As the lesion was growing, getting more violaceous and indurated, a biopsy was performed. The biopsy showed multiple discrete lobules of dermal capillaries with slight extension into the superficial subcutis. Capillary lobules demonstrate the “cannonball-like” architecture often associated with tufted angioma, and some lobules showed bulging into adjacent thin-walled vessels. Spindled endothelial cells lining slit-like vessels were present in the mid dermis, although this comprises a minority of the lesion. The majority of the subcutis was uninvolved. The findings are overall most consistent with a tufted angioma.
Kaposiform hemangioendothelioma (KHE) has been considered given the presence of occasional slit-like vascular spaces; however, the lesion is predominantly superficial and therefore the lesion is best classified as tufted angioma. GLUT–1 staining was negative.
At the time of biopsy, blood work was ordered, which showed a normal complete blood count with normal number of platelets, slightly elevated D-dimer, and slightly low fibrinogen. Several repeat blood counts and coagulation tests once a week for a few weeks revealed no changes.
The patient was started on aspirin at a dose of 5 mg/kg per day. After a week on the medication the lesion was starting to get smaller and less red.
Tufted angiomas are a rare type of vascular tumor within the spectrum of kaposiform hemangioendotheliomas. Most cases present within the first year of life; some occur at birth. They usually present as papules, plaques, or erythematous, violaceous indurated nodules on the face, neck, trunk, and extremities. The lesions can also be present with hyperhidrosis and hypertrichosis. Clinically, the lesions will have to be differentiated from other vascular tumors such as infantile hemangiomas, congenital hemangiomas, and Kaposi’s sarcoma, as well as subcutaneous fat necrosis of the newborn, cellulitis, and nonaccidental trauma.
Pathogenesis of tufted angiomas is poorly understood. A recent case report found a somatic mutation on GNA14.This protein regulates Ras activity and modulates endothelial cell permeability and migration in response to FGF2 and VEGFA. The p.205L mutation causes activation of GNA14, which upregulates pERK-MAPK pathway, suggesting MAPK inhibition as a potential target for therapy. Clinically, tufted angioma can present in three patterns: uncomplicated tufted angioma (most common type); tufted angioma without thrombocytopenia but with chronic coagulopathy, as it was seen in our patient; and tufted angioma associated with Kasabach-Merritt phenomenon (KMP). KMP is characterized by thrombocytopenia in association with microangiopathic hemolytic anemia, consumptive coagulopathy, and enlarging vascular tumor. Treatment of uncomplicated tufted angioma will depend on symptomatology, size, and location of the lesion. Smaller lesions in noncosmetically sensitive areas can be treated with surgical excision. Cases that are not amenable to excision can be treated with aspirin. There are also reports of response to topical modalities including tacrolimus and timolol. For complicated cases associated with KMP, sirolimus, systemic corticosteroids, ticlopidine, interferon, or vincristine are recommended. Some lesions may demonstrate spontaneous regression.
Dr. Matiz is a pediatric dermatologist at Southern California Permanente Medical Group, San Diego.
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