Proteus Syndrome

proteus syndromeProteus Syndrome is a rare congenital disease, which is characterized by skin overgrowth and atypical bone growth. It is often accompanied by tumors of individual body parts. The overgrowth is usually asymmetric, it affects left and right sides of the body. The most affected bones are limbs, skull, and spine.

The condition can also cause neurological abnormalities such as intellectual disability, vision loss, and seizures.

The history of the disease name came from Greek mythology, it is believed that god of the sea Proteus possessed the ability to change the shape of his body. Firstly the disorder was described by Drs. Samia Temtamy and John Rogers in 1976. Only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition.

Signs and symptoms

  • overgrowth of skin, bones, muscles, fatty tissues, lymphatic vessels
  • deep vein thrombosis
  • pulmonary embolism
  • arthritis
  • muscle pain

Most affected individuals are born without noticeable symptoms. Some patients can have brain overgrowth apparent at birth. Overgrowth usually begins between 6-18 months. The specific affected areas of the body vary from patient to patient.

Patients often develop malformations of various blood vessels including capillaries, veins, and lymph vessels. Also, some individuals may have blood clots in the legs (deep vein thrombosis). In this case, legs become painful and swollen, and blood vessels may be enlarged. Proteus syndrome can include abnormal enlargement of internal organs such as colon, spleen, thymus and other tissues.

Individuals with proteus syndrome develop some kind of tumors. The most common are bilateral ovarian cystadenomas, gland tumors known as monomorphic adenomas, and meningiomas.

Proteus syndrome may be complicated by kidney abnormalities, cystic lung disease, eye disorders such as crossed eyes, tumors, and cysts of the eyeballs.


Proteus syndrome is caused by a mutation in a growth regulatory gene called AKT1 that occurs after fertilization of the embryo (somatic mutation). It means that those who suffer from proteus syndrome have some cells with a normal copy of AKT1 gene and other cells with the abnormal gene. It is believed that this mutation occurs randomly for no particular reason.


Diagnosis of Proteus syndrome has some difficulty because of the similarity of symptoms with hamartomatous disorders and other tissues abnormalities. However, early diagnosis is very important, because early revealing of the disease increases the chances of a comfortable future life. It is not possible to get rid of the syndrome as well as from any other congenital or hereditary disease.

Genetic diagnosis requires a clinical examination and molecular testing. Also, it includes a biopsy of tissue, because the issue that causes a mutation in AKT1 is often seen in white blood cells which serve for the analysis of the genome.

Other possible methods to diagnose this condition are plain x-rays (radiography), magnetic resonance imaging (MRI) of the brain, abdomen, pelvis and limbs, computed tomography (CT) scans.


Treatment is determined for each patient individually, due to the limited medical capacity and the heterogeneity of the disease conditions.

Proteus syndrome treatment includes:

  • detection of abnormalities at an early stage and using symptomatic and preventive treatment
  • multiple orthopedic procedures to control the overgrowth
  • surgery
  • epiphysiodesis (removal or ablation of growth plates in bones)It is required to carry out laboratory tests on blood clotting before and after the surgical intervention.
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