Section 19. Vascular

A 31-year-old woman presented with a new swelling on her lower lip. This was clinically recognized as a venous lake (Figure 201-1). The patient was bothered by its appearance and wanted it removed. She chose to have cryotherapy, which eradicated the venous lake. A closed-probe was used on a Cryogun for lesion compression while the freeze was applied using liquid nitrogen.

Acquired vascular lesions are common skin findings. They appear “vascular,” or filled with blood. Acquired vascular lesions differ from congenital or hereditary vascular lesions in that they manifest months to years after birth.

• Venous lakes are acquired vascular lesions of the face and ears.1
• Cherry angiomas are common vascular malformations that occur in many adults after the age of 30 years (Figure 201-2). Cherry angiomas sometimes proliferate during pregnancy.1
• Angiokeratomas, the most common form being angiokeratomas of the scrotum (Fordyce) or vulva, develop during adult years (Figures 201-3 and 201-4).1
• Glomangiomas, also known as glomuvenous malformations or glomus tumors, are a type of rare venous malformation (Figure 201-5). Most patients with glomangiomas are of Northern European descent and have a family history of similar lesions.2
• Cutaneous angiosarcomas are malignant vascular tumors most commonly found on the head and neck areas of elderly white men. These are rare but deadly (Figure 201-6).3

• Venous lakes are benign dilated vascular channels (Figure 201-1).
• Cherry angiomas are common benign vascular malformations (see Figure 201-2). They may increase during pregnancy. Several case reports have cited increased cherry angiomas after exposure to toxins.4
• Angiokeratomas are dilated superficial blood vessels that may be associated with increased venous pressure (such as in pregnant patients and patients with hemorrhoids)1 (Figures 201-3 and 201-4).
• Glomangiomas are a distinct type of venous malformation caused by abnormal synthesis of the protein glomulin2 (Figure 201-5). Lesions may be acquired or congenital.
• Cutaneous angiosarcomas are rare malignant vascular tumors thought to arise from vascular endothelium. Most arise spontaneously, but risk factors include radiation, chronic lymphedema, toxins, and certain familial syndromes. Elevation of several growth factors and cytokines has been associated with this malignancy (Figures 201-6 and 201-7).3

Clinical Features

• Venous lakes are dark blue, slightly raised, and less than a centimeter in size. The lesions empty with firm compression. They may bleed with trauma.
• Cherry angiomas are deep red papules with a distinct cherry color.
• Angiokeratomas are multiple red-to-purple papules with associated hyperkeratosis. They may bleed easily with trauma.
• Glomangiomas are typically tender, blue-purple, partially compressible nodules with a cobblestone appearance.
• Cutaneous angiosarcomas present as progressively enlarging erythematous plaques.

Typical Distribution

• Venous lakes are found on the face and ears, particularly the vermilion border of the lips (Figure 201-1).
• Cherry angiomas favor the trunk but may occur on other parts of the body. Number of lesions ranges from several to hundreds.
• Angiokeratomas typically occur on the scrotum or vulva (Figures 201-3 and 201-4).
• Glomangiomas tend to occur on the extremities (Figure 201-5). Solitary glomangiomas often occur in the nail bed, especially in women. The number of lesions ranges from solitary to more than 100.5
• Cutaneous angiosarcomas often present on the head and neck areas (Figures 201-6 and 201-7).

