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Case Reports: Rare disease
GLMN causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations
  1. Mollie Helena McMahon1,
  2. Nasim Tahir2 and
  3. Meena Balasubramanian3,4
  1. 1Department of Paediatrics, Sheffield Children's Hospital, Sheffield, UK
  2. 2Department of Paediatric Radiology, Leeds Children's Hospital, Leeds, West Yorkshire, UK
  3. 3Oncology & Metabolism, University of Sheffield, Sheffield, Sheffield, UK
  4. 4Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK
  1. Correspondence to Dr Meena Balasubramanian; m.balasubramanian{at}sheffield.ac.uk

Abstract

Cutaneous venous malformations frequently present with blue-pink lesions on the skin or mucosal surfaces. They can be problematic for patients who experience pain or unsightly lesions and can also be associated with significant bleeding. A proportion of venous malformations have been noted to occur in families, in particular glomuvenous malformations (GVMs). A ‘two-hit’ occurrence of genetic pathogenic variants appears to explain the appearance of GVMs, with the initial change in the germline copy of GLMN followed by a second somatic hit. Here we discuss a report of siblings experiencing such lesions, which were diagnosed as GVMs by genetic testing. We include a review of the literature regarding the clinical and genetic differences between these groups of venous malformations.

  • Interventional radiology
  • Paediatrics
  • Genetic screening / counselling
  • Dermatology

https://doi.org/10.1136/bcr-2021-246114

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    Footnotes

    • Contributors MHM collated clinical data and wrote the manuscript, MB supervised the write-up. NT provided the MRI and clinical history of the initial presentation to radiology. All authors reviewed the write up and approved the first submitted draft. MB provided insights into the methodology of testing the patients in the case report.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.