Vascular Tumors and Malformations

Description

• ■

  Infantile hemangiomas are benign red, purple, or blue vascular neoplasms occurring within the first year of life; they consist of proliferating endothelial-like cells.

• ■

  Terms such as strawberry hemangioma and cavernous hemangioma should be discarded because they have been used to describe both vascular growths and vascular malformations.

History

• ■

  Infantile hemangiomas are the most common vascular tumor of infancy, occurring in 4% to 5% of the population.

• ■

  Infantile hemangiomas may be classified as superficial, deep, mixed (superficial and deep), localized (focal), or segmental (involving one or more embryologic segment).

• ■

  Thirty percent of infantile hemangiomas are noticeable at birth, and most are detected within the first 3 weeks of life. Deeper lesions may be noted later, but usually within the first month of life.

• ■

  They occur with increased frequency in girls and premature infants and have a predilection for the head and neck.

Skin Findings

• ■

  Onset and rate of growth, as well as depth in the skin, determine when they become noticeable.

• ■

  Nascent infantile hemangiomas (early) may appear flat and pale-white with a few telangiectasias and large dilated blood vessels.

• ■

  During the growth phase, they are seen as bright-red (superficial) or blue (deep) and feel firm and rubbery. The surface color of deeper lesions can be very subtle.

• ■

  As infantile hemangiomas begin to involute, they become slate-gray and begin to soften.

• ■

  A small percentage of infantile hemangiomas ulcerate and bleed. Ulcerations are painful and can lead to infection.

• ■

  Infantile hemangiomas appear at any anatomic site, including the oral and genital mucosa.

• ■

  Most infants have a single lesion; 15% to 20% have multiple hemangiomas.

• ■

  Multiple cutaneous hemangiomas may be associated with visceral hemangiomas (diffuse neonatal hemangiomatosis); however, infants can have visceral involvement without cutaneous involvement.

Nonskin Findings

• ■

  Infantile hemangiomas near the eyes, ears, and mouth can threaten the function of those organs.

• ■

  Infantile hemangiomas located near or on the mandible (“beard” distribution) can be associated with glottic hemangiomas.

• ■

  Infantile hemangiomas that are located in the midline can be associated with underlying cranial or vertebral anomalies.

• ■

  Large segmental facial infantile hemangiomas can be associated with malformations of other organs (PHACES syndrome is a constellation of posterior fossa malformations, hemangioma, arterial anomalies, coarctation of the aorta and cardiac defects, eye anomalies, and sternal defects).

• ■

  Large perineal hemangiomas can be associated with underlying malformations in the genitourinary tract.

Laboratory and Pathology

• ■

  Skin biopsy is not usually required to make the diagnosis of infantile hemangiomas.

• ■

  Skin biopsy can be helpful for more difficult lesions.

• ■

  At a microscopic level, proliferating lesions show well-defined masses of plump endothelial cells and pericytes forming small lumens with red blood cells; regressing lesions show flattened endothelial cells in a connective tissue stroma.

• ■

  Infantile hemangiomas express glucose transporter-1, which is thought to be a specific marker for infantile hemangiomas.

• ■

  An imaging study (an ultrasound or magnetic resonance imaging) should be done in infants with midline lumbar and segmental facial hemangiomas because they can be associated with a tethered spinal cord and Dandy–Walker malformation, respectively. Magnetic resonance imaging of the pelvis should be obtained in patients with large perineal hemangiomas.

• ■

  Infants with multiple hemangiomas and physical signs of visceral involvement (hepatosplenomegaly, pallor, tachycardia) should have a complete blood count including platelets, abdominal ultrasound, and/or computed tomography scan.

Differential Diagnosis

• ■

  Vascular growths (pyogenic granuloma and cherry angioma)

• ■

  Rare tumors of infancy (fibrosarcoma, tufted angioma)

• ■

  Vascular malformations

• ■

  Certain types of congenital hemangiomas do not stain with glucose transporter-1

Course and Prognosis

• ■

  Infantile hemangiomas undergo proliferative, quiescent, and involutional phases.

• ■

  The most rapid growth of an infantile hemangioma is from 5.5 to 7.5 weeks of age.

