Capillary Malformation Clinical Presentation
- Author: Richard J Antaya, MD; Chief Editor: Dirk M Elston, MD more...
Nearly all cases of capillary malformation can be diagnosed by taking a careful history and performing a physical examination.
Capillary malformations are always present at birth, but they may not be apparent early in life because of neonatal anemia or plethora.
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 of the capillary malformation is commensurate with that of the child. Capillary malformations remain present for life. Capillary malformations show no tendency toward involution.
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.
Nodular vascular lesions may develop, usually in adulthood. Pyogenic granulomas (lobular capillary hemangiomas) with bleeding may develop in capillary malformations, even in childhood.
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.
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.
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.
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).
Although difficult to treat, glaucoma associated with periorbital capillary malformations can occur early in childhood; thus, early referral for high-risk patients is important.
Other types of vascular malformations (venous, lymphatic, arterial, or mixed) may be present.
Capillary malformation is a cutaneous finding of several syndromes.
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. It is caused by a somatic activating mutation in the GNAQ gene. 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.
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 (KTS) (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. Ultrasonographic measurement of the thigh arterial blood flow may be helpful in predicting future leg length discrepancies in patients with lower extremity capillary malformations.
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.
Diffuse capillary malformation with overgrowth
This is a recently proposed designation, which describes patients with an extensive, diffuse, reticulate capillary malformation and variable, but proportionate, hypertrophy without any major complications. A reticulate capillary malformation is defined as networklike, blotchy, nonuniform in color, and without distinct borders. This is in contradistinction to the darker "geographic" stains observed in KTS. These patients do not fit the diagnostic criteria of the other disorders marked by capillary malformations and overgrowth such as KTS or Parkes-Weber syndrome. Patients still require periodic evaluation to monitor for leg length discrepancy. They exhibit normal neurologic development and proportionate overgrowth rather than progressive, disproportionate asymmetry.
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 (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, 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, cardiac arrhythmias, lax joints, thickened and doughy-feeling subcutaneous tissue, syndactyly or polydactyly, and capillary malformation.[23, 24]
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome
CM-AVM syndrome is an autosomal dominant disorder caused by mutations in RASA1. Multifocal, small, round-to-oval, pinkish-to-red cutaneous capillary malformations are seen in over 90% of people with RASA1 mutations. At least some of these capillary malformations may actually be cutaneous AVMs. These cutaneous capillary malformations can accompany internal or cutaneous AVM or arteriovenous fistula (AVF). Intracerebral AVMs or AVFs have been reported in about 7% of patients with CM-AVM syndrome and can be associated cerebral vascular accidents.
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. 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.
Associated dermatologic anomalies
Phakomatosis pigmentovascularis refers to the presence of a capillary malformation with a melanocytic or other type of nevus. 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, as follows:
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.
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.
There is strong evidence associating postzygotic somatic activating mutations in the gene GNAQ to capillary malformations from both nonsyndromic capillary malformations and those associated with Sturge-Weber syndrome. This may account for some of the observed mosaic and twin-spotting phenotypes. Capillary malformations have also demonstrated a neural deficiency of sympathetic innervation of the superficial dermal blood vessels.
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