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Proteus syndrome, or partial gigantism.
Medical expert of the article
Last reviewed: 04.07.2025

A rare disease, Proteus syndrome, is a genetic multisystem pathology with pronounced clinical manifestations, namely: selective gigantism, damage to the blood and lymphatic systems.
The first mention of the syndrome was made by Michael Cohen in 1979. Four years later, in Germany, the pathology received its current name – Proteus syndrome, after the ancient Greek deity Proteus the Many-Faced.
Proteus syndrome is often misdiagnosed as a hamartomatous disease in the form of neurofibromatosis, which is transmitted in an autosomal dominant manner.
Other names for Proteus syndrome include: Proteus syndrome, elephant man disease, partial gigantism syndrome.
Causes Proteus syndrome
The cause of Proteus syndrome is a certain gene mutation. We all know that the human body has a large number of DNA chains that are passed on to us from our parents. But sometimes during embryonic development, a certain genetic failure occurs, which leads to the appearance of congenital genetic diseases.
Proteus syndrome is detected when the AKT gene is altered: this protein is responsible for the rate of cell growth in the body. If a person is healthy, then their AKT gene is inactive. In patients with Proteus syndrome, this gene is active and accelerates the process of cell growth.
The severity of the pathology depends on the stage of the pregnancy at which the gene mutation occurred. The earlier this stage was, the more severe the Proteus syndrome will be.
At the moment, scientists are working on the following questions:
- How can a mutation of one gene affect the growth rate of completely different human tissues?
- What does selective tissue growth depend on? Why do some patients experience hypertrophy of the skin, while others experience hypertrophy of the bones and/or blood vessels?
Risk factors
The exact factors that influence the development of Proteus syndrome are unknown. However, scientists have identified a number of factors that could theoretically contribute to the development of such a pathology in a child:
- unplanned conception;
- lack of medical supervision of pregnancy;
- viral diseases in pregnant women;
- use of prohibited drugs during pregnancy, as well as chronic and acute intoxication;
- smoking and drinking alcohol during pregnancy;
- addiction;
- insufficient intake of vitamins and other essential substances in the pregnant woman’s body;
- poor ecology, radiation, occupational hazards.
Pathogenesis
The pathogenesis of Proteus syndrome has not yet been fully studied. It is only known that the development of the pathology is caused by mosaicism of somatic cells - an anomaly in the combination of sex chromosomes according to a dominant gene, which has not yet been identified.
However, this theory is also questioned by some scientists, as there have been isolated cases of minor signs of the disease in the parents of affected individuals.
The coexistence of hyper and hypoplasia in Proteus syndrome suggests a possible embryonic somatic recombination that results in the appearance of at least three cellular subtypes: normal, hypertrophic, and atrophic cellular structures.
Symptoms Proteus syndrome
Usually, people with Proteus syndrome are no different from other children in infancy: pathological changes begin to manifest over the years. It is very difficult to diagnose Proteus syndrome at first, since the first signs of the disease may differ in each patient. The only characteristic sign of the disease is tissue proliferation. Any tissue of the human body can proliferation: bone, muscle, fat tissue, as well as blood vessels and lymphatic vessels. The proliferation can affect almost any organ. However, a larger percentage of proliferation of tissue is recorded on the limbs and in the head area.
Proteus syndrome directly affects the reduction of the patient's life expectancy, and this is explained by frequent problems with blood vessels. Among such problems, thromboembolism, thrombosis, etc. are usually encountered. Tumor processes and endocