Abstract
Rhabdomyomatous hamartoma is a rare disease that occurs predominantly in the skin. This paper describes a congenital lesion in a 17-year-old male, who came to our clinic presenting a circumscribed swelling involving the oral mucosa and vermillion border of the upper lip, purplish in color, and blanching under pressure. The patient reported that he had had lesion since his birth. A clinical diagnosis was of congenital haemangioma, and the patient was treated by photocoagulation using diode laser. When the lesion became smaller, by having its blood content reduced, the upper portion of the lesion was sliced off with CO2 laser and the tissue was sent for microscopic analysis. Histopathological examination showed an oral mucosa fragment with proliferation of striated muscle bundles admixed with small blood vessels, collagen, and nerve fibres. A supplementary analysis with immunohistochemistry demonstrated positivity for desmin, HHF35, smooth muscle actin, S-100, and CD34. Based on these findings, the lesion was diagnosed as rhabdomyomatous hamartoma. The aesthetic result has been very satisfactory after a 14-month followup.
Highlights
Rhabdomyomatous hamartoma (RH) is a rare, congenital lesion with only a few reports, most of them affecting the skin, of the face and neck [1, 2]
This paper describes a case of RH on the upper lip, diagnosed with the aid of immunohistochemical analysis, followed by largely successful treatment with diode and CO2 lasers
Muscular fibres were positive for desmin and HHF35 (Figure 2(c)); smooth muscles of vessel walls were positive for smooth muscle actin (Figure 2(d)); nerve fibres scattered throughout the lesion were positive for S-100, and blood vessels were positive for CD34
Summary
Rhabdomyomatous (Mesenchymal) Hamartoma Presenting as Haemangioma on the Upper Lip: A Case Report with Immunohistochemical Analysis and Treatment with High-Power Lasers. This paper describes a congenital lesion in a 17-year-old male, who came to our clinic presenting a circumscribed swelling involving the oral mucosa and vermillion border of the upper lip, purplish in color, and blanching under pressure. A clinical diagnosis was of congenital haemangioma, and the patient was treated by photocoagulation using diode laser. A supplementary analysis with immunohistochemistry demonstrated positivity for desmin, HHF35, smooth muscle actin, S-100, and CD34. Based on these findings, the lesion was diagnosed as rhabdomyomatous hamartoma. The aesthetic result has been very satisfactory after a 14-month followup
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