Practice Essentials
Tufted angiomas are rare vascular tumors characterized by tightly packed capillaries (“tufts”) in discrete lobules scattered through the dermis and, sometimes, subcutaneous tissue. Although adult-onset cases have been described, tufted angiomas occur far more frequently in infants and children. Tufted angiomas usually have a benign course, with only rare reports of aggressive behavior or local invasion. [1] However, tufted angiomas seldom self-involute. [2]
The pathogenesis of tufted angiomas is not well understood. Vascular markers (CD31 and CD34), vascular endothelial growth factor receptor-3 (VEGFR-3), and lymphatic markers (D2-40 and PROX1) on the neoplastic cells suggest they may be derived from the endothelial cells of lymphatic vessels. [3, 4]
Tufted angioma is a benign tumor, with very rare reports of deaths directly or indirectly attributable to complications. However, pain and tenderness are common associated symptoms, and hyperhidrosis is a frequent finding that occurs in 30% of patients. [5]
The growth pattern of tufted angioma tends to be slow and progressive (ie, occurring over 5 months to 10 years). However, an occasional tufted angioma undergoes a rapid expansion phase that leads to localized swelling and a decreased range of motion of the structures in the affected area.
Kasabach-Merritt syndrome, characterized by severely low platelets and coagulopathy, has been reported to occur in 10% of patients with a diagnosis of tufted angioma. Fortunately, most of these patients have a favorable response to treatment.
Causes
No causes of tufted angioma have been established. Trauma does not appear to be a predisposing factor.
Several authors have noted the development of tufted angioma within port-wine stains or in the context of these stains. [6, 7, 8]
Some authors have postulated that high hormonal levels during pregnancy and puberty may induce the development of tufted angiomas. [9, 10] However, these etiologies are not supported in current medical literature as causes of tufted angiomas.
In a single case, tufted angioma was noted to have developed at the injection site of a hepatitis B vaccination. [11]
Diagnostics
A diagnosis of tufted angiomas is classically suspected in an infant or young child presenting with a red or violet vascular lesion with ill-defined borders present on the trunk or extremities. Hypertrichosis and/or excessive sweating overlaying the lesion further supports a diagnosis of tufted angioma.
Upon suspicion of tufted angioma, a biopsy specimen to obtain histological confirmation should be obtained whenever possible. However, there are times when a biopsy carries more risk than benefit and is deferred, such as when the lesion is highly vascular and/or the patient also presents with thrombocytopenia and coagulopathy. When a risky biopsy is pursued, there should be careful planning and communication between the surgeon, anesthesiologist, hematologist, and pathologist to ensure preparation with platelets, fresh frozen plasma, and other supportive measures if needed intraoperatively and postoperatively.
Magnetic resonance imaging studies have been proven useful in the examination of patients with deep and/or extensive tufted angiomas. MRI has been successful in evaluating the depth of invasion and extent of growth of tufted angiomas that extend deep into the muscle and fascia, as well as in documenting the response to treatment. [5]
Treatment
The treatment for tufted angioma is multimodal and individualized, depending on the extent of tumor invasion, tumor size, presence of symptoms, and presence or absence of Kasabach-Merritt syndrome. Treatment generally consists of one or multiple approaches, including surgical excision, pulsed-dye laser (for superficial tumors), and several medications and chemotherapy agents. The efficacy of one treatment approach over another has not been established in large randomized clinical trials, and current available evidence is based on anecdotal clinical experience, case reports, and small case series.
For example, in a single case in a 4-month-old male, clinicians treated tufted angioma with timolol gel 0.5% 3 times per day for 4 months with reported near-complete resolution of symptoms. [12] Other treatments that have met with success in individual patients or small clinical trials include oral propranolol followed by foam sclerotherapy using 1 mL of sodium tetradecyl sulfate 3% [13] and topical tacrolimus 0.1%. [14]
For patients with small tufted angiomas who are asymptomatic, observation only can be considered. There have been a few reports of patients whose tufted angiomas spontaneously regressed in infancy and childhood. [15, 16, 17]
Consultations
If Kasabach-Merritt syndrome is suspected in a child, consultation with a hematologist/oncologist and a dermatologist may be indicated.
Long-term monitoring
In patients who opt not to undergo medical or surgical management, tumors should be carefully monitored for size expansion and the development of Kasabach-Merritt syndrome.
Epidemiology
Tufted angiomas are rare, and the true incidence is unknown. As of 2015, only 158 cases are described in the English-language literature. [18]
No racial predilection is recognized for tufted angioma. The prevalence of tufted angioma is equal in males and females.
Approximately 50% of cases of tufted angiomas present at birth, while most other cases develop within the first year of life. [15] Although rare, there are reports of onset later in childhood and even in adulthood.
Less than 10% of tufted angiomas develop in individuals older than 50 years, and tumors in persons older than 60-80 years are rare. [2, 19] One 81-year-old patient with a tufted angioma of 2 years' duration is reported in the French-language literature, and a case has been described in an 84-year-old man in Japan. [20, 21]
One case report describes a 69-year-old man who was found to have an intracranial tufted angioma, suggesting potential for aggressive behavior and invasion into the brain. [1] Another case describes a 40-year-old man with a 2-year history of a lesion on his lower eyelid, which was confirmed on histology to be a tufted angioma. [22]
Prognosis
Tufted angiomas may spontaneously regress or may regress after treatment, but they do not completely resolve. [15, 23, 24] In fact, in a study of patients 10 years after diagnosis and treatment of tufted angioma, presence of tumor was still evident on repeat biopsy. [25] Pain and tenderness are common associated symptoms, and hyperhidrosis is a frequent finding that occurs in 30% of patients. [5]
The growth pattern of tufted angioma tends to be slow and progressive (ie, occurring over 5 months to 10 years). However, an occasional tufted angioma undergoes a rapid expansion phase that leads to localized swelling and a decreased range of motion of the structures in the affected area. One report described a patient with a painful tufted angioma on the lateral neck and jaw. The tumor also had deep extension into the underlying fascia and muscle, a rare finding. [26]
Residual lesions after treatment of tufted angioma usually looks like one of three patterns: (1) discoloration resembling a port-wine stain with superimposed papules, (2) an indurated area with telangiectasias, or (3) a fibrotic infiltrate within the subcutaneous tissue. Long-term symptoms can include chronic pain and swelling.
Kasabach-Merritt syndrome occurs in association with tufted angioma in approximately 10% of patients. Fortunately, most of these patients have a favorable response to treatment without further sequelae. However, there is a mortality rate of up to 24% in patients with Kasabach-Merritt syndrome. [27] Death in these cases results from bleeding, sepsis, invasion of a vital structure, or organ failure. [28]
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This lesion is a tufted angioma in a 1-year-old girl. Present since birth, this bluish-red hemangioma-like plaque on the patient's right upper leg slowly enlarged and became tender during the month prior to presentation. The child was otherwise well. A skin biopsy specimen revealed dilated congested capillaries in the lower dermis and subcutis. Clusters of capillaries with hyperplastic endothelial cells were also scattered in the mid and upper parts of the dermis. The epidermis revealed a slight basket-weave orthokeratosis, with minimal acanthosis, and papillomatosis. The patient was treated conservatively with only observation. The lesion remained stable and did not progress since presentation. Courtesy of National Skin Centre, Singapore.
