Symptomatic Glomuvenous Malformation of the Anterior Chest: Clinical Presentation, Surgical Management, and Genetic Considerations.

Introduction: Glomuvenous malformations (GVMs), historically referred to as "glomangiomas," are rare venous malformations characterized by the presence of smooth muscle-like glomus cells around vein-like channels. A subset of these lesions arises due to heterozygous mutations in the glomulin (GLMN) gene. This case report describes the clinical presentation, surgical excision, and histopathologic evaluation of a glomuvenous malformation, highlighting the key role of genetic testing and the importance of differentiating GVMs from other vascular anomalies.

Methods: A 2-year-old male was found to have multiple small, flat, blue-gray lesions of the skin during his well-child visit. The patient underwent imaging studies to characterize the lesion's extent and vascularity, followed by complete surgical excision. Blood and biopsy samples from the procedure were sent to another institution for genetic testing.

Results: Genetic analysis of samples were positive for germline and somatic mutations of the GLMN gene at nucleotide positions c.157_161 and c.661, creating truncated glomulin proteins through premature stop codons. These genetic variants are consistent with a diagnosis of GVM. Postoperative follow-up demonstrated no evidence of recurrence.

Conclusions: Glomuvenous malformations are clinically distinct from other venous malformations due to their histology, mutational etiology (GLMN), and characteristic appearance. Proper recognition of GVMs is critical to guide management, avoid unnecessary investigations, and offer genetic counseling for families. Complete surgical excision remains curative for symptomatic, localized lesions.