eMedicine Specialties > Dermatology > Diseases of the Vessels

Capillary Malformation: Differential Diagnoses & Workup

Author: Richard J Antaya, MD, Director of Pediatric Dermatology, Associate Professor, Departments of Dermatology and Pediatrics, Yale University
Contributor Information and Disclosures

Updated: Sep 25, 2009

Differential Diagnoses

Cobb Syndrome
Infantile Hemangioma
Klippel-Trenaunay-Weber Syndrome
Proteus Syndrome
Rubinstein-Taybi Syndrome

Other Problems to Be Considered

  • Early infantile hemangiomas: Consider a diagnosis of infantile hemangiomas before the onset of rapid proliferation. Infantile hemangiomas are easily differentiated from capillary malformations by the observation of rapid growth in the hemangiomas.
  • Abortive (telangiectatic) infantile hemangiomas: These usually are flat, pink patches with obvious telangiectases running throughout the lesion. These involute slowly over time, albeit slower than typical infantile hemangiomas.
  • Nevus flammeus neonatorum: Synonyms include salmon patch, stork bite, angel kiss, nevus simplex, nevus flammeus nuchae, medial or midline telangiectatic nevus, medial nevus flammeus, and physiologic capillary malformation. They occur on the midline glabella, the nose, the upper lip, the occipital scalp, or the eyelids. They are usually lighter pink than capillary malformations, with rates of 42% in white neonates and 31% in black neonates. In most cases, the anterior facial lesions lighten or resolve by the time the patient is aged 1-2 years; however, the occipital and lumbar lesions may persist throughout life.
  • Beckwith-Wiedemann syndrome
  • Coats disease: Retinal telangiectasia (usually unilateral) is rarely reported with an ipsilateral facial capillary malformation.
  • Cobb syndrome: See Physical.
  • Parkes-Weber syndrome: See Physical.
  • Phacomatosis pigmentovascularis
  • Roberts syndrome: This is characterized by facial capillary malformation, hypomelia, hypotrichosis, cleft lip, and growth retardation.
  • TAR syndrome: This is characterized by congenital thrombocytopenia, bilateral absence or hypoplasia of the radius, and capillary malformations.
  • Sturge-Weber syndrome: See Physical.
  • von Hippel-Lindau disease
  • Wyburn-Mason syndrome: See Physical.

Workup

Imaging Studies

  • Imaging studies should be performed if Sturge-Weber syndrome is suspected. MRI with gadolinium enhancement is the optimal diagnostic imaging technique for the screening of Sturge-Weber syndrome.
    • CT scan or MRI findings may be absent during the first few years, unless intravenous contrast is administered. However, even if intravenous contrast is used, some milder lesions may still not be detected. Positive findings include gyral enhancement, enlargement and enhancement of the ipsilateral choroid plexus, progressive cortical atrophy, and gyral calcification. Accelerated myelination in the involved hemisphere also may be an early diagnostic feature before age 6 months in some infants.
    • Cerebral angiography can detect parenchymal contrast stasis and abnormal cortical veins.
  • Debate continues regarding the need for and type of diagnostic imaging for patients who present with an isolated capillary malformation. Some authorities believe that in low-risk lesions such as an isolated capillary malformation, either no imaging or ultrasonography (age <5 mo) is reasonable. Imaging studies should be performed in all patients who have a capillary malformation and another lumbosacral cutaneous anomaly, because the risk is much higher. Some authors recommend MRI for all children who present with an isolated lumbar capillary malformation.

Other Tests

  • An ophthalmologic evaluation with tonometry to exclude glaucoma in infants with CN V1 and CN V2 or eyelid involvement should be performed semiannually for the first 3 years of life and annually thereafter.

Histologic Findings

Histologically, the abnormal features are difficult to appreciate in tissue samples obtained from children younger than 10 years. With time, the affected vessels become progressively more ectatic and filled with erythrocytes. The ectasia appears to progress from the superficial dermis to the deeper dermis and subcutaneous tissues. The endothelial cells of a capillary malformation do not stain for GLUT-1, a specific marker for infantile hemangiomas.

Histopathologic features of a capillary malformat...

Histopathologic features of a capillary malformation (nevus flammeus) showing telangiectatic vessels lined by mature-appearing endothelial cells.

[ CLOSE WINDOW ]
Histopathologic features of a capillary malformat...

Histopathologic features of a capillary malformation (nevus flammeus) showing telangiectatic vessels lined by mature-appearing endothelial cells.


