Capillary Malformation Clinical Presentation
- Author: Richard J Antaya, MD; Chief Editor: Dirk M Elston, MD more...
History
Nearly all cases of capillary malformation can be diagnosed by taking a careful history and performing a physical examination.
- Onset: Capillary malformations are always present at birth, but they may not be apparent early in life because of neonatal anemia or plethora.
- Location
- Of capillary malformations, most involve the head and the neck.
- Of facial capillary malformations, 45% are more or less restricted to 1 of the 3 areas supplied by the divisions of the fifth cranial nerve (CN).
- Of facial capillary malformations, 55% involve an area innervated by more than 1 division of the fifth CN, crossing the midline or occurring bilaterally.
- Growth
- Growth of the capillary malformation is commensurate with that of the child.
- Capillary malformations remain present for life.
- Capillary malformations show no tendency toward involution.
- Evolution
- Capillary malformations may change from pink in infancy to red in early adulthood to deep purple during middle age in some individuals.
- The surface may become thickened with a cobblestonelike contour. Approximately 65% of facial capillary malformations develop these changes during adulthood.[15]
- Nodular vascular lesions may develop, usually in adulthood.
- Pyogenic granulomas (lobular capillary hemangiomas) with bleeding may develop in capillary malformations, even in childhood.[12]
- Associations: Capillary malformation may coexist with other vascular malformations. Geographic (ie, well-circumscribed, sharply bordered) cutaneous lesions carry a much higher probability of associated lymphatic malformations than blotchy stains, especially in patients with Klippel-Trenaunay syndrome.[16]
Physical
Early in life, the lesions appear as flat (macular), mostly well-circumscribed patches. The color varies from pink to red to purple. The color of the capillary malformation does not correlate with the capillary depth or diameter. Blanching with external pressure is variable. In infancy and childhood, the color darkens with crying, fever, or overheating. Capillary malformations are usually unilateral with fairly sharp midline cutoffs. The face is the most frequently affected site, followed by the upper part of the trunk.
Later in life, as the vasculature dilates, the capillary malformation may evolve into a raised, thickened plaque. The capillary malformation becomes deep-red to purple. Lesions may become studded with vascular papules, imparting a cobblestonelike appearance. Vascular papules often form and may be prone to bleeding. Skin and underlying soft tissue or bony hypertrophy may be present. Lobulated capillary hemangiomas (pyogenic granulomas) may form, especially with intraoral lesions.
Associated findings
Ocular and/or CNS involvement occurs in 9.5% of patients with facial capillary malformations. Involvement of V1 distribution seems to be a requirement. The highest incidence appears to be in patients in whom the capillary malformation involves the entire cutaneous distribution of V1, with 78% developing eye or CNS complications.[17]
Glaucoma occurs in approximately 10% of patients with facial capillary malformations, and no leptomeningeal involvement is present. Glaucoma affects 27-45% of patients when capillary malformations involve the skin supplied by both the ophthalmic (CN V1) and the maxillary (CN V2) divisions of the fifth CN, the trigeminal nerve. Glaucoma is less frequent when the face is involved in only 1 of these upper divisions of the trigeminal nerve or if it is affected solely below the eye; however, the prevalence is increased with eyelid involvement. The prevalence may not be correlated with increased vascularity of the choroid or the bulbar conjunctiva. Glaucoma may be due to increased episcleral venous pressure with resultant elevated intraocular pressure, and it can occur without leptomeningeal involvement (eg, in the absence of Sturge-Weber syndrome).
Other types of vascular malformations (venous, lymphatic, arterial, or mixed) may be present.
Associated syndromes
Capillary malformation is a cutaneous finding of several syndromes.
Sturge-Weber syndrome
Sturge-Weber syndrome (encephalofacial or encephalotrigeminal angiomatosis) is characterized by the triad of capillary malformations involving the upper facial dermis, the ipsilateral leptomeninges, and the ipsilateral cerebral cortex. Some authorities believe that only 2 features are necessary to make this diagnosis. The facial skin supplied by the ophthalmic branch (CN V1) of the trigeminal nerve must be involved with the capillary malformation for a patient to meet one of the criteria for Sturge-Weber syndrome.
Sturge-Weber syndrome occurs in less than 10% of patients with capillary malformations on the upper eyelid or the forehead. Involvement of areas on the face supplied by only CN V2 or CN V3 does not carry an increased risk for Sturge-Weber syndrome.
