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GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations

Mollie Helena McMahon1, Nasim Tahir2, Meena Balasubramanian3,4

  • 1Department of Paediatrics, Sheffield Children's Hospital, Sheffield, UK.

BMJ Case Reports
|June 22, 2022
PubMed

Insights

Glomuvenous malformations (GVMs) are genetic vascular anomalies often presenting as skin lesions. A two-hit genetic model involving the GLMN gene explains familial GVMs, as seen in affected siblings.

Area of Science:

  • Vascular Biology
  • Medical Genetics
  • Dermatology

Background:

  • Cutaneous venous malformations (VMs) manifest as blue-pink lesions, causing pain, cosmetic concerns, and bleeding.
  • Familial occurrence is noted in some VMs, particularly glomuvenous malformations (GVMs).

Observation:

  • GVMs are hypothesized to arise from a 'two-hit' genetic mechanism.
  • This involves an initial germline pathogenic variant in the GLMN gene, followed by a second somatic hit.

Findings:

  • This report details siblings diagnosed with GVMs via genetic testing.
  • Literature review highlights clinical and genetic distinctions among VM subtypes.

Implications:

  • Understanding the genetic basis of GVMs aids in diagnosis and management.
  • Differentiating VM types is crucial for patient care and genetic counseling.

Keywords:
DermatologyGenetic screening / counsellingInterventional radiologyPaediatrics

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