What is Cloves Syndrome?
CLOVES Syndrome is an acronym for Congenital, Lipomatous, Overgrowth, Vascular Malformations, Epidermal Nevi, and Spinal/Skeletal Anomalies and/or Scoliosis. Saap et al. and Alomari recognized the syndrome concurrently and separately. CLOVES is caused by a somatic mutation in the PIK3CA gene, which enhances the gene’s activity. CLOVES is a kind of sickness referred to as the PIK3CA-related overgrowth spectrum, or PROS.
Symptoms
CLOVES syndrome is a genetic disorder that affects the body’s tissue, blood vessels, bones, and internal organs. Its signs are often discernible at or shortly after delivery.
Several of the most prevalent symptoms include the following:
- Soft lumps, also known as lipomas, that form beneath the skin are frequently detected on the stomach, back, and sides of CLOVES syndrome patients.
- Vein abnormalities: Veins—a kind of blood artery that returns blood from various places of the body to the heart—may be improperly formed or bigger than usual. This can raise the chance of a blood clot forming.
- CLOVES syndrome may result in a curvature of the spine (scoliosis) or a tethered spinal cord, which occurs when the spinal cord gets abnormally linked to the surrounding tissue.
- Asymmetric physical parts: One side of the face, head, arms, or legs may be noticeably different in shape and size from the other. This comprises huge or broad hands and feet, as well as unique finger and toe spacing.
On the skin, irregularly colored spots, birthmarks, or moles (sometimes termed nevi) are frequently observed. - CLOVES syndrome can result in anomalies of the kidneys, such as one kidney being bigger than the other or having just one kidney.
Issues with the intestines and bladder: Some individuals may develop bleeding from the intestines (a component of the digestive system) or the bladder (which is responsible for collecting and eliminating the body’s urine). - Not everyone with CLOVES syndrome will exhibit all of these symptoms; rather, they will manifest in combination. Additionally, the symptoms of CLOVES syndrome can range from moderate to severe.
Diagnosis
Because CLOVES syndrome symptoms might be mild or prominent, it is necessary to get a diagnosis from a vascular abnormalities expert with experience. CLOVES is still relatively unknown and is so uncommon that ultrasonography is not a guaranteed method of detection. Following birth, a clinical examination must be undertaken. At birth, the diagnosis is made based on physical indications and symptoms. Prenatal diagnosis is possible using imaging technologies.
Typically, clinicians will combine the following steps when diagnosing CLOVES syndrome:
- Assemble a thorough medical and family history
- Conduct a comprehensive physical examination
- Place an order for imaging examinations such as magnetic resonance imaging (MRI), computed tomography (CT) scans, ultrasonography, and x-rays.
Treatment
- CLOVES syndrome is treated by addressing the symptoms that each patient presents with. Treatment entails treating each symptom and enhancing the patient’s quality of life.
- There is no permanent treatment for CLOVES syndrome at the moment. Palliative care is provided to alleviate symptoms and slow the development of disease.
- The earlier CLOVES syndrome is discovered and treated, the better the condition can be managed.
- Management is very personalized for each patient, as symptoms can vary significantly across individuals.
- CLOVES syndrome is often treated and managed by an interdisciplinary team of specialists with experience in overgrowth and vascular abnormalities.
- Embolization and surgical excision of masses are possible treatments options, particularly for individuals with big, deep masses or masses in the spinal area.
- Sclerotherapy may be used to treat pain and vascular and lymphatic problems in adults.
- Orthopedic surgeries are frequently indicated for individuals with severe limb abnormalities.
- Medical treatment with sirolimus produced encouraging outcomes, especially in patients with lymphatic malformations and discomfort. The use of sirolimus and other medicinal therapy in CLOVES syndrome is fast evolving and should be guided by an expert oncologist.
- Patients should have routine orthopedic and neurosurgery examinations to avoid issues associated with overgrowth.
- Early and routine examination of hands and feet abnormalities is critical to ensuring that surgery can be performed promptly if necessary to avoid permanent limb disfigurement or loss of function.
- Individuals diagnosed with CLOVES syndrome should have their bodies checked for tumors and lumps evaluated.
- It is advised that an individual see several specialists every six months till the end of adolescence.
Long term outcome
CLOVES is a rare illness that manifests differently in each kid. Your child’s long-term outlook will be determined by a variety of factors, including the following:
- Age at time of diagnosis (the earlier treatment is started, the better)
- Distinct symptoms
- General well-being
When CLOVES is modest and detected early, many children with the illness do quite well. Your child’s physician will provide you with particular information on the suggested course of treatment and long-term outlook.