More on Capillary Malformation

Overview: Capillary Malformation
Differential Diagnoses & Workup: Capillary Malformation
Treatment & Medication: Capillary Malformation
Follow-up: Capillary Malformation
Multimedia: Capillary Malformation
References
[ CLOSE WINDOW ]

References

  1. Happle R. What is a capillary malformation?. J Am Acad Dermatol. Dec 2008;59(6):1077-9. [Medline].

  2. Smoller BR, Rosen S. Port-wine stains. A disease of altered neural modulation of blood vessels?. Arch Dermatol. Feb 1986;122(2):177-9. [Medline].

  3. Chang CJ, Yu JS, Nelson JS. Confocal microscopy study of neurovascular distribution in facial port wine stains (capillary malformation). J Formos Med Assoc. Jul 2008;107(7):559-66. [Medline].

  4. Vural E, Ramakrishnan J, Cetin N, Buckmiller L, Suen JY, Fan CY. The expression of vascular endothelial growth factor and its receptors in port-wine stains. Otolaryngol Head Neck Surg. Oct 2008;139(4):560-4. [Medline].

  5. Kaji N, Nagase T, Nagase M, Koshima I. Changes in angiogenic gene expression in a case of expanded capillary malformation: does an expanded capillary malformation grow?. Ann Plast Surg. Jun 2005;54(6):645-50. [Medline].

  6. Boon LM, Mulliken JB, Vikkula M. RASA1: variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev. Jun 2005;15(3):265-9. [Medline].

  7. Hershkovitz D, Bergman R, Sprecher E. A novel mutation in RASA1 causes capillary malformation and limb enlargement. Arch Dermatol Res. Aug 2008;300(7):385-8. [Medline].

  8. Hershkovitz D, Bercovich D, Sprecher E, Lapidot M. RASA1 mutations may cause hereditary capillary malformations without arteriovenous malformations. Br J Dermatol. May 2008;158(5):1035-40. [Medline].

  9. Motley RJ, Lanigan SW, Katugampola GA. Videomicroscopy predicts outcome in treatment of port-wine stains. Arch Dermatol. Jul 1997;133(7):921-2. [Medline].

  10. Lanigan SW, Cotterill JA. Psychological disabilities amongst patients with port wine stains. Br J Dermatol. Aug 1989;121(2):209-15. [Medline].

  11. Sheehan DJ, Lesher JL Jr. Pyogenic granuloma arising within a port-wine stain. Cutis. Mar 2004;73(3):175-80. [Medline].

  12. Pratt AG. Birthmarks in infants. AMA Arch Derm Syphilol. Mar 1953;67(3):302-5. [Medline].

  13. Afsar FS, Ortac R. Acquired port-wine stain in a pediatric patient. J Cutan Med Surg. May-Jun 2006;10(3):151-3. [Medline].

  14. Geronemus RG, Ashinoff R. The medical necessity of evaluation and treatment of port-wine stains. J Dermatol Surg Oncol. Jan 1991;17(1):76-9. [Medline].

  15. Maari C, Frieden IJ. Klippel-Trénaunay syndrome: the importance of "geographic stains" in identifying lymphatic disease and risk of complications. J Am Acad Dermatol. Sep 2004;51(3):391-8. [Medline].

  16. Ch'ng S, Tan ST. Facial port-wine stains - clinical stratification and risks of neuro-ocular involvement. J Plast Reconstr Aesthet Surg. Aug 2008;61(8):889-93. [Medline].

  17. Pascual-Castroviejo I, Pascual-Pascual SI, Velazquez-Fragua R, Viano J. Sturge-Weber syndrome: study of 55 patients. Can J Neurol Sci. Jul 2008;35(3):301-7. [Medline].

  18. Huiras EE, Barnes CJ, Eichenfield LF, Pelech AN, Drolet BA. Pulmonary thromboembolism associated with Klippel-Trenaunay syndrome. Pediatrics. Oct 2005;116(4):e596-600. [Medline].

  19. Samimi M, Maruani A, Bertrand P, Arbeille P, Lorette G. Arterial blood flow in limbs with port-wine stains can predict length discrepancy. Br J Dermatol. Jan 2009;160(1):219-20. [Medline].

  20. Toriello HV, Mulliken JB. Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary malformation (M-CM). Am J Med Genet A. Dec 15 2007;143A(24):3009. [Medline].

  21. Guggisberg D, Hadj-Rabia S, Viney C, et al. Skin markers of occult spinal dysraphism in children: a review of 54 cases. Arch Dermatol. Sep 2004;140(9):1109-15. [Medline].

  22. Tubbs RS, Wellons JC 3rd, Iskandar BJ, Oakes WJ. Isolated flat capillary midline lumbosacral hemangiomas as indicators of occult spinal dysraphism. J Neurosurg. Feb 2004;100(2 Suppl Pediatrics):86-9. [Medline].

