Overview

Overview

While all PROS conditions are different, they are connected by the same cause—PIK3CA mutations

Even people with the same PROS condition caused by PIK3CA mutations may experience differences in manifestations, symptoms, and severity. PIK3CA mutations may cause the following PROS conditions:

KTS (Klippel-Trenaunay Syndrome)

  • Features can include vascular malformations, including lymphatic abnormalities, changes to the veins, and port-wine stains. Also affects the development of bones, organs, and soft tissue, like skin and muscles

Find resources and support for people with KTS and related conditions by visiting the K-T Support Group.

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

  • Lipomatous overgrowth often affecting the front and back of the torso, as well as limbs, fingers, and toes
  • Vascular malformations
  • Bone abnormalities, including scoliosis, macrodactyly, and very large arms and legs
  • Many people with CLOVES syndrome experience worsening symptoms over time

Find resources, educational materials, a patient-led research network, and support for people with CLOVES syndrome and their families by visiting the CLOVES Syndrome Community.

ILM (Isolated Lymphatic Malformation)

  • Clusters of abnormal lymphatic vessels. Often, ILM occurs in the neck and face, but it can be anywhere in the body, including the lower half of the body, arm, or torso

Find information and support for people with ILM by visiting the Lymphangiomatosis & Gorham’s Disease Alliance.

MCAP or M-CM (Megalencephaly-Capillary Malformation)

  • Body and head overgrowth and abnormalities of the skin, vascular system, brain, and limbs

Find information, resources, and patient-centered research for people with M-CM and their families by visiting the M-CM Network.

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

  • Overgrowth of the brain or problems with the way a part of the brain, called the cerebrum, develops. This is called HME if it affects only one side of the brain and involves abnormal nerve cells. If it affects both sides of the brain, it is called DMEG. HME and DMEG can be caused by many genes. Focal cortical dysplasia type II is abnormal development and organization of the layers of the brain

HHML (HemiHyperplasia-Multiple Lipomatosis)

  • Moderate overgrowth that affects only one side of the body, most often in the arms or legs, and does not get worse over time. People with HHML also often have slow-growing, painless, fatty masses under the skin throughout the body and may have vascular malformations

FIL (Facial Infiltrating Lipomatosis)

  • Causes overgrowth and large size of one side of the face. It can also include growths on nerves, an oversized portion of the tongue, increased size of bones, and teeth growing in too soon

Find information and support for people with FIL by visiting WonderFIL smiles.

FAVA (FibroAdipose Vascular Anomaly)

  • Condition in which a large part of the muscle in one limb is taken over by tough, fibrous, fatty tissue

Find information and support for people with FAVA by visiting Project FAVA.

Macrodactyly

  • Enlarged fingers or toes

Muscular HH (HemiHyperplasia)

  • Overgrowth of muscle on only one side of the body that usually affects the arms or legs

FAO (FibroAdipose hyperplasia or Overgrowth)

  • Patchy overgrowth of fatty, fibrous tissue (tendons, ligaments), and/or blood vessels

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)

  • The main feature of CLAPO syndrome is a capillary malformation of the lower lip. Lymphatic malformations, which often involve the face and/or neck, can also occur

Epidermal nevus, benign lichenoid keratosis, or seborrheic keratosis

  • Epidermal nevus is skin growth that involves changes in texture and color, which occurs in a linear, but sometimes swirled, pattern. Benign lichenoid keratosis is skin growth that typically occurs as a single, small, rounded or oval, thickened red area on the surface of the skin. Seborrheic keratosis is skin growth that appears as a slightly raised, waxy, scaly skin growth that's usually brown, black, or light tan

Other conditions may be identified and characterized as PROS.
Talk to your doctor to find out if your condition is a PROS condition.

All organizations listed are not-for-profit and/or government agencies, and are independent from Novartis Pharmaceuticals Corporation. Novartis has no financial interest in any organization listed, but may provide occasional funding support to these organizations. All descriptions are copyright of the respective organizations.