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What is CLOVES?

先天性脂肪肿瘤过度生长，血管畸形，表皮nevis，脊柱/骨骼异常/脊柱侧弯（丁香）综合征是一种非常罕见的先天性（出生时出现），其特征是血管（涉及血管），皮肤，脊柱和骨骼和骨骼，骨骼和骨骼，骨骼和骨骼，脊柱和骨骼，脊柱和骨骼，脊髓和骨骼，脊髓，骨骼和骨骼的组合或关节异常。

迄今为止，全世界已经确定了丁香综合征的少于200例。丁香被认为是由称为的基因中的突变引起的PIK3CA. The long-term picture for a child with CLOVES depends on age and how serious the symptoms are. The sooner the disease is detected and the proper course of treatment is started, the better the general outlook.

What are the symptoms of CLOVES?

The symptoms of CLOVES can vary a great deal from child to child and can range from mild to severe. They are always present at birth but might not be noticeable right away, depending on how extensive they are.

Generally, in order to be diagnosed with CLOVES syndrome, a child will have one or more of the following:

  • soft, fatty masses on their torso or trunk (usually on their back, flank, or abdomen)
  • 血管（血管）畸形 - 最常见的是port wine stain birthmark,lymphatic malformation,arteriovenous malformation, or enlarged veins or a combination of these
  • limb abnormalities (typically, wide feet or toes and large or extra fingers or toes)
  • 脊柱问题（在许多情况下，scoliosis或者系绳脊髓). The presence of these abnormalities often indicates that a child is more likely to have CLOVES syndrome instead of a similar disorder.
  • skin abnormalities (most often, raised, wart-like bumps called epidermal nevi)

较不常见的症状可能包括：

  • 膝盖或髋关节问题
  • kidneys that are unusually small or uneven in size

是什么导致丁香综合征？

Research byMatthew Warman, MD，波士顿儿童的主任骨科研究实验室， 和pathologist Kyle Kurek, MD, has revealed that CLOVES is caused by mutations in a gene calledPIK3CA. These mutations arise spontaneously in the womb, while a baby is developing. Thus far, there are no known risk factors that would make these mutations more or less likely to occur.

我们如何照顾丁香综合症

CLOVES was first described as a unique conditionin 2009 by a clinical and research team led byAhmad Alomari, MD, co-director of the血管异常中心在波士顿儿童。我们在治疗众多丁香综合症患者方面的经验使我们了解了要寻找哪些症状以及如何相应地计划治疗的知识。

我们的团队采用跨学科的方法来照顾我们看到的每个孩子。这意味着，来自许多不同专业的临床医生都在治疗丁香方面具有专业知识，将使您的孩子成为一个团队。这种方法对丁香至关重要，因为它会影响孩子身体的许多不同部位。

我们的丁香综合症创新领域

TheVAC已经在包括丁香在内的血管异常上生成了广泛的病例数据库。VAC临床医生使用此数据库进行研究，可能导致新的，更有效的疗法的发展，并可能最终导致防止丁香和其他血管异常的方法。随着数据库的增长，它将有助于更多地亮起丁香和其他血管异常。

诊断和治疗

丁香综合症如何诊断？

因为丁香综合征的症状可能是微妙的或显而易见的，因此从经验丰富的vascular anomalies specialist.

To diagnose CLOVES syndrome, doctors will usually combine these steps:

CLOVES is still not widely known and so rare that an ultrasound is not a foolproof way to detect it. A clinical exam must be performed after birth.

Children with CLOVES syndrome are often mistakenly diagnosed as having other disorders that cause overgrowth of the blood vessels and abnormalities in certain parts of the body, such as:

  • Hemihypertrophy: a condition in which the structures on one side of a child’s body are larger than on the other
  • Klippel-Trenaunay syndrome：一种引起腿部异常脂肪生长，静脉扩张，淋巴畸形和港口葡萄酒染色胎记的罕见疾病
  • Proteus综合征：一种罕见的疾病，导致骨骼，皮肤和软组织的逐渐畸形

The main difference between these conditions and CLOVES is that CLOVES causes a combination of vascular, skin, and limb/torso abnormalities and truncal/spinal abnormalities (like fatty masses,scoliosis，或系绳绳）。

丁香综合征的治疗选择是什么？

无法治愈丁香综合症，但是经验丰富的血管异常专家可以通过正确的医疗和手术护理来管理或预防症状。

Some of the treatments your child's care team might recommend include:

  • Drug therapy with sirolimus:Also known as rapamycin, this oral medication suppresses the immune system and slows the growth of abnormal lymphatic vessels that cause the vascular anomalies present in children with CLOVES. It can also improve symptoms, including pain.
  • 硬化疗法: This non-surgical procedure can help reduce the size of the vascular anomalies associated with CLOVES, as well as the pain they may cause.
  • 栓塞：这种最小的侵入性程序用于减少arteriovenous malformationsand other vascular anomalies associated with CLOVES syndrome.
  • 延迟手术: Some children need debulking surgery to remove a portion of the overgrown tissue and blood vessels caused by CLOVES syndrome. Though debulking is a major, invasive operation, it can be life-changing for children who have limited mobility due to limb abnormalities or painfully overgrown veins.
  • IVC filter：一种称为下腔静脉（IVC）滤波器的装置可以防止肺栓塞，威胁生命的凝块，这些凝块可以形成并通过血液，并进入丁香儿童的肺部。该过滤器是通过外科手术植入的，位于下腔静脉（负责从儿童下半身传输血液的主要腹部静脉），并在到达心脏和肺部之前将其捕获。

丁香综合症的长期前景是什么？

CLOVES is a rare disease that affects each child differently. Your child's long-term outlook will depends on many factors, including:

  • 诊断年龄（开始治疗较早，越好）
  • 具体症状
  • 总体健康

Many children with CLOVES do very well when the disease is mild and diagnosed early. Your child’s doctor will give you specific information about a recommended plan of care and long-term outlook.

程序和服务

部门

神经外科

部门

波士顿儿童医院 - 神经外科部

Programs

血管异常中心(VAC)

Program

波士顿儿童医院血管异常中心照顾所有血管畸形和血管肿瘤的患者。学到更多。
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