolaryngol Clin North Am 51:197–211. https://doi.org/10.1016/j.otc.2017.09.004

    Article  PubMed  Google Scholar 

  14. Miller AC, Pit-Ten Cate IM, Watson HS, Geronemus RG (1999) Stress and family satisfaction in parents of children with facial port- wine stains. Pediatr Dermatol 16:190–197. https://doi.org/10.1046/j.1525-1470.1999.00051.x

    Article  CAS  PubMed  Google Scholar 

  15. Chapas AM, Eickhorst K, Geronemus RG (2007) Efficacy of early treatment of facial port wine stains in newborns: a review of 49 cases. Lasers Surg Med 39:563–568. https://doi.org/10.1002/lsm.20529

    Article  PubMed  Google Scholar 

  16. Lam SM, Williams EF (2004) Practical considerations in the treatment of capillary vascular malformations, or port wine stains. Facial Plast Surg 20:71–76. https://doi.org/10.1055/s-2004-822962

    Article  PubMed  Google Scholar 

  17. Batta K (2000) Management of large birthmarks. Semin Neonatol 5:325–332. https://doi.org/10.1053/siny.2000.0018

    Article  CAS  PubMed  Google Scholar 

  18. Eivazi B, Werner JA (2013) Management of vascular malformations and hemangiomas of the head and neck-an update. Curr Opin Otolaryngol Head Neck Surg 21:157–163. https://doi.org/10.1097/MOO.0b013e32835e15a9

    Article  PubMed  Google Scholar 

  19. Shirley MD, Tang H, Gallione CJ et al (2013) Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ. N Engl J Med 368:1971–1979. https://doi.org/10.1056/nejmoa1213507

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  20. Bichsel C, Bischoff J (2019) A somatic missense mutation in GNAQ causes capillary malformation. Curr Opin Hematol 26:179–184. https://doi.org/10.1097/MOH.0000000000000500

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Brouillard P, Vikkula M (2007) Genetic causes of vascular malformations. Hum Mol Genet 16:140–149. https://doi.org/10.1093/hmg/ddm211

    Article  CAS  Google Scholar 

  22. Cordoro KM, Speetzen LS, Koerper MA, Frieden IJ (2009) Physiologic changes in vascular birthmarks during early infancy: mechanisms and clinical implications. J Am Acad Dermatol 60:669–675. https://doi.org/10.1016/j.jaad.2008.11.020

    Article  PubMed  Google Scholar 

  23. Minkis K, Geronemus RG, Hale EK (2009) Port wine stain progression: a potential consequence of delayed and inadequate treatment? Lasers Surg Med 41:423–426. https://doi.org/10.1002/lsm.20788

    Article  PubMed  PubMed Central  Google Scholar 

  24. Smoller BR, Rosen S (1986) Port-wine stains. A disease of altered neural modulation of blood vessels? Arch Dermatol 122:177–179. https://doi.org/10.1001/archderm.122.2.177

    Article  CAS  PubMed  Google Scholar 

  25. Rydh M, Malm M, Jernbeck J, Dalsgaard C-J (1991) Ectatic blood vessels in port-wine stains lack innervation: possible role in pathogenesis. Plast Reconstr Surg 87:419–422. https://doi.org/10.1097/00006534-199103000-00003

    Article  CAS  PubMed  Google Scholar 

  26. Geronemus RG, Ashinoff R (1991) The medical necessity of evaluation and treatment of port-wine stains. J Dermatol Surg Oncol 17:76–79. https://doi.org/10.1111/j.1524-4725.1991.tb01597.x

    Article  CAS  PubMed  Google Scholar 

  27. Klapman MH, Yao JF (2001) Thickening and nodules in port-wine stains. J Am Acad Dermatol 44:300–302. https://doi.org/10.1067/mjd.2001.111353

    Article  CAS  PubMed  Google Scholar 

  28. Tannous Z, Rubeiz N, Kibbi AG (2010) Vascular anomalies: portwine stains and hemangiomas. J Cutan Pathol 37:88–95. https://doi.org/10.1111/j.1600-0560.2010.01519.x

    Article  PubMed  Google Scholar 

  29. Finley JL, Noe JM, Arndt KA, Rosen S (1984) Port-wine stains: morphologic variations and developmental lesions. Arch Dermatol 120:1453–1455. https://doi.org/10.1001/archderm.1984.01650470059013

    Article  CAS  PubMed  Google Scholar 

  30. Chen D, Hu XJ, Lin XX et al (2011) Nodules arising within port-wine stains: a clinicopathologic study of 31 cases. Am J Dermatopathol 33:144–151. https://doi.org/10.1097/DAD.0b013e3181e169f5

