Different conditions, one root cause

Many abnormal growth and vascular malformations, including lymphatic conditions, are caused by PIK3CA mutations, meaning that part of the DNA known as the “PIK3CA gene” is abnormal and isn’t working correctly. Because these disorders share this common gene mutation, they were grouped together under the name PIK3CA-Related Overgrowth Spectrum, or “PROS” for short.

 

You may have been diagnosed recently with one of the following conditions, which may be associated with PIK3CA mutations:

  • KTS (Klippel-Trenaunay Syndrome)

  • CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal)

  • ILM (Isolated Lymphatic Malformation)

  • MCAP or M-CM (Megalencephaly-Capillary Malformation)

  • HME (HemiMegalEncephaly)/DMEG (Dysplastic MEGalencephaly)/Focal cortical dysplasia type II

  • HHML (HemiHyperplasia-Multiple Lipomatosis)

  • FIL (Facial Infiltrating Lipomatosis)

  • FAVA (FibroAdipose Vascular Anomaly)

  • Macrodactyly

  • Muscular HH (HemiHyperplasia)

  • FAO (FibroAdipose hyperplasia or Overgrowth)

  • CLAPO syndrome (Capillary malformation of the lower lip, Lymphatic malformation of the face and neck, Asymmetry of the face and limbs, and Partial or generalized Overgrowth)

  • Epidermal nevus, benign lichenoid keratosis, or seborrheic keratosis

  • Other disorders may be identified and characterized as PROS

Due to the nature of PIK3CA mutations in PROS, a positive mutation status may be difficult to detect. This is because the PIK3CA mutation may not affect all cells in your body. Your doctor may call this mosaicism. To find out more about these conditions, click here

These conditions, which are grouped under the name PROS because all of them are associated with PIK3CA mutations, can look very different from each other in size, shape, and type of growth or malformation. They also may occur in different parts of the body and cause a wide variety of signs and symptoms that can worsen over time. No matter what the symptom, it's important to keep your health care team updated on the status of your condition.

These conditions can include diverse features and can affect each person differently. However, many of them are caused by PIK3CA mutations.

 

Some common features driven by the PIK3CA mutation include:

Macrodactyly

Macrodactyly: the appearance of one or more unusually large fingers or toes

Scoliosis

Scoliosis: a sideways curvature of the spine, which in a PROS condition is caused by an abnormal growth

Abnormal growth

Abnormal growth: when certain parts of the body grow too much or too little. This may occur in muscles, fatty tissue (like a lipoma), organs, and the spine or skeleton. It may also affect the surface of the skin

Vascular malformations

Vascular malformations: when vessels like veins, arteries, and capillaries grow in abnormal ways

Lymphatic malformations

Lymphatic malformations: when vessels that contain clear fluid, called lymph, grow abnormally

Enlarged head

Enlarged head: when brain complications, such as hydrocephalus (fluid in the brain) or seizures, cause overgrowth in the brain that may also result in neurological issues. These conditions are particularly seen in MCAP and HME/DMEG/focal cortical dysplasia type II

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