CLOVES Syndrome Awareness Day 2025: Recognizing and Understanding a Rare Genetic Disorder

Why in News ?

• CLOVES Syndrome Awareness Day is observed every year on 3rd August.
• The day highlights the importance of supporting individuals affected by this rare and complex genetic disorder, promoting early diagnosis, and appropriate treatment.
• Due to limited public awareness, individuals with CLOVES syndrome are often neglected.
• This day plays a crucial role in spreading awareness.

What is CLOVES Syndrome ?

CLOVES is an acronym that represents the major features of the condition:

• C – Congenital Lipomatous Overgrowth (excess fatty tissue present from birth)
• L – Lymphatic/vascular malformations (abnormalities of lymphatic or blood vessels)
• O – Overgrowth (disproportionate growth of certain body parts)
• V – Epidermal nevi (mole-like patches on the skin)
• E – Skeletal/spinal anomalies (abnormalities in bones or spine)

This disorder is present from birth and can affect various parts of the body.

Signs and Symptoms

Symptoms vary from patient to patient, but commonly include:

• Asymmetric fatty overgrowth (lipomatous mass)
• Vascular malformations (such as swelling or discoloration of the skin)
  • Epidermal nevi (wart-like spots on the skin)
  • Scoliosis and other skeletal anomalies
  • In some cases, seizures and developmental delays

How is it Diagnosed ?

Accurate diagnosis involves:

• Clinical evaluation by specialized doctors
  • Imaging tests – such as MRI and ultrasound
  • Genetic testing – to detect mutations in the PIK3CA gene As its symptoms may resemble other overgrowth disorders, evaluation by experts is essential.

Treatment and Management Options

There is no permanent cure, but symptoms can be managed through:

• Surgery – to correct overgrowth or bone deformities
• Sclerotherapy – for vascular anomalies
• Medications – such as Sirolimus (an mTOR inhibitor) to control abnormal tissue growth
  • Physical therapy – to help maintain mobility
  • Multidisciplinary care – involving dermatologists, orthopedists, surgeons, genetic counselors, etc., working together

Why is Awareness Important ?

• To prevent misdiagnosis and treatment delays
• To provide accurate information to healthcare professionals
•  To offer social, psychological, and medical support to patients and their families
• To encourage medical research into better diagnosis and treatments