  23. Happle R. Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol. Mar 2005;141(3):385-8. [Medline].

  24. Lapidoth M, Ben Amitai D, Feinmesser M, Akerman L. Capillary malformation associated with angiolipoma: analysis of 127 consecutive clinic patients. Am J Clin Dermatol. 2008;9(6):389-92. [Medline].

  25. Happle R. Loss of heterozygosity in human skin. J Am Acad Dermatol. Aug 1999;41(2 Pt 1):143-64. [Medline].

  26. Kouba DJ, Yip D, Fincher EF, Moy RL. Topical imiquimod in the treatment of a long-standing capillary malformation. Br J Dermatol. Nov 2007;157(5):1071-2. [Medline].

  27. Kono T, Groff WF, Sakurai H. Treatment of port wine stains with the pulse dye laser. Ann Plast Surg. Apr 2006;56(4):460-3. [Medline].

  28. Sivarajan V, MacKay IR. The relationship between location, color, and vessel structure within capillary vascular malformations. Ann Plast Surg. Oct 2004;53(4):378-81. [Medline].

  29. Jia W, Aguilar G, Verkruysse W, Franco W, Nelson JS. Improvement of port wine stain laser therapy by skin preheating prior to cryogen spray cooling: a numerical simulation. Lasers Surg Med. Feb 2006;38(2):155-62. [Medline].

  30. Phung TL, Oble DA, Jia W, Benjamin LE, Mihm MC Jr, Nelson JS. Can the wound healing response of human skin be modulated after laser treatment and the effects of exposure extended? Implications on the combined use of the pulsed dye laser and a topical angiogenesis inhibitor for treatment of port wine stain birthmarks. Lasers Surg Med. Jan 2008;40(1):1-5. [Medline].

  31. Chang CJ, Hsiao YC, Mihm MC Jr, Nelson JS. Pilot study examining the combined use of pulsed dye laser and topical Imiquimod versus laser alone for treatment of port wine stain birthmarks. Lasers Surg Med. Nov 2008;40(9):605-10. [Medline].

  32. Gu Y, Huang NY, Liang J, Pan YM, Liu FG. [Clinical study of 1949 cases of port wine stains treated with vascular photodynamic therapy (Gu's PDT)]. Ann Dermatol Venereol. Mar 2007;134(3 Pt 1):241-4. [Medline].

  33. Huikeshoven M, Koster PH, de Borgie CA, Beek JF, van Gemert MJ, van der Horst CM. Redarkening of port-wine stains 10 years after pulsed-dye-laser treatment. N Engl J Med. Mar 22 2007;356(12):1235-40. [Medline].

  34. Ozdemir M, Engin B, Mevlitoglu I. Treatment of facial port-wine stains with intense pulsed light: a prospective study. J Cosmet Dermatol. Jun 2008;7(2):127-31. [Medline].

  35. Yang MU, Yaroslavsky AN, Farinelli WA, et al. Long-pulsed neodymium:yttrium-aluminum-garnet laser treatment for port-wine stains. J Am Acad Dermatol. Mar 2005;52(3 Pt 1):480-90. [Medline].

  36. Pence B, Aybey B, Ergenekon G. Outcomes of 532 nm frequency-doubled Nd:YAG laser use in the treatment of port-wine stains. Dermatol Surg. May 2005;31(5):509-17. [Medline].

  37. Huang YC, Ringold TL, Nelson JS, Choi B. Noninvasive blood flow imaging for real-time feedback during laser therapy of port wine stain birthmarks. Lasers Surg Med. Mar 2008;40(3):167-73. [Medline].

  38. Kolkman RG, Mulder MJ, Glade CP, Steenbergen W, van Leeuwen TG. Photoacoustic imaging of port-wine stains. Lasers Surg Med. Mar 2008;40(3):178-82. [Medline].

  39. [Guideline] Shevell M, Ashwal S, Donley D, et al. Practice parameter: evaluation of the child with global developmental delay: report of the Quality Standards Subcommittee of the American Academy of Neurology and The Practice Committee of the Child Neurology Society. Neurology. Feb 11 2003;60(3):367-80. [Medline].

  40. Fonder MA, Mamelak AJ, Kazin RA, Cohen BA. Port-wine-stain-associated dermatitis: implications for cutaneous vascular laser therapy. Pediatr Dermatol. Jul-Aug 2007;24(4):376-9. [Medline].

  41. Boukobza M, Enjolras O, Cambra M, Merland J. [Sturge-Weber syndrome. The current neuroradiologic data]. J Radiol. Jul 2000;81(7):765-71. [Medline].

