GeneHealth - Your precision medicine

Cloves Syndrome

Disease Details

Family Health Simplified

Buy Membership

Description: CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Skeletal/Spinal anomalies and/or scoliosis) is a rare disorder characterized by tissue overgrowth and complex vascular anomalies.

One-sentence description: CLOVES syndrome is a rare congenital condition marked by overgrowth of fatty tissue, vascular malformations, skin abnormalities, and skeletal or spinal irregularities.
Type: CLOVES syndrome is a congenital condition, and its genetic transmission is typically sporadic. It is caused by somatic mosaic mutations in the PIK3CA gene. These mutations occur randomly during embryonic development and are not inherited in a traditional sense.
Signs And Symptoms: CLOVES syndrome is a rare congenital disorder characterized by overgrowth and vascular anomalies. The abbreviation CLOVES stands for Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Spinal/skeletal anomalies.

### Signs and Symptoms:

1. **Congenital Lipomatous Overgrowth**: Abnormal fatty tissue growth, usually present at birth and often involving the trunk, abdomen, or extremities.
2. **Vascular Malformations**: This includes various anomalies such as capillary, venous, lymphatic, and arteriovenous malformations.
3. **Epidermal Nevi**: Skin abnormalities, such as birthmarks or patches of thick, raised skin.
4. **Spinal/Skeletal Anomalies**:
- Scoliosis or other spinal deformities.
- Limb asymmetry.
- Foot anomalies like macrodactyly (enlarged fingers or toes).

Additional symptoms may include:
- Organ system involvement due to overgrowth.
- Increased susceptibility to infections in affected areas.
- Potential for complications such as blood clots or bleeding due to vascular malformations.

CLOVES syndrome is diagnosed based on clinical features and imaging studies, and management often requires a multidisciplinary approach.
Prognosis: In CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Scoliosis/Skeletal abnormalities) prognosis can be quite variable and depends on the severity and type of abnormalities present in each individual. While it is a rare and complex disorder often involving multiple organ systems, early diagnosis and proper management by a multidisciplinary team can improve the quality of life and outcomes for affected individuals. However, some cases may involve significant complications that can impact life expectancy and overall health.
Onset: CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies) typically presents at birth or in early infancy. There is currently no known association with a specific onset mechanism related to nanotechnology (nan), as the term "nan" is not contextually relevant to the onset of CLOVES syndrome.
Prevalence: The prevalence of CLOVES syndrome is not well established due to its rarity and the relatively recent identification of the condition. It is considered a very rare disorder.
Epidemiology: CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Skeletal anomalies) is an extremely rare overgrowth disorder. The exact prevalence is not well-documented due to its rarity. It is characterized by a combination of congenital anomalies, often including fatty tissue overgrowth, vascular anomalies, skin abnormalities, and various skeletal deformities. The syndrome is caused by mutations in the PIK3CA gene, which are typically not inherited but occur as somatic mutations.
Intractability: Cloves syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Scoliosis abnormalities) is a complex and rare disorder that can be challenging to treat due to its diverse and severe manifestations. While some symptoms and complications can be managed or alleviated through surgical interventions, medications, and other treatments, there is currently no cure for the disease. The intractability of the syndrome varies from patient to patient, heavily depending on the severity and specific manifestations of the condition.
Disease Severity: CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Skeletal/spinal anomalies) is a rare and complex disorder involving various body systems. The severity of the disease can vary widely among individuals, depending on the extent and location of the anomalies.

- **Moderate Cases:** May include localized lipomatous overgrowth and minor vascular anomalies, requiring minimal intervention.
- **Severe Cases:** Can involve extensive and multiple organ system impairments, significant vascular malformations, and noticeable skeletal abnormalities, necessitating comprehensive medical management and potentially multiple surgeries.

Overall, the severity of CLOVES syndrome is considered significant due to its potential impact on multiple aspects of health and quality of life.
Healthcare Professionals: Disease Ontology ID - DOID:0080351
Pathophysiology: CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Skeletal/spinal anomalies) is a rare congenital disorder.

**Pathophysiology:**
CLOVES syndrome is primarily caused by somatic mutations in the PIK3CA gene. These mutations lead to abnormal activation of the PI3K-AKT-mTOR signaling pathway, which regulates cell growth and proliferation. As a result, affected individuals present with tissue overgrowth, vascular anomalies, lipid overgrowths, epidermal nevi, and various skeletal abnormalities. The syndrome involves a diverse range of symptoms due to the mosaic nature of the genetic mutation, meaning different cells in the body can be affected to different extents.