No relationship is apparent between the size of the facial capillary malformation and the severity of CNS involvement, and a small percentage of Sturge-Weber syndrome patients lack any cutaneous involvement.[18]
Typically, capillary malformations associated with Sturge-Weber syndrome are more extensive than isolated capillary malformations, and patients often have bilateral facial involvement. Complications include glaucoma, seizures, hemiplegia, mental retardation, cerebral calcifications, subdural hemorrhage, and an increased prevalence of underlying soft tissue hypertrophy. Large variability exists in the severity of associated symptoms.
Klippel-Trenaunay syndrome
Klippel-Trenaunay syndrome (angio-osteohypertrophy syndrome) manifests as a triad of capillary malformation, congenital varicose veins, and hypertrophy of underlying tissues, particularly skeletal overgrowth. The sex distribution is equal. The lower limbs are involved in 95% of patients, and involvement is unilateral in 85%. Most patients are asymptomatic at birth, but many experience problems later in childhood. Complications include varicose veins with venous thrombosis and pulmonary embolism; bleeding from varices, the rectum, or the bladder; skin ulceration; increased sweating overlying the capillary malformation; leg circumference or length discrepancy with resultant scoliosis; edema; and recurrent infections.[19] Ultrasonographic measurement of the thigh arterial blood flow may be helpful in predicting future leg length discrepancies in patients with lower extremity capillary malformations.[20]
Parkes-Weber syndrome
With Parkes-Weber syndrome, the diagnostic criteria include an AVM in addition to those listed above for Klippel-Trenaunay syndrome. AVFs are usually diffuse and difficult to ablate. Almost all patients present in childhood with an enlarged, warm extremity. The prognosis is worse than that associated with Klippel-Trenaunay syndrome. A positive bradycardic reaction (Nicoladoni-Branham sign) portends a poorer prognosis. This test is performed by occluding the arterial inflow by compression with a blood pressure cuff. In a limb with a hemodynamically significant AVM, this maneuver leads to reflex bradycardia secondary to a sharp rise in blood pressure. Complications include ulceration and severe lymphedema.
Cobb syndrome
In Cobb syndrome (cutaneomeningospinal angiomatosis), a cutaneous vascular lesion in the skin overlying the spine, is associated with vascular malformations (venous or arteriovenous) in the subjacent spinal meninges. Possible complications result from neurologic damage caused by mass effect on the spinal cord or nerves, bone erosion, and subarachnoid hemorrhage.
Wyburn-Mason syndrome
Wyburn-Mason syndrome (unilateral retinocephalic syndrome), also known as Bonnet-Dechaume-Blanc syndrome, manifests as facial capillary malformations associated with unilateral AVM of the retina and the intracranial optic pathway. Physical findings include monocular amblyopia, mild proptosis, and dilatation of conjunctival vessels. Capillary malformations may occur anywhere on the ipsilateral face (not just the eyelids or periorbitally), and they may have associated facial hypertrophy or occasional involvement of the optic chiasm, the hypothalamus, the midbrain, and the basal ganglia, with associated mental retardation or neurologic signs and symptoms.
Macrocephaly-capillary malformation
Macrocephaly-capillary malformation, previously named macrocephaly-cutis marmorata telangiectatica congenita, is a multisystemic disorder characterized by prenatal overgrowth, somatic and cerebral asymmetry, megalencephaly, characteristic facial features, abnormal mentation, lax joints, thickened and doughy-feeling subcutaneous tissue, syndactyly or polydactyly, and capillary malformation.[21]
Nevus vascularis mixtus
Nevus vascularis mixtus is the name given when a capillary malformation is paired with nevus anemicus, an example of didymosis or twin spotting.
Associated skeletal or neurologic anomalies
Capillary malformation overlying the lumbar spine may be a marker for an underlying primary skeletal or neurologic anomaly, such as spinal dysraphism, tethered spinal cord, lipomeningocele, or diastematomyelia. The prevalence of underlying defects is increased when multiple abnormalities are present in the lumbar skin. Skin markers include acrochordons (skin tags), an abnormal tuft of hair (fawn's tail), lipomas, an irregular (usually deviated) gluteal cleft, or a dermal sinus tract or sacral dimple that is large or superior to the gluteal fold.
Guggisberg et al found that none of 16 patients with an isolated capillary malformation showed occult spinal dysraphism, whereas 7 of 10 patients with capillary malformations in combination with other lumbar congenital anomalies did have an occult spinal dysraphism.[22] Conversely, Tubbs et al found that 21 (17.5%) of 120 patients with an isolated capillary malformation harbored an occult spinal dysraphism, and they recommended MRI for all patients who present with an isolated lumbar capillary malformation.[23]
Associated dermatologic anomalies
Phakomatosis pigmentovascularis
Phakomatosis pigmentovascularis refers to the presence of a capillary malformation with a melanocytic or other type of nevus. This phenotype is another example of twin spotting, with the pathogenesis hypothesized to include developmental abnormalities, perhaps paired mutations of varied neural crest–derived elements, such as vasomotor nerves and melanocytes. The histopathologic findings of a capillary malformation in phakomatosis pigmentovascularis are the same as those for isolated capillary malformations.
