CLOVES syndrome

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CLOVES syndrome
PI3K pathway
Synonyms Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, and Skeletal/spinal anomalies and/or scoliosis
Pronounce
Specialty Medical genetics
Symptoms Overgrowth, vascular malformations, epidermal nevi, scoliosis
Complications N/A
Onset Congenital
Duration Lifelong
Types N/A
Causes Genetic mutation in the PIK3CA gene
Risks
Diagnosis Clinical diagnosis, genetic testing
Differential diagnosis Proteus syndrome, Klippel-Trenaunay syndrome
Prevention None
Treatment Symptomatic treatment, surgery
Medication
Prognosis Variable, depends on severity
Frequency Rare
Deaths


Introduction[edit | edit source]

CLOVES syndrome is a rare congenital disorder characterized by a combination of vascular anomalies, overgrowth, and other distinctive features. The acronym CLOVES stands for Congenital, Lipomatous, Overgrowth, Vascular malformations, Epidermal nevi, and Skeletal/spinal anomalies. This condition is caused by mutations in the PIK3CA gene, which plays a crucial role in cell growth and division.

Etiology[edit | edit source]

CLOVES syndrome is caused by somatic mutations in the PIK3CA gene. These mutations lead to the activation of the PI3K-AKT-mTOR pathway, which results in abnormal cell growth and proliferation. The PIK3CA gene is part of the phosphoinositide 3-kinase (PI3K) family, which is involved in various cellular functions, including metabolism, growth, and survival.

Diagram of the PI3K pathway, which is implicated in CLOVES syndrome.

Clinical Features[edit | edit source]

Patients with CLOVES syndrome present with a wide range of clinical features, which can vary significantly in severity. Common manifestations include:

Diagnosis[edit | edit source]

The diagnosis of CLOVES syndrome is primarily clinical, based on the presence of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the PIK3CA gene. Imaging studies, such as MRI and CT scans, are often used to assess the extent of vascular malformations and overgrowth.

Management[edit | edit source]

Management of CLOVES syndrome is multidisciplinary and tailored to the individual patient's needs. It may include:

  • Surgical intervention to address overgrowth and vascular malformations.
  • Sclerotherapy for vascular anomalies.
  • Orthopedic management for skeletal deformities.
  • Regular monitoring and supportive care.

Prognosis[edit | edit source]

The prognosis for individuals with CLOVES syndrome varies depending on the severity of the condition and the presence of complications. Early diagnosis and appropriate management can improve outcomes and quality of life.

See also[edit | edit source]

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Contributors: Prab R. Tumpati, MD