Glomuvenous Malformations

A 26-year-old patient with no history of disease presented to us with bluish skin discolorations which had been increasing in numbers and size over the last three years (Figure 1). He also reported intermittent episodes of sudden swelling of the lesions that subsided spontaneously. He could not recall any trigger. Clinical examination found pinhead-sized bluish subcutaneous nodules. Histology revealed large masses in the lower corium and at the transition to subcutaneous fatty tissues with formation of lumina and adjacent round tumor cells. In germline DNA (from leucocytes), the known pathologic variant c.108C > A (p.Cys36*) was identified in the GLMN gene, confirming the clinical diagnosis of glomuvenous malformations (glomangioma, OMIM # 138000) through molecular genetic testing. The condition is characterized by hereditary vascular malformations with benign cutaneous neoplasms. Up to 5% of venous anomalies are glomuvenous malformations. This autosomal dominant disease is caused by heterozygous pathogenic variants in the GLMN gene. If the condition is suspected based on clinical findings, genetic testing should be performed. Malignant degeneration has not been reported. Besides complete excision, treatment options include CO₂ laser and argon laser therapy.

Figure

The section shows a tumorous mass with dilated vascular lumina

Dr. med. Friedrich Stock, Institut für Humangenetik, Universitätsklinikum Essen

PD Dr. med. Stefan Krüger, Medizinische Genetik, Dresden, Gemeinschaftspraxis für Humangenetik

Dr. med. Georg Lodde, Klinik für Dermatologie, Universitätsklinikum Essen, [e-mail]

Conflict of interest: The authors declare no conflict of interest.

Translated from the original German by Ralf Thoene, MD.

Cite this as: Stock F, Krüger S, Lodde G: Glomuvenous malformations. Dtsch Arztebl Int 2025; 122: 327. DOI: 10.3238/arztebl.m2025.0063