  42. Burrows PE, Laor T, Paltiel H, Robertson RL. Diagnostic imaging in the evaluation of vascular birthmarks. Dermatol Clin. Jul 1998;16(3):455-88. [Medline].

  43. Eerola I, Boon LM, Mulliken JB, et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet. Dec 2003;73(6):1240-9. [Medline].

  44. Eubanks LE, McBurney EI. Videomicroscopy of port-wine stains: correlation of location and depth of lesion. J Am Acad Dermatol. Jun 2001;44(6):948-51. [Medline].

  45. Garzon MC, Huang JT, Enjolras O, Frieden IJ. Vascular malformations: Part I. J Am Acad Dermatol. Mar 2007;56(3):353-70; quiz 371-4. [Medline].

  46. Goldman MP, Fitzpatrick RE. Laser treatment of cutaneous vascular lesions. In: Goldman MP, Fitzpatrick RE, eds. Cutaneous Laser Surgery: The Art and Science of Selective Photothermolysis. 2nd ed. Mosby-Year Book: St. Louis, Mo; 1999:37-74.

  47. Goldman MP, Fitzpatrick RE, Ruiz-Esparza J. Treatment of port-wine stains (capillary malformation) with the flashlamp-pumped pulsed dye laser. J Pediatr. Jan 1993;122(1):71-7. [Medline].

  48. Huikeshoven M, Koster PH, de Borgie CA, Beek JF, van Gemert MJ, van der Horst CM. Redarkening of port-wine stains 10 years after pulsed-dye-laser treatment. N Engl J Med. Mar 22 2007;356(12):1235-40. [Medline].

  49. Mazereeuw-Hautier J, Syed S, Harper JI. Bilateral facial capillary malformation associated with eye and brain abnormalities. Arch Dermatol. Aug 2006;142(8):994-8. [Medline].

  50. Mulliken JB. Capillary (port-wine) and other telangiectatic stains. In: Vascular Birthmarks. Portland, Ore: Book News; 1988:170-83.

  51. Requena L, Sangueza OP. Cutaneous vascular anomalies. Part I. Hamartomas, malformations, and dilation of preexisting vessels. J Am Acad Dermatol. Oct 1997;37(4):523-49; quiz 549-52. [Medline].

  52. Selim MM, Kelly KM, Nelson JS, Wendelschafer-Crabb G, Kennedy WR, Zelickson BD. Confocal microscopy study of nerves and blood vessels in untreated and treated port wine stains: preliminary observations. Dermatol Surg. Jun 2004;30(6):892-7. [Medline].

  53. Sivarajan V, Maclaren WM, Mackay IR. The effect of varying pulse duration, wavelength, spot size, and fluence on the response of previously treated capillary vascular malformations to pulsed-dye laser treatment. Ann Plast Surg. Jul 2006;57(1):25-32. [Medline].

  54. Waner M, Suen JY. The treatment of vascular malformations. In: Hemangiomas and Vascular Malformations of the Head and Neck. New York, NY: John Wiley & Sons; 1999:353-66.

  55. Waner M, Suen JY. The natural history of vascular malformations. In: Hemangiomas and Vascular Malformations of the Head and Neck. New York, NY: John Wiley & Sons; 1999:52-62.

[ CLOSE WINDOW ]

Further Reading

[ CLOSE WINDOW ]

Keywords

capillary malformation, nevus flammeus, naeuvus flammeus, NF, port-wine stain, port-wine mark, portwine stain, port wine stain, strawberry patch, naevus maternus, venular malformation, venulocapillary malformation, vascular malformation (not capillary hemangioma), birthmark, birth mark

[ CLOSE WINDOW ]

Contributor Information and Disclosures

Author

Richard J Antaya, MD, Director of Pediatric Dermatology, Associate Professor, Departments of Dermatology and Pediatrics, Yale University
Richard J Antaya, MD is a member of the following medical societies: American Academy of Dermatology, American Academy of Pediatrics, and Society for Pediatric Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Mark W Cobb, MD, Consulting Staff, WNC Dermatological Associates
Mark W Cobb, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and American Society of Dermatopathology
Disclosure: Nothing to disclose.

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
HONcode

We subscribe to the
HONcode principles of the
Health On the Net Foundation

All material on this website is protected by copyright, Copyright© 1994- by Medscape.
This website also contains material copyrighted by 3rd parties.

DISCLAIMER: The content of this Website is not influenced by sponsors. The site is designed primarily for use by qualified physicians and other medical professionals. The information contained herein should NOT be used as a substitute for the advice of an appropriately qualified and licensed physician or other health care provider. The information provided here is for educational and informational purposes only. In no way should it be considered as offering medical advice. Please check with a physician if you suspect you are ill.