• ■

  Eighty percent of infantile hemangiomas reach their maximal growth by 3 months of age.

• ■

  Most infantile hemangiomas end the proliferative phase by 9 months.

• ■

  Deep, mixed, and segmental hemangiomas may have a prolonged proliferative phase.

• ■

  Deep hemangiomas tend to have a delayed onset of growth and may proliferate for 1 month longer than superficial hemangiomas.

• ■

  Involution ends at a median age of 3 years.

• ■

  A lesion that does not show signs of regression by age 6 years is unlikely to resolve completely.

• ■

  Ulceration occurs in 15% to 25% of lesions and produces recurrent bleeding and pain.

• ■

  Superficial infection can occur but is rarely a serious problem.

• ■

  After involution, the overlying skin may appear normal, but in some instances there is some degree of atrophy or residual fibrosis.

Treatment

• ■

  Most hemangiomas of infancy should be followed closely to ensure that they are following a benign course and to reassure the parents (“active nonintervention”).

• ■

  Hemangiomas of infancy should be actively treated if they are life-threatening, or if they may compromise vital functions or have potential to create permanent disfigurement (nasal tip hemangiomas). Procedures that cause scarring should be avoided, when possible.

• ■

  For ulcerations, local measures should be used in combination to remove necrotic tissue, to keep the wound moist and prevent infection.

• ■

  The wound should be gently cleansed with mild soap and a soft cloth.

• ■

  A thin layer of a topical antibiotic, such as Mupirocin 2% ointment (Bactroban), metronidazole gel (MetroGel), or bacitracin ointment, should be applied.

• ■

  The wound should be covered with an air-permeable, barrier dressing, such as polyurethane film dressing, Tegaderm, and OpSite.

• ■

  Barrier creams, such as zinc oxide 20% ointment, Desitin ointment, and A&D ointment, can be used for the perineum and other sites not amenable to topical dressings.

• ■

  Pulsed-dye laser has been used successfully for ulcerations, but in a small percentage ulcerations may actually worsen.

• ■

  Propranolol 2 to 3 mg/kg/day may be used to treat complicated hemangiomas.

• ■

  Other medical therapies include oral, intralesional and topical corticosteroids and topical timolol.

• ■

  Embolization, surgical resection, and radiation are sometimes used for complicated hemangiomas.

When to Refer

• ■

  Treatment of complicated lesions should be done in consultation with specialists. Some centers have multidisciplinary clinics staffed by dermatologists, pediatric surgeons, oncologists, and radiologists who specialize in hemangioma management.

Pearls

• ■

  Photographic documentation is helpful to follow the course of infantile hemangiomas and is reassuring to parents.

• ■

  Early referral to a specialist is essential for all complicated infantile hemangiomas.

Description

• ■

  Vascular malformations are anomalies of blood and lymphatic vessels due to abnormal development and morphogenesis. Unlike hemangiomas, they exhibit normal endothelial cell turnover.

History

• ■

  By definition, cutaneous vascular malformations are present at birth, but they may not become noticeable for months, sometimes years.

• ■

  Vascular malformations are classified by vessel type (capillary, venous, arterial, lymphatic, mixed [common], and arteriovenous) and flow characteristics (slow flow and fast flow).

• ■

  Most vascular malformations grow in proportion to the patient.

• ■

  Most vascular malformations are sporadic and not inherited. Venous malformations can be inherited, such as multiple glomuvenous malformation and blue rubber bleb nevus syndrome (both are autosomal dominant).

Skin Findings

Venous Malformations (Slow Flow)

• ■

  Venous malformations usually are blue and spongy appearing; they tend to enlarge with Valsalva maneuver and can be painful.

• ■

  Phleboliths (small calcified nodules) commonly form and are felt as hard nodules.

Nonskin Findings

• ■

  Ten percent of infants with large facial capillary malformations, especially involving trigeminal nerve V1 (forehead and upper eyelid) are at risk for underlying eye and central nervous system involvement; this triad is known as the Sturge–Weber syndrome.

• ■

  Sturge−Weber syndrome is caused by an activating mutation in the GNAQ gene, which increases cell proliferation and inhibits apoptosis, through the RAS effector pathways.

