CLOVE syndrome

= CLOVE Syndrome = CLOVE syndrome is a rare, non-hereditary disorder characterized by congenital lipomatous overgrowth, vascular malformations, epidermal nevi, and skeletal or spinal anomalies. It is a complex condition that presents with a wide range of symptoms and severity, making diagnosis and management challenging.

Overview

CLOVE syndrome is an acronym that stands for:

• Congenital
• Lipomatous
• Overgrowth
• Vascular malformations
• Epidermal nevi

The syndrome is part of a group of disorders known as overgrowth syndromes, which are characterized by abnormal growth of body tissues. CLOVE syndrome is often confused with other similar conditions, such as Proteus syndrome and Klippel-Trenaunay syndrome.

Etiology

CLOVE syndrome is caused by somatic mutations in the PIK3CA gene. These mutations occur after fertilization, which means they are not inherited from the parents. The PIK3CA gene is involved in cell growth and division, and mutations can lead to the abnormal growth patterns seen in CLOVE syndrome.

Clinical Features

The clinical presentation of CLOVE syndrome can vary widely among individuals. Common features include:

• Lipomatous Overgrowth: Patients often have asymmetric overgrowth of fatty tissue, which can occur in various parts of the body.
• Vascular Malformations: These can include capillary, venous, and lymphatic malformations, leading to complications such as bleeding or clotting.
• Epidermal Nevi: These are skin lesions that can appear as raised, wart-like growths.
• Skeletal Anomalies: Patients may have scoliosis, limb length discrepancies, or other bone abnormalities.

Diagnosis

Diagnosis of CLOVE syndrome is primarily clinical, based on the presence of characteristic features. Genetic testing can confirm the diagnosis by identifying mutations in the PIK3CA gene. Differential diagnosis includes distinguishing CLOVE syndrome from other overgrowth syndromes such as Proteus syndrome and Klippel-Trenaunay syndrome.

Management

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

• Surgical Interventions: To address overgrowths, vascular malformations, or skeletal anomalies.
• Medical Therapy: Use of medications to manage symptoms or complications, such as sirolimus for vascular anomalies.
• Physical Therapy: To improve mobility and function.

Prognosis

The prognosis for individuals with CLOVE syndrome varies depending on the severity of the symptoms and the presence of complications. Early diagnosis and intervention can improve outcomes and quality of life.

Research and Future Directions

Research into the genetic and molecular basis of CLOVE syndrome is ongoing, with the aim of developing targeted therapies. Advances in genetic testing and personalized medicine hold promise for improving the management of this complex condition.

See Also

• Proteus syndrome
• Klippel-Trenaunay syndrome
• Overgrowth syndromes
• Mirzaa, G. M., et al. "PIK3CA-related overgrowth spectrum (PROS): Diagnostic and testing criteria, differential diagnosis, and evaluation." American Journal of Medical Genetics Part A 167.2 (2015): 287-295.
• Keppler-Noreuil, K. M., et al. "Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum." American Journal of Medical Genetics Part A 167.2 (2015): 287-295.

NIH genetic and rare disease info

• NIH info on CLOVE syndrome

CLOVE syndrome is a rare disease.