Dermatology Program, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts.
J Am Acad Dermatol. 2013 Oct;69(4):589-94. doi: 10.1016/j.jaad.2013.05.030. Epub 2013 Jul 29.
Categorization of vascular anomalies with overgrowth is evolving rapidly with the aid of massively parallel genomic sequencing; however, accurate clinical diagnosis is still essential. We identified a group of patients with an extensive, diffuse, reticulate capillary malformation (CM) and variable hypertrophy without major complications.
We sought to study a subset of patients with diffuse CM to better define prognosis and management.
Chart review identified 73 patients with diffuse CM who did not fit the criteria for known disorders with CM and/or overgrowth.
Soft-tissue or bony overgrowth did not correlate with location, morphology, or intensity of the vascular stain. Patients required periodic follow-up to monitor for leg length discrepancy. They were found to exhibit normal neurologic development and proportionate overgrowth rather than progressive, disproportionate asymmetry or vascular complications.
This retrospective review was limited to observations documented at clinic visits; these patients require long-term assessment. Further studies are necessary to accurately assess Wilms tumor risk and clinical outcomes in older adults.
We propose the term "diffuse capillary malformation with overgrowth" to designate this extensive reticular vascular staining with proportionate overgrowth. We differentiate diffuse capillary malformation with overgrowth from other disorders with CM and hypertrophy.
在大规模平行基因组测序的帮助下，血管畸形的分类与过度生长的分类正在迅速发展；然而，准确的临床诊断仍然是必不可少的。我们发现了一组患有广泛、弥漫、网状毛细血管畸形（CM）和可变肥大但没有重大并发症的患者。
我们试图研究一组弥漫性 CM 患者，以更好地定义预后和管理。
通过病历回顾，确定了 73 名患有弥漫性 CM 的患者，他们不符合已知的 CM 和/或过度生长疾病的标准。
软组织或骨骼过度生长与血管染色的位置、形态或强度无关。患者需要定期随访，以监测腿长差异。他们被发现表现出正常的神经发育和比例性过度生长，而不是进行性、不成比例的不对称或血管并发症。
本回顾性研究仅限于在诊所就诊时记录的观察结果；这些患者需要长期评估。进一步的研究对于准确评估老年人的 Wilms 肿瘤风险和临床结局是必要的。
我们提出“弥漫性毛细血管畸形伴过度生长”这一术语来表示这种广泛的网状血管染色伴比例性过度生长。我们将弥漫性毛细血管畸形伴过度生长与其他具有 CM 和肥大的疾病区分开来。
