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

Patient Images & Condition names Patient Images & Condition names

Patient images from left to right: CLOVES syndrome; M-CM; M-CM; M-CM.

Conditions not listed in above image: CLAPO syndrome; Facial Infiltrating Lipomatosis; FibroAdipose hyperplasia or Overgrowth; FibroAdipose Vascular Anomaly; Macrodactyly; Epidermal nevus, benign lichenoid keratosis, or seborrheic keratosis; Muscular HH.

Patient images from left to right: M-CM; M-CM; CLOVES syndrome.

 

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:

  • Causes vascular malformations, including lymphatic abnormalities, changes to the veins, and reddish discolorations called 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.

  • Fatty growths, called lipomatous overgrowth, often affecting the front and back of the torso, as well as limbs, fingers, and toes

  • Blood vessels growing in abnormal ways (vascular malformations)

  • Bone abnormalities, including a curved spine (scoliosis) and very large fingers or toes (macrodactyly) or legs, arms, hands, and feet

  • 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.

  • Clusters of abnormal blood vessels filled with clear fluid called lymph. 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.

  • 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.

  • 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

  • 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 differences in blood vessels (vascular malformations)

  • 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.

  • 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.

  • Enlarged fingers or toes

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

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

  • 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 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 disorders may be identified and characterized as PROS.

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