A 6-month-old girl was evaluated for multiple asymptomatic vascular lesions since birth that her pediatrician had previously diagnosed as “hemangiomas.” She was developmentally normal. Physical examination revealed nontender, poorly demarcated, slightly depressed, erythematous-violaceous plaques of varying sizes and asymmetric shapes on her scalp, chest, abdomen, right inguinal region, thighs, and back (Figures 1 and 2). There were noticeable overlying telangiectasias but no ecchymoses or petechiae.
Histology and Genetic Findings
Skin biopsy revealed numerous dilated vascular lumina lined with flattened endothelium and rows of cuboidal cells with pale nuclei and eosinophilic cytoplasm, consistent with glomus cells. Using an immunohistochemical method, these cells also stained positive for smooth muscle actin. Genetic testing revealed a thymine-to-guanine nucleotide substitution in the glomulin gene, confirming the diagnosis of glomuvenous malformation (GVM). The mother had a small, nontender, vascular patch above her right knee, a biopsy of which showed telangiectasias without evidence of glomus cells. The mother refused genetic testing for herself.
Treatment and Follow-up Reports
We chose a single plaque on her back as a test area for irradiation to determine appropriate settings before more widespread use of combined pulsed dye laser (PDL) and neodymium-doped yttrium aluminum garnet (Nd:YAG) laser (Cynergy Multiplex, Cynosure, Westford, MA). Several fluences were tested using only the PDL. An initial setting of 6 J/cm2 was chosen because it was the minimal purpuric dose. A conservative Nd:YAG setting of 110 J/cm2 was used according to the manufacturer's recommendations in treating a venous lesion of this size. The remainder of the test plaque on the patient's back was treated using a 10-mm hand-piece with a PDL setting of 6 J/cm2 and a 0.5-ms pulse width (29 pulses applied) and a Nd:YAG setting of 110 J/cm2 and a 20-ms pulse width (25 pulses applied). After 6 weeks, the test plaque was significantly reduced in size and color. The patient tolerated the procedure without any adverse effects, so we treated the remaining plaques over the rest of her body every 6 weeks. Because of concerns over hair loss, the plaque on the scalp was left untreated. After completion of six laser treatments, her plaques were significantly smaller (Figures 3 and 4). At 18-month follow-up, the patient retained near-clearance of all laser-treated plaques.
GVMs, previously termed multiple glomus tumors or glomangiomas, are congenital, benign, vascular neoplasms. At one time considered a subtype of venous malformations (VMs) but now a distinct entity, GVMs are characterized by malformed vascular channels deficient in smooth muscle and lined by numerous uniform, round cells. They can be sporadic or familial and are secondary to loss of function mutations in the glomulin gene at chromosome 1p21. Current treatment options for GVMs include excision, sclerotherapy, and laser.
The Nd:YAG laser, alone and in sequential therapy with PDL, has been reported to be efficacious for venous malformations,[1-3] although the literature on laser therapy specifically for GVMs is minimal. Ablative therapy with argon–carbon dioxide has been effective only for superficial lesions, whereas PDL has been useful for pain relief and plaque flattening. A single case report exists regarding holmium:YAG to remove an intranasal GVM. We herein demonstrate the safety and efficacy of combined PDL and Nd:YAG laser therapy for a 6-month-old with moderate body surface involvement. The mechanism for its effectiveness probably involves deeper penetration of tissue, because GVMs can affect the dermis and hypodermis. For our patient, the decision to combine PDL with Nd:YAG was made rather than treating her GVMs with either laser alone because her GVMs contained superficial and deep vessels. PDL and Nd:YAG should be combined for widespread areas only after determination of the minimal purpuric dosing based on spot testing of the PDL. If possible, it is preferable to choose an area for spot testing that will cause less cosmetic concern should there be side effects. Furthermore, the potential for side effects such as ulceration and scarring is much greater when using Nd:YAG, especially in children. Care must be taken to ensure appropriate conservative initial settings of the Nd:YAG based on lesion-specific individual laser recommendations. To the best of our knowledge, this is the youngest patient ever reported with GVMs successfully treated using PDL and Nd:YAG combination laser. In addition, laser therapy was so effective in this case that surgical intervention was no longer needed, leading to high satisfaction and good clinical and cosmetic outcomes.