Department of Paediatrics, Sheffield Children's Hospital, Sheffield, UK.
Department of Paediatric Radiology, Leeds Children's Hospital, Leeds, West Yorkshire, UK.
BMJ Case Rep. 2022 Jun 22;15(6):e246114. doi: 10.1136/bcr-2021-246114.
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 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.
皮肤静脉畸形常表现为皮肤或黏膜表面的蓝-粉色病变。对于那些经历疼痛或影响美观的病变的患者来说，这些病变可能会造成问题，并且还可能与明显的出血有关。据报道，一部分静脉畸形存在家族聚集性，特别是静脉球瘤样畸形（glomuvenous malformations，GVMs）。遗传致病性变异的“两次打击”似乎可以解释 GVM 的出现，最初的改变发生在种系拷贝中，随后是第二次体细胞打击。在这里，我们讨论了一对出现这种病变的兄弟姐妹的病例报告，这些病变通过基因检测被诊断为 GVM。我们还回顾了关于这些静脉畸形组之间的临床和遗传差异的文献。
