Oral leiomyomatous hamartoma of the ventral tongue associated with minor congenital malformation

a sporadic or familial event?

Abstract

Background: Oral leiomyomatous hamartoma (OLH) is a rare benign malformation characterized by the disorganized proliferation of mature smooth muscle fibers. The tongue is the most commonly affected oral site, with lesions predominantly occurring in embryonic fusion areas such as the dorsal or basal surface. To date, no cases involving the ventral surface of the tongue body in adult patients have been documented, highlighting the novelty and clinical relevance of the present report. Objective: To describe the first reported case of OLH located on the ventral surface of the tongue in an adult patient and to discuss its clinical, histopathological, and immunohistochemical features. Case Report: A 34-year-old female presented with a solitary, asymptomatic, slow-growing nodular lesion on the ventral surface of the tongue, initially suggestive of a Blandin–Nuhn gland mucocele. The lesion was surgically excised and submitted for histopathological evaluation, which revealed a disorganized proliferation of smooth muscle bundles interspersed with blood vessels of varying calibers. Immunohistochemical staining demonstrated strong positivity for α-SMA, CD34 positivity restricted to vascular endothelial cells, and focal podoplanin expression in marginal lymphatic vessels, confirming the diagnosis of OLH with angioleiomyomatous features. No recurrence was observed after an 11-month follow-up period. Conclusion: This case represents the first documented occurrence of OLH on the ventral surface of the tongue in an adult patient, expanding the current anatomical spectrum of this entity. The clinical similarity to salivary gland lesions underscores the need to consider OLH in the differential diagnosis of ventrolingual nodules. Despite the association of postaxial polydactyly type B with mutations in the GLI3 gene, the clinical, histopathological, and immunohistochemical findings did not support a syndromic correlation with OLH, suggesting a sporadic association. Accurate diagnosis relies on clinical examination together with histopathological and immunohistochemical analysis, and conservative surgical excision remains as the effective treatment with excellent prognosis.