Whisonant Cees T, Shahriari Shawhin R, Harrison Joshua L, Ederle Ashley E, Borah Gregory L, Shetty Anil K
Division of Plastics, Hand, Reconstructive & Burn Surgery, Department of Surgery, University of New Mexico School of Medicine, Albuquerque, USA.
Internal Medicine, University of New Mexico School of Medicine, Albuquerque, USA.
Cureus. 2021 Jun 19;13(6):e15756. doi: 10.7759/cureus.15756. eCollection 2021 Jun.
Venous malformations (VMs) may manifest clinically in a broad spectrum. Most VMs are sporadic with previous studies reporting less than 1.2% to be inherited. Conversely, multifocal lesions, such as glomuvenous malformations (GVMs), which have glomus cells in their vascular walls, have been reported to have a frequency of inheritance of 63.8%. Both VMs and GVMs may occur due to sporadic mutation and must be differentiated clinically because this will dictate their proper treatment. Sporadic GVMs involve skin and subcutis, with bluish-purple coloration, are painful to compression, and have no radiographic evidence of phleboliths. Previous studies have demonstrated that VMs are almost always associated with a single lesion that is nontender to compression and are often able to be diagnosed by the presence of phleboliths on radiographic imaging. We present a case of a 14-year-old right-hand-dominant male who presented with two distinct VMs on the dorsum of the right index finger at the proximal and middle phalanges. A previously biopsied lesion overlying the ipsilateral olecranon, which was reported as a possible glomus tumor versus vascular malformation, was present as well. Based on history, physical examination, multicentric presentation, and radiographic findings, the presumptive diagnosis was that the lesions were GVMs. However, after surgical excision and histopathologic examination, the lesions were determined to be VMs because of the absence of glomus cells. Due to the difference in treatment modalities for VMs and GVMs, the ability to accurately diagnose these lesions clinically is essential. This case represents an anomalous presentation of multiple venous malformations occurring in two distinct locations in a 14-year-old boy.
静脉畸形（VMs）在临床上可能有广泛的表现。大多数VMs是散发性的，先前的研究报告显示遗传性VMs不到1.2%。相反，多灶性病变，如血管球静脉畸形（GVMs），其血管壁中有血管球细胞，据报道遗传频率为63.8%。VMs和GVMs都可能由于散发性突变而发生，并且必须在临床上进行区分，因为这将决定它们的正确治疗方法。散发性GVMs累及皮肤和皮下组织，呈蓝紫色，受压时疼痛，影像学检查没有静脉石的证据。先前的研究表明，VMs几乎总是与单个病变相关，该病变受压时无压痛，并且通常可以通过影像学检查中静脉石的存在来诊断。我们报告一例14岁右利手男性病例，其右手食指近节和中节指背出现两个不同的VMs。同侧鹰嘴上方先前活检的病变也存在，该病变报告为可能是血管球瘤或血管畸形。根据病史、体格检查、多中心表现和影像学检查结果，初步诊断为这些病变是GVMs。然而，手术切除和组织病理学检查后，由于没有血管球细胞，确定病变为VMs。由于VMs和GVMs的治疗方式不同，临床上准确诊断这些病变的能力至关重要。该病例代表了一名14岁男孩在两个不同部位出现多个静脉畸形的异常表现。