    Article  PubMed  Google Scholar 

  31. Wanitphakdeedecha R, Ng JNC, Yan C et al (2021) Quality of life and psychological effects of port-wine stain: a review of literature. Clin Cosmet Investig Dermatol 14:681–690. https://doi.org/10.2147/CCID.S315804

    Article  PubMed  PubMed Central  Google Scholar 

  32. Tan OT, Sherwood K, Gilchrest BA (1989) Treatment of children with port-wine stains using the flashlamp-pulsed tunable dye laser. N Engl J Med 320:416–421. https://doi.org/10.1056/nejm198902163200702

    Article  CAS  PubMed  Google Scholar 

  33. Faurschou A, Olesen AB, Gøtzsche PC, Hædersdal M (2008) Lasers and light sources for port-wine stains. Cochrane Database Syst Rev. https://doi.org/10.1002/14651858.CD007152

    Article  Google Scholar 

  34. Ho WS, Chan HH, Ying SY, Chan PC (2002) Laser treatment of congenital facial port-wine stains: long-term efficacy and complication in Chinese patients. Lasers Surg Med 30:44–47. https://doi.org/10.1002/lsm.10003

    Article  PubMed  Google Scholar 

  35. Ortiz AE, Nelson JS (2012) Port-wine stain laser treatments and novel approaches. Facial Plast Surg 28:611–620. https://doi.org/10.1055/s-0032-1329936

    Article  CAS  PubMed  Google Scholar 

  36. Mulligan PR, Prajapati HJS, Martin LG, Patel TH (2014) Vascular anomalies: classification, imaging characteristics and implications for interventional radiology treatment approaches. Br J Radiol 87:1–18. https://doi.org/10.1259/bjr.20130392

    Article  Google Scholar 

  37. Lanigan SW (1998) Port-wine stains unresponsive to pulsed dye laser: explanations and solutions. Br J Dermatol 139:173–177. https://doi.org/10.1046/j.1365-2133.1998.02351.x

    Article  CAS  PubMed  Google Scholar 

  38. Izikson L, Nelson SJ, Anderson RR (2009) Treatment of hypertrophic and resistant port wine stains with a 755nm laser: a case series of 20 patients. Lasers Surg Med 41:427–432. https://doi.org/10.1002/lsm.20793

    Article  PubMed  PubMed Central  Google Scholar 

  39. Cerrati EW, Teresa MO, Binetter D et al (2014) Surgical treatment of head and neck port-wine stains by means of a staged zonal approach. Plast Reconstr Surg 134:1003–1012. https://doi.org/10.1097/PRS.0000000000000629

    Article  CAS  PubMed  Google Scholar 

  40. Morelli JG, Tan OT, Margolis R et al (1986) Tunable dye laser (577 nm) treatment of port wine stains. Lasers Surg Med 6:94–99. https://doi.org/10.1002/lsm.1900060119

    Article  CAS  PubMed  Google Scholar 

  41. Swan BC, Robertson SJ, Tuxen A et al (2017) Pulsed dye laser treatment of capillary malformations in infants at 2-weekly versus 3-monthly intervals, reducing the need for general anaesthesia. Australas J Dermatol 58:214–218. https://doi.org/10.1111/ajd.12457

    Article  PubMed  Google Scholar 

  42. Bae YSC, Ng E, Geronemus RG (2016) Successful treatment of two pediatric port wine stains in darker skin types using 595 nm laser. Lasers Surg Med 48:339–342. https://doi.org/10.1002/lsm.22467

    Article  PubMed  Google Scholar 

  43. Shajil C, M Das J (2021) Nevus flammeus. StatPearls Publishing; 2021 January

  44. Callahan AB, Yoon MK (2012) Infantile hemangiomas: a review. Saudi J Ophthalmol 26:283–291. https://doi.org/10.1016/j.sjopt.2012.05.004

    Article  PubMed  PubMed Central  Google Scholar 

  45. Parsi K (2020) Kang M (2019) Vascular malformations. CRC Press, CRC Press, Boca Raton

    Google Scholar 

  46. Rozas-Muñoz E, Frieden IJ, Roé E et al (2016) Vascular stains: proposal for a clinical classification to improve diagnosis and management. Pediatr Dermatol 33:570–584. https://doi.org/10.1111/pde.12939

    Article  PubMed  Google Scholar 

  47. Krol A, MacArthur CJ (2005) Congenital hemangiomas. Arch Facial Plast Surg 7:307–311. https://doi.org/10.1001/archfaci.7.5.307

    Article  PubMed  Google Scholar 

  48. Amouri M, Mesrati H, Chaaben H, Masmoudi A (2017) Congenital hemangioma. Cutis 99:31–33

    Google Scholar 

  49. Leung AKC, Barankin B, Hon KL (2014) Persistent salmon patch on the forehead and glabellum in a Chinese adult. Case Rep Med 2014:10–13. https://doi.org/10.1155/2014/139174

