Summary about Disease
Glomuvenous malformations (GVMs) are rare, benign vascular malformations involving abnormal clusters of glomus cells, smooth muscle cells, and vascular channels. They typically present as bluish or purplish, often painful, nodules or plaques in the skin, most commonly on the extremities. GVMs are usually congenital, meaning they are present at birth or develop shortly thereafter. They can be solitary or multiple and vary in size. Unlike some other vascular malformations, GVMs are typically painful, especially with pressure or temperature changes.
Symptoms
The primary symptom of GVMs is the presence of single or multiple bluish-purple nodules or plaques on the skin. These lesions are often painful, with pain exacerbated by pressure, cold temperatures, or prolonged standing. The pain can range from mild tenderness to severe, throbbing pain. Lesions can vary in size from a few millimeters to several centimeters. In some cases, the lesions may become raised or ulcerated. The skin around the GVM can sometimes be sensitive or have altered sensation.
Causes
GVMs are caused by mutations in the GLMN gene, which encodes glomulin. Glomulin plays a crucial role in vascular smooth muscle cell development and function. These mutations disrupt the normal structure and function of glomus cells, leading to the formation of abnormal vascular channels characteristic of GVMs. Most cases are inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is sufficient to cause the condition. However, spontaneous mutations can also occur, leading to GVMs in individuals with no family history of the condition.
Medicine Used
There is no specific medication to cure GVMs. Pain management is a crucial aspect of treatment. Options include:
Pain relievers: Over-the-counter or prescription pain medications, such as NSAIDs (non-steroidal anti-inflammatory drugs) or, in severe cases, opioids, may be used to manage pain.
Calcium channel blockers: These medications, such as nifedipine, may help to reduce pain by relaxing blood vessels.
Other pain management strategies: Topical treatments, compression therapy, and physical therapy may also be helpful in managing pain. Surgical or interventional procedures (described elsewhere) are often the primary treatment to reduce the size or remove the lesion.
Is Communicable
No, GVMs are not communicable. They are caused by genetic mutations and cannot be spread from person to person.
Precautions
Since GVMs are genetic, there are no preventative measures. General management precautions include:
Avoidance of triggers: Minimize exposure to cold temperatures or prolonged standing if these exacerbate symptoms.
Compression therapy: Wearing compression stockings or sleeves can help reduce swelling and pain in the affected area.
Gentle care: Avoid trauma or pressure to the affected area to prevent pain or ulceration.
Regular follow-up: Regular follow-up with a healthcare provider is important to monitor the condition and manage symptoms.
How long does an outbreak last?
GVMs are not characterized by outbreaks that resolve. The malformations are typically present chronically, with symptoms fluctuating in intensity. Pain may be intermittent or constant. Individual lesions persist unless treated.
How is it diagnosed?
Diagnosis of GVMs typically involves:
Physical examination: A healthcare provider will examine the skin lesions and assess the symptoms.
Medical history: The provider will inquire about personal and family history of vascular malformations or related conditions.
Dermoscopy: Examination of the skin lesion with a dermatoscope to better visualize characteristics.
Imaging studies: Ultrasound, MRI (magnetic resonance imaging), or CT (computed tomography) scans may be used to assess the extent and depth of the malformation, especially if deep tissue involvement is suspected.
Biopsy: A skin biopsy may be performed to confirm the diagnosis. Histopathology will reveal the characteristic features of GVMs, including the abnormal clusters of glomus cells.
Genetic testing: Genetic testing for mutations in the GLMN gene can confirm the diagnosis, especially in atypical cases or for genetic counseling purposes.
Timeline of Symptoms
Congenital or early childhood: Lesions are often present at birth or develop shortly thereafter.
Progressive growth: Lesions may slowly increase in size over time.
Pain onset: Pain may develop at any age but often becomes more prominent as the individual ages.
Chronic course: GVMs typically persist throughout life unless treated. Symptoms may fluctuate in intensity, but the underlying malformation remains.
Important Considerations
Pain management: Pain is a significant concern for individuals with GVMs. Effective pain management strategies are essential to improve quality of life.
Psychosocial impact: Visible skin lesions can have a significant impact on self-esteem and social interactions. Support groups or counseling may be beneficial.
Genetic counseling: Genetic counseling is recommended for individuals with GVMs and their families to discuss the risk of inheritance and reproductive options.
Multidisciplinary approach: Management of GVMs often requires a multidisciplinary approach involving dermatologists, vascular surgeons, pain specialists, and geneticists.
Differential diagnosis: GVMs should be differentiated from other vascular malformations, such as hemangiomas, venous malformations, and arteriovenous malformations.
Surgical or interventional treatment: Options such as sclerotherapy, laser therapy, or surgical excision may be considered to reduce pain and/or remove the lesion(s). They can also have risks and may not completely resolve the issue.