Four types of phakomatosis pigmentovascularis are described.
- Type I is composed of capillary malformation and nevus pigmentosus et verrucosus or epidermal nevus.
- Type II is a capillary malformation and dermal melanocytosis with or without nevus anemicus; this is the most common type. It also includes nevus of Ota (oculocutaneous melanosis) and can be associated with Sturge-Weber syndrome and Klippel-Trenaunay syndrome.
- Type III is a capillary malformation and nevus spilus with or without nevus anemicus.
- Type IV is a capillary malformation, nevus spilus, and dermal melanocytosis with or without nevus anemicus.
Subdivisions of each type include subtype a for cutaneous involvement only and subtype b for cutaneous and systemic involvement. No systemic involvement is reported for type I.
In 2005, another classification scheme for phakomatosis pigmentovascularis has been proposed by Happle. This includes 3 different distinct categories based on the type of associated lesion: phacomatosis cesioflammea (capillary malformation with bluish gray spots as observed with various lesions of dermal melanocytosis), phacomatosis spilorosea (pale pink telangiectatic capillary malformation associated with a nevus spilus), and phacomatosis cesiomarmorata (cutis marmorata telangiectatica congenita with blue spots). A final category includes others that cannot be included in one of the other 3 variants.[24]
Angiolipomas
Asymptomatic, noninfiltrating angiolipomas may be present underlying a Capillary malformation in a small minority of patients. These are mostly found on the trunk and pelvic girdle skin and may be associated with laser-resistant capillary malformations.[25]
Causes
The exact mechanism remains unknown. Evidence for genetic influence is lacking. Postzygotic somatic mutations may account for the mosaic and twin-spotting phenotypes.[26] Capillary malformations may result from a neural deficiency of sympathetic innervation of the superficial dermal blood vessels.[2]
Happle R. What is a capillary malformation?. J Am Acad Dermatol. Dec 2008;59(6):1077-9. [Medline].
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].
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].
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].
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].
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].
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].
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].
Motley RJ, Lanigan SW, Katugampola GA. Videomicroscopy predicts outcome in treatment of port-wine stains. Arch Dermatol. Jul 1997;133(7):921-2. [Medline].
Lanigan SW, Cotterill JA. Psychological disabilities amongst patients with port wine stains. Br J Dermatol. Aug 1989;121(2):209-15. [Medline].
Sheehan DJ, Lesher JL Jr. Pyogenic granuloma arising within a port-wine stain. Cutis. Mar 2004;73(3):175-80. [Medline].
da Silva AD, Silva CA, de Camargo Moraes P, Thomaz LA, Furuse C, de Araújo VC. Recurrent oral pyogenic granuloma in port-wine stain. J Craniofac Surg. Nov 2011;22(6):2356-8. [Medline].
Pratt AG. Birthmarks in infants. AMA Arch Derm Syphilol. Mar 1953;67(3):302-5. [Medline].
Afsar FS, Ortac R. Acquired port-wine stain in a pediatric patient. J Cutan Med Surg. May-Jun 2006;10(3):151-3. [Medline].
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].
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].
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].
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].
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].
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].
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].
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].
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].
Happle R. Phacomatosis pigmentovascularis revisited and reclassified. Arch Dermatol. Mar 2005;141(3):385-8. [Medline].
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].
Happle R. Loss of heterozygosity in human skin. J Am Acad Dermatol. Aug 1999;41(2 Pt 1):143-64. [Medline].
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].
Faurschou A, Olesen AB, Leonardi-Bee J, Haedersdal M. Lasers or light sources for treating port-wine stains. Cochrane Database Syst Rev. Nov 9 2011;11:CD007152. [Medline].
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].
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].
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].
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].
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].
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].
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].
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].
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].
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].
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].
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].
[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].
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].
Boukobza M, Enjolras O, Cambra M, Merland J. [Sturge-Weber syndrome. The current neuroradiologic data]. J Radiol. Jul 2000;81(7):765-71. [Medline].
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].
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].
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].
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].
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.
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].
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].
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].
Mulliken JB. Capillary (port-wine) and other telangiectatic stains. In: Vascular Birthmarks. Portland, Ore: Book News; 1988:170-83.
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].
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].
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].
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.
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.
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