Laboratory Studies and Biopsy

• Diagnosis of venous lakes, cherry angiomas, and angiokeratomas is usually by history and physical examination alone. If these are removed surgically, it is still best to send them to pathology for confirmation of diagnosis. If the diagnosis is not clear clinically, a biopsy is warranted to rule out malignancy.
• Diascopy is a technique in which a microscope slide is used to compress a vascular lesion, allowing the clinician the ability to see the red or purple color of a vascular lesion blanch under pressure (Figure 201-8).
• Skin biopsy of glomangioma reveals distinct rows of glomus cells that surround distorted vascular channels.2
• Skin biopsy of cutaneous angiosarcoma reveals irregular vascular channels and atypical endothelial cells.3

• Melanoma lesions are irregularly shaped, usually pigmented lesions identified by the ABCDE guidelines discussed in Chapter 172, Melanoma. Unlike venous lakes, they do not change consistency with firm compression.
• Angiokeratomas typically occur on the scrotum or vulva and have a distinct appearance. They may bleed easily with trauma.
• Glomangiomas have a cobblestone appearance and are tender. Unlike venous lakes, these anomalies do not empty with compression.
• Cutaneous angiosarcomas present as progressively enlarging erythematous plaques that may resemble bruising, cellulitis, rosacea, or erysipelas. The head-tilt maneuver has been described to aid in its detection.5 Having a patient lower his or her head below the level of the heart for 5 to 10 seconds will make the lesion more engorged and violaceous, thus confirming its vascular nature.

Observation

• Patients can be reassured that venous lakes and most other acquired vascular lesions (with the exception of angiosarcomas) are benign lesions that develop during adult years.

Surgical

• Venous lakes, cherry angiomas, and other acquired vascular lesions can be eradicated by cryotherapy, electrodesiccation, sclerotherapy, intralesional bleomycin, intense pulsed light, and other laser modalities.1,6-10 SOR C Compared with intense pulsed light, the Nd:YAG (neodymium:yttrium-aluminum-garnet) laser system may yield superior results in the treatment of benign vascular lesions.11 SOR B Hyperpigmentation is the most common complication of treatment.
• When using cryotherapy to treat vascular lesions, it helps to compress the lesion at the same time as it is frozen. This can be done with a Cryogun that has a solid probe for compression. SOR C
• Cherry angiomas can be treated with light electrodesiccation using an electrosurgical instrument on a low setting without anesthesia. The tip of the instrument is lightly applied to the apex of the lesion while electrical current is engaged. The desired end point is “charring” of the lesion with minimal surrounding tissue destruction. SOR C
• Larger cherry angiomas can be removed with a shave excision after injecting with lidocaine and epinephrine. The base can be treated with electrodesiccation if needed. SOR C
• Isolated glomangiomas may be surgically excised. Sclerotherapy may be useful for multiple lesions or large segmental lesions.12 SOR C
• Cutaneous angiosarcoma is best treated with excision and wide surgical margins, as the primary tumor is often more extensive than appears on examination. Postoperative radiotherapy is then used at the primary site and regional lymphatics. If inoperable, palliative chemotherapy may be considered.3 SOR C

• When discussing any new lesions in sun-exposed areas, the clinician should take the opportunity to counsel patients on sunscreen use, avoiding direct sun during peak hours, and performing periodic skin examination.
• Patients should be fully informed about the risk of pigmentary changes and chance of recurrence if they elect for cosmetic removal of benign lesions. Avoidance of sunlight to the healing skin helps prevent a hyperpigmented scar.

None typically needed for benign lesions unless lesions recur or the patient is concerned about growth or changes to the lesions.

Patient Resources

• MedlinePlus. Cherry Angioma—http://www.nlm.nih.gov/medlineplus/ency/article/001441.htm.
• SkinCancerNet (American Academy of Dermatology). Skin Examinations—http://www.skincarephysicians.com/skincancernet/skin_examinations.html.

Provider Resources

• Medscape. Laser Treatment of Acquired and Congenital Vascular Lesions—http://emedicine.medscape.com/article/1120509.

A 56-year-old woman has had recurrent nosebleeds starting in childhood and has visible telangiectasias on her lips and tongue (Figure 202-1). In early adulthood, she was diagnosed with hereditary hemorrhagic telangiectasias (HHTs) (Osler-Weber-Rendu syndrome) and was found to have an arteriovenous malformation (AVM) in the lung requiring surgical resection. She has led a normal productive life and has two children who have not inherited this condition. Her mom had recurrent epistaxis, but never had an AVM.