• ■

  In Sturge–Weber syndrome, patients can develop glaucoma (30%–70%), seizures (70%–80%), and overgrowth of the underlying facial bones.

• ■

  Large cervicofacial lymphatic malformations can cause airway compromise.

• ■

  Arteriovenous malformations can cause cardiac failure due to shunting; head and neck arteriovenous malformations can cause seizures and focal neurologic deficits.

Laboratory and Pathology

• ■

  Neurologically normal infants with large facial capillary malformations involving the forehead should be referred for head magnetic resonance imaging.

• ■

  Skin biopsy can be helpful to evaluate lesions that are difficult to characterize and will show the architecture and cell type of the corresponding malformation.

Differential Diagnosis

• ■

  Transient macular staining

• ■

  Deep infantile hemangiomas

• ■

  Nevus anemicus

Course and Prognosis

• ■

  Capillary malformations can darken with age and develop a cobblestone appearance.

• ■

  Extensive venous and arterial malformations can involve deeper structures, such as muscle, and can be a source of local or disseminated coagulopathy.

• ■

  Vascular malformations may cause alterations in underlying bone and soft tissue, resulting in functional disability.

• ■

  Lymphatic malformations can be complicated by pain, swelling, intralesional bleeding, and infection.

Treatment

• ■

  Capillary malformations involving the forehead and lateral neck usually respond well to pulsed dye laser, whereas central facial, trigeminal nerve V2, and extremity lesions can be more difficult to treat.

• ■

  Coagulopathies associated with venous malformations have been treated with compression stockings, aspirin, low molecular weight heparin, hydrotherapy, massage, and physical therapy.

• ■

  Laser surgery, surgical resection, embolization, and sclerosis are used alone or in combination to treat complicated vascular malformations.

When to Refer

• ■

  Infants with large facial capillary malformations should be evaluated by a dermatologist, an ophthalmologist, and a neurologist.

• ■

  Treatment should be performed in a multidisciplinary setting by physicians experienced with vascular malformations.

Pediatric Considerations

• Early hemangiomas of infancy and vascular malformations appear similar at birth.

• Vascular malformations can become more pronounced at puberty.

Description

• ■

  Cherry angioma is a distinct, benign vascular neoplasm found in nearly all people older than 30 years of age.

History

• ■

  Lesions appear gradually in adulthood and are asymptomatic.

Skin Findings

• ■

  Lesions are discrete 0.5- to 5.0-mm, smooth, dome-shaped to polypoid papules.

• ■

  Early smaller lesions are cherry-red, and deeper larger lesions are maroon.

• ■

  They mostly occur on the trunk but can be found on the head, neck, and extremities.

• ■

  The number of lesions may range from a few to hundreds.

Nonskin Findings

• ■

  Multiple eruptive cherry angiomas have been associated with bromide exposure, sulfur mustard gas, and the glycol ether solvent 2-butoxyethanol.

• ■

  The sudden appearance of such lesions may warrant a search for occult malignancy, especially for small tumors capable of hormone production (those in the pancreas, small bowel, and respiratory system).

Laboratory and Pathology

• ■

  Skin biopsy is rarely needed but demonstrates a sharply defined, benign proliferation of dilated capillaries, and postcapillary venules within the papillary dermis.

• ■

  Larger lesions show flattening of the overlying epidermis and a collarette of epithelium at the periphery.

Differential Diagnosis

• ■

  Telangiectasia

• ■

  Melanoma

• ■

  Pyogenic granuloma

• ■

  Bacillary angiomatosis

Course and Prognosis

• ■

  Undisturbed cherry angiomas persist indefinitely.

• ■

  Superficial trauma may produce bleeding.

• ■

  Isolated reports of patients with hundreds of cherry angiomas arising in association with pregnancy, and also in patients with elevated prolactin levels, suggest that hormonal factors may play a role.

Treatment

• ■

  Cherry angiomas may be ablated by electrocautery, laser surgery, cryosurgery, or simple scissor excision.

• ■

  There is a slight risk for scarring and dyspigmentation with treatment.

Pearls

• ■

  The presence of numerous lesions should not prompt a search for malignancy, although the explosive appearance of such lesions should raise concern.