    Article  Google Scholar 

  50. Haedersdal M, Efsen J, Gniadecka M et al (1998) Changes in skin redness, pigmentation, echostructure, thickness, and surface contour after 1 pulsed dye laser treatment of port-wine stains in children. Arch Dermatol 134:175–181. https://doi.org/10.1001/archderm.134.2.175

    Article  CAS  PubMed  Google Scholar 

  51. Sudarsanam A, Ardern-Holmes SL (2014) Sturge-Weber syndrome: from the past to the present. Eur J Paediatr Neurol 18:257–266. https://doi.org/10.1016/j.ejpn.2013.10.003

    Article  PubMed  Google Scholar 

  52. Elias AJ, Hand JL, Tollefson MM, Davis DMR (2021) The anatomic distribution of isolated and syndrome-associated port-wine stain. Pediatr Dermatol 38:77–82. https://doi.org/10.1111/pde.14392

    Article  PubMed  Google Scholar 

  53. Waelchli R, Aylett SE, Robinson K et al (2014) New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk. Br J Dermatol 171:861–867. https://doi.org/10.1111/bjd.13203

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  54. Barsky SH, Rosen S, Geer DE, Noe JM (1980) The nature and evolution of port wine stains: a computer-assisted study. J Invest Dermatol 74:154–157. https://doi.org/10.1111/1523-1747.ep12535052

    Article  CAS  PubMed  Google Scholar 

  55. Wilson BB, Brewer PC, Cooper PH (1995) Spontaneous improvement of a port wine stain. Cutis 56:93–95

    CAS  PubMed  Google Scholar 

  56. Barlow T, Egun A (2010) Spontaneous regression of a limb arterio-venous malformation (AVM) in a patient with Parkes-Weber syndrome (PWS). EJVES Extra 20:e14–e15. https://doi.org/10.1016/j.ejvsextra.2010.05.002

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Maternity and Infant Department, Unit of Dentistry and Maxillo-Facial Surgery, University of Verona, 37134, Verona, Italy

    Arrigo Pellacani & Mattia Di Bartolomeo

  2. The Vascular Birthmark Foundation, Latham, NY, USA

    Linda Rozell-Shannon & Giacomo Colletti

  3. Cranio-Maxillo-Facial Surgery Unit, University Hospital of Modena, 41124, Modena, Italy

    Sara Negrello

  4. Department of Medical and Surgical Sciences for Children & Adults, University of Modena and Reggio Emilia, Cranio-Maxillo-Facial Unit, 41124, Modena, Italy

    Alexandre Anesi, Luigi Chiarini & Giacomo Colletti

  5. Department of General and Specialist Surgeries, Anesthesia and Intensive Care Unit, University Hospital of Modena, 41124, Modena, Italy

    Raimondo Feminò

  6. Unit of Pediatric Hematology Oncology, University Hospital of Modena, 41124, Modena, Italy

    Ilaria Mariotti

Authors
  1. Arrigo Pellacani
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Linda Rozell-Shannon
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Sara Negrello
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Mattia Di Bartolomeo
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Alexandre Anesi
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Raimondo Feminò
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Ilaria Mariotti
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Luigi Chiarini
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Giacomo Colletti
    View author publications

    You can also search for this author in PubMed Google Scholar

Contributions

Conceptualization: A.P.; writing—original draft: A.P.; visualization: A.P., S.N., M.D.B., A.A.; resources: L.R-S.; data Curation: L.R-S.; writing—review and editing: S.N.; validation: A.A., L.C., G.C.; investigation: R.F., I.M.; supervision: L.C., G.C.

Corresponding author

Correspondence to Arrigo Pellacani.

Ethics declarations

Ethics approval

All procedures performed involving the human participant were in accordance with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. Due to the retrospective nature of this study, it was granted an exemption by the Institutional Review Board of the University Hospital of Modena, Italy.

Consent to publish

The authors affirm that parents or legal guardians consented to publication of this report and clinical photographs.

Conflict of interest

Arrigo Pellacani, Linda Rozell-Shannon, Sara Negrello, Mattia Di Bartolomeo, Alexandre Anesi, Raimondo Feminò, Ilaria Mariotti, Luigi Chiarini, and Giacomo Colletti declare no conflict of interest.

Additional information

Publisher's note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Pellacani, A., Rozell-Shannon, L., Negrello, S. et al. The vanishing port-wine stain birthmark—consideration for a rare type of congenital vascular anomaly. Eur J Plast Surg 45, 997–1013 (2022). https://doi.org/10.1007/s00238-022-01948-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00238-022-01948-z

Keywords

Search

Navigation