Hereditary and congenital vascular lesions range from the very common and benign stork bite (a variation of nevus flammeus) to rare but serious neurocutaneous syndromes. Childhood hemangiomas are covered separately in Chapter 109, Childhood Hemangiomas and Vascular Malformations.

• HHT is an autosomal-dominant vascular disorder that affects one in several thousands of people (Figure 202-1). Certain populations in Europe and the United States have a higher prevalence of this disease.1
• Nevus flammeus, or port-wine stains, are congenital vascular malformations that occur in 0.1% to 0.3% of infants as developmental anomalies. They persist into adulthood (Figure 202-2).2 They may be associated with rare syndromes such as Klippel-Trenaunay and Sturge-Weber syndromes (Figure 202-3).
• Maffucci syndrome is a rare, nonhereditary condition characterized by hemangiomas and enchondromas involving the hands, feet, and long bones (Figure 202-4).3

• HHT is associated with mutations in two genes: endoglin on chromosome 9 (HHT type 1) and activin receptor-like kinase-1 on chromosome 12 (HHT type 2). These genes are involved in vascular development and repair. With the mutations, arterioles become dilated and connect directly with venules without a capillary in between. Although manifestations are not present at birth, telangiectasias later develop on the skin, mucous membranes, and GI tract. In addition, AVMs often develop in the hepatic (up to 70% of patients), pulmonary (5% to 300%), and cerebral circulations (10% to 15%). Any of these lesions may become fragile and prone to bleeding.1
• Port-wine stains are vascular ectasias or dilations thought to arise from a deficiency of sympathetic nervous innervation to the blood vessels. Dilated capillaries are present throughout the dermis layer of the skin.
• The bone and vascular lesions of Maffucci syndrome exist at birth or develop during childhood. Progression usually does not occur after completion of puberty.

Clinical Features

• HHT is diagnosed if three of the following four Curaçao criteria are met (and suspected if two are present):

  1. Recurrent spontaneous nosebleeds (the presenting sign in more than 90% of patients, often during childhood);

  2. Mucocutaneous telangiectasia (typically develops in the third decade of life);

  3. Visceral involvement (lungs, brain, liver, and colon); and/or

  4. An affected first-degree relative.4

• Port-wine stains are irregular red-to-purple patches that start out smooth in infancy but may hypertrophy and develop a cobblestone texture with age. Nuchal port-wine stains are associated with alopecia areata.5 Klippel-Trenaunay syndrome is characterized by vascular malformations, venous varicosities, and soft-tissue hyperplasia. Patients with Sturge-Weber syndrome often have mental retardation, epilepsy, and eye problems.2
• The cobblestone deformity of the hands and feet in Maffucci syndrome is striking (Figure 202-4).

Typical Distribution

• HHT skin manifestations are few to numerous lesions on the tongue, lips, nasal mucosa, hands, and feet. However, any skin area or internal organ may be involved.
• Port-wine stains tend to affect the face and neck, although lesions may affect any body surface, including mucous membranes. Lesions of Klippel-Trenaunay syndrome tend to affect the lower extremities. A diagnosis of Sturge-Weber syndrome requires that a port-wine stain be present in the V1 trigeminal nerve distribution (aka ophthalmic branch). Patients with port-wine stains of the eyelids, bilateral trigeminal lesions (40% of patients with Sturge-Weber syndrome), and unilateral lesions involving all three divisions of the trigeminal nerve are particularly at risk of Sturge-Weber syndrome.2

