Cloves Syndrome
What is Cloves Syndrome?
Cloves syndrome is a congenital rare disorder involves vascular malformations, dysregulation in adipose tissue or fatty tissues, abnormal curvature in the spine (scoliosis), the enlarged bony structure of lower extremities bony structures without any progressive deformity associated with bony overgrowth.
Apart from these irregularities, skin problem, malformation of the kidney, like small sized or absence of one kidney. The symptomatic approach and the severity of the disease are not similar for every affected individual and often varies from person to person.
Clove syndrome occurs due to erotic mutation of PIK3CA gene, but the chance of hereditary transition of the disease is insignificant. Because abnormal mutation does not involve egg or sperm cells1,3,4.
Signs & Symptoms
The sign and symptoms depend upon the organ involvement. Soft tissue, skeletal system, blood vessels and internal organs are involved in CLOVES syndrome, but the severity may not be same for every affected individual. The abnormalities are mostly seen at the time of birth. The common abnormalities are as follows:
Fatty Masses
At the time of birth affected baby usually has uneven sized soft fatty masses at the back, buttocks, flanks, abdomen and axilla.
These fatty masses may present on one side or both the sides of the body and covered with a red-pinkish skin, which may misdiagnose as a birthmark. This typical mark is clinically termed as a port-wine stain, which is formed due to the capillary malformation.
Vascular Anomalies
Veins pass from the chest, upper limbs and lower limbs become dilated and that may cause thrombus formation, which leads to the development of pulmonary embolism. In pulmonary embolism, clot travel from the vein to the lungs.
Apart from blood vessels, lymphatic malformations are also common. Lymph is abnormally filled in large spaces in the abdominal cavity and/or chest cavity. Some patients may have severe spinal cord related problem due to development of aggressive arterio-venous malformation.
Abnormality in Extremities
Both arms and legs are abnormal and the characteristic features include hand and/or leg size is larger and wider than normal, finger and toes are also wide and large, the gap between fingers and toes are also wide and dissimilarity of size in both hands or both legs are also common.
Abnormality in Spine
Abnormal curvature of the spine, fixed spine, protruded spine due to the pushing of fatty masses and vessels are also common problems.
Port-wine Stain Mark
Port-wine stain marks, which are considered as skin birthmarks are a common feature of CLOVES syndrome. Apart from this, different types of marks are obtain in the skin due to mole formation, epidermal nevus, which is characterized as slightly raised areas of skin with light brownish color.
Kidney Anomalies
The uneven size of the kidneys are common and that is diagnosed through imaging test. Young children with Clove Syndrome may suffer from Wilms tumor and to diagnose this number of screening tests are performed.
Other Abnormalities
Some patients with CLOVES syndrome may have intestinal hemorrhage, facial asymmetric features, and head size abnormality.
However, there is no standard enlisted symptoms are assigned for Clove Syndrome. The symptoms vary from individual to individual. Therefore, it is necessary to thorough diagnosis to detect CLOVE syndrome1,2,4,5.
Causes
CLOVE syndrome is a resultant of erotic mutation of PIK3CA gene. The nature of mutation is somatic means it involves body cell. The genetic abnormality is not involved hereditary factor.
Abnormal genetic mutation provides two different sets of cells within the body: some are mutated cells and some are non-mutated. Mutated body cells cause the abnormal tissue development1.
Diagnosis
- The symptomatic assessment is the basic diagnostic tool for detection of CLOVE syndrome. Genetic testing for the PIK3CA gene mutation provides confirmatory result. but yet now this test is not readily conducted in every diagnostic center.
- X-ray imaging tests of the upper and lower limb can diagnose the structural deformity
- MRI (magnetic resonance imaging) test is conducted in the chest, limbs, abdomen, spine and pelvis
- Ultrasound test is performed for detection of the vascular incongruity and anomalies in kidneys.
- Imaging diagnosis tool is used to detect prenatal CLOVE Syndrome1,4.
Treatment
The CLOVE Syndrome management is very difficult and cannot be manageable under one expert clinician, because of multiple associated abnormalities. A panel of healthcare experts is worked together to manage the vascular abnormalities and related disorders. The treatment approach is customized and treatment plan depends upon the individual’s symptoms.
Debulking operations
It is usually recommended for correction of overgrown tissue. This surgical intervention helps to reduce the size of the outsized tissue.
Orthopedic measures
These are required for correction of the large limb abnormalities.
Laser treatment, embolization, and sclerotherapy
These are different types of small invasive process applied for correction of malformations of large veins and lymphatic vessels, as direct large surgery can increase the risk of vein thrombosis.
Surgical intervention
It is is also conducted for treating the Tethered cord1,2,3.
Pictures
References
- CLOVES Syndrome; National Organization for Rare Disorder; from https://rarediseases.org/rare-diseases/cloves-syndrome/
- CLOVES syndrome; Genetic and Rare Diseases Information Center; from https://rarediseases.info.nih.gov/diseases/10939/cloves-syndrome
- Zoran S. Gucev, Velibor Tasic, Aleksandra Jancevska, Marina Krstevska Konstantinova, Nada Pop-Jordanova, Zoran Trajkovski, Leslie G. Biesecker; CLOVE Syndrome (Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi): CNS Malformations and Seizures may be a Component of this Disorder; Am J Med Genet A. Author manuscript; available in PMC 2010 Feb 10. from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2819374/
- CLOVES Syndrome; WebMed; from http://www.webmd.com/children/cloves-syndrome
- CLOVES Syndrome in Children; Boston Children’s Hospital; from http://www.childrenshospital.org/conditions-and-treatments/conditions/cloves-syndrome