**Nan:**
This section appears incomplete as "nan" is not a recognized medical term or abbreviation in the context of diseases and their pathophysiology. If you meant to ask about a different aspect or had a typographical error, please provide more details.
Carrier Status: CLOVES syndrome, which stands for Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Scoliosis abnormalities, is not typically associated with a carrier status in the traditional genetic sense as it is caused by somatic mutations in the PIK3CA gene. These mutations occur post-conception and are not inherited from a parent nor passed on to offspring.
Mechanism: CLOVES syndrome, which stands for Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Scoliosis/Syndrome, is a complex genetic disorder. The primary molecular mechanism underlying CLOVES syndrome involves mutations in the PIK3CA gene. These mutations lead to the activation of the PI3K/AKT/mTOR signaling pathway, which is crucial for cell growth, proliferation, and survival. The overactivation of this pathway results in abnormal cell growth and proliferation, manifesting in the various symptoms of CLOVES syndrome, such as overgrowth of fatty tissue, vascular anomalies, and skeletal abnormalities.
Treatment: As of now, there is no cure for CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Spinal/skeletal anomalies). Treatment focuses on managing symptoms and may include:

1. **Surgical Interventions**: To manage overgrowth and vascular malformations.
2. **Sclerotherapy**: To shrink abnormal blood vessels.
3. **Medications**: Targeted therapies such as mTOR inhibitors (e.g., sirolimus) to manage overgrowth.
4. **Physical Therapy**: To maintain mobility and function.
5. **Regular Monitoring**: To check for complications like organ involvement or malignancies.
Compassionate Use Treatment: CLOVE Syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, and Epidermal nevi) is a rare congenital disorder. Treatment options, especially off-label or experimental, are still being explored due to the rarity and complexity of the condition. Here's an overview:

1. **Sirolimus (Rapamycin)**: Often used off-label, this mTOR inhibitor can help manage the vascular anomalies associated with CLOVE Syndrome by reducing the size and progression of vascular tumors and malformations.

2. **Alpelisib (BYL719)**: This PI3K alpha-specific inhibitor has shown promise in experimental treatments due to its targeted action on the PIK3CA gene mutations often implicated in CLOVE Syndrome. Clinical trials are ongoing to assess its efficacy and safety.

3. **Cobb Syndrome** (specifically embolization or surgical interventions): Depending on the specific vascular anomalies, interventional radiology techniques like embolization or surgeries to manage debulked overgrowths might be considered.

Compassionate use treatments are typically dependent on individual cases and the patient's treatment history, as well as emerging research. Coordination with a multidisciplinary team and enrollment in clinical trials might provide access to newer therapies under investigation. Close consultation with healthcare providers specializing in genetic or vascular disorders is essential for managing CLOVE Syndrome.
Lifestyle Recommendations: Cloves Syndrome is a rare overgrowth disorder characterized by Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/spinal anomalies. Here are some general lifestyle recommendations for managing Cloves Syndrome:

1. **Regular Medical Checkups**: Frequent consultations with a multidisciplinary team of specialists, such as dermatologists, orthopedists, and vascular specialists, to monitor and manage symptoms.

2. **Physical Therapy**: Engage in regular physiotherapy to maintain mobility and strength, especially if there are skeletal abnormalities.

3. **Healthy Diet**: Maintain a balanced diet to support overall health and manage weight, which can help minimize strain on the body.

4. **Avoidance of Trauma**: Protect affected areas of the body from trauma to prevent complications like bleeding or infection.

5. **Skin Care**: Proper skin care routines, as individuals may be prone to infections or other skin issues due to epidermal nevi.

6. **Compression Garments**: Use of compression garments may help in managing vascular anomalies and improving comfort.

7. **Pain Management**: Follow prescribed pain management strategies, which could include medications, physical therapy, or alternative therapies like acupuncture.

8. **Mental Health Support**: Engage with mental health professionals for coping strategies and support, as living with a chronic condition can be challenging.

Always consult with healthcare professionals before making changes to your lifestyle or treatment plan.
Medication: CLOVE syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, and Epidermal nevi) is a rare disorder. There is no specific medication for CLOVE syndrome itself, but treatment is often symptom-based and may involve a multidisciplinary approach, including:

1. Surgical procedures: To manage overgrowths, vascular malformations, or other physical deformities.
2. Sclerotherapy or embolization: To treat vascular malformations.
3. Pain management: Medications like NSAIDs or other pain relievers to manage discomfort.
4. Physical therapy: To improve mobility and function.

Please consult with a healthcare professional for a personalized treatment plan.
Repurposable Drugs: As of my latest information, there is no specific drug repurposing information available for CLOVES syndrome. CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/Skeletal anomalies) is a rare overgrowth disorder primarily managed through symptom-based treatments and surgical interventions. Research is ongoing to better understand and treat this complex condition. For the most current and specific information, consulting clinical studies or medical professionals is recommended.
Metabolites: For CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi), specific metabolite profiles have not been broadly characterized or reported as central to the condition. CLOVES syndrome is primarily associated with genetic mutations in the PIK3CA gene, which lead to overgrowth and vascular anomalies. Metabolic aspects are not a central focus in the current understanding of the disease. If you need more detailed or specific information regarding metabolic studies or biomarkers related to CLOVES, it may be helpful to consult recent research articles or clinical reviews on the topic.
Nutraceuticals: Cloves syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Scoliosis/Skeletal/Spinal anomalies) is a rare disorder characterized by overgrowth and vascular anomalies. Nutraceuticals have not been formally established as a treatment for Cloves syndrome. Treatment usually involves managing the symptoms through surgical procedures or targeted therapies to address specific anomalies. Always consult healthcare providers for personalized medical advice.
Peptides: CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Scoliosis/Skeletal/Spinal anomalies) is caused by somatic mutations in the PIK3CA gene. The progression of this disease is associated with abnormal cell growth and development due to the activation of the PI3K-AKT-mTOR pathway. Peptides or nano-based therapies specifically tailored for CLOVES syndrome are still under research and not yet commonly available, but advancements in targeted treatments, such as PI3K inhibitors, show potential.