Laboratory Studies

• Check an annual complete blood count (CBC) and fecal occult blood in patients with HHT. They are at higher risk for iron-deficiency anemia because of recurrent nosebleeds and/or GI bleeding.
• Patients with benign-appearing port-wine stains, who lack other concerning symptoms, do not require laboratory testing (Figure 202-5).
• If Sturge-Weber syndrome is suspected, perform neuroimaging and glaucoma testing. Neuroimaging may reveal leptomeningeal malformations ipsilateral to the port-wine stain. An electroencephalogram may reveal epilepsy. Elevated ocular pressures or visual field deficits may indicate glaucoma.
• Investigate the musculoskeletal system in persons with Maffucci syndrome. It is associated with various benign and malignant tumors of the bone and cartilage.3

• CREST (calcinosis, Raynaud phenomenon, esophageal involvement, sclerodactyly, and telangiectasia) syndrome and scleroderma usually have multiple telangiectasias as in HHT. Other clinical features and laboratory tests such as the antinuclear antibody (ANA) and skin biopsies can differentiate between these rheumatologic conditions and HHT (see Chapter 182, Scleroderma and Morphea).
• Port-wine stains are often isolated findings but may indicate underlying Klippel-Trenaunay or Sturge-Weber syndrome. Further investigations may be necessary when these syndromes are suspected.
• Glomangiomas are blue-purple, partially compressible nodules with a cobblestone appearance. These glomuvenous malformations may appear similar to Maffucci syndrome but lack the rheumatologic component (see Chapter 201, Acquired Vascular Skin Lesions).
• Salmon patches, also known as “stork bites” or “angel kisses” (present in 40% to 70% of newborns), are a type of nevus flammeus or port-wine stain. Salmon patches are pinker than purple but are true congenital vascular malformations, not hemangiomas. The angel kisses over the face tend to fade with time but the stork bites on the nape of the neck often persist, as seen in Figure 202-6 (see Chapter 109, Childhood Hemangiomas and Vascular Malformations).2

• HHT has no cure. Oral iron supplementation and transfusions are sometimes needed as a result of bleeding. Few randomized controlled trials exist regarding treatment of bleeding. Estrogen/progesterone supplementation for heavily transfusion-dependent patients decreases recurrent bleeding.6 SOR B Case reports and uncontrolled studies regarding epistaxis treatment show some benefit from laser treatment, surgery, embolization, and topical therapy. SOR C Cauterization is not recommended because of complications from local tissue damage. Embolization procedures have been described for AVMs in the liver, lungs, and brain. Surgical resection of AVMs is sometimes done as a last resort when other measures fail.1 In short, it is often best to do as little intervention as possible with HHT and, if any intervention is done, it is done with input from specialists experienced with this disease, as complications and recurrence are frequently encountered.
• Port-wine stains may be treated with makeup (see “Patient Resources” below). Pulsed-dye laser treatment is another option, albeit expensive. Laser treatments blanch most port-wine lesions to some degree, but complete resolution is difficult to achieve and the recurrence rate is high.7 SOR C
• Patients with Maffucci syndrome often require multiple orthopedic surgeries for their enchondromatous deformities and for cosmetic purposes.3,8

• Whatever the vascular condition is, patients can benefit from reliable information about the current and future outlook for their condition.

• Patients with port-wine stains should have periodic skin checks, as other lesions may develop within the port-wine stains. Several case reports of basal cell cancers developing within port-wine stains have been described.9
• Patients with Sturge-Weber syndrome should have yearly eye examinations that include testing of intraocular pressures. SOR C
• Patients with Maffucci syndrome should be monitored closely for both skeletal and nonskeletal tumors, particularly of the brain and abdomen.8 SOR C

Patient Resources

• HHT Foundation International. Excellent patient information on HHT can be found at the Foundation's website—http://www.hht.org.
• Covermark. Port-wine stains are often psychologically detrimental. Cosmetic makeup may be purchased through Covermark—http://www.covermark.com.
• Dermablend is another effective cosmetic product for port-wine stains—http://www.dermablend.com.

Provider Resources

• Medscape. Laser Treatment of Acquired and Congenital Vascular Lesions—http://emedicine.medscape.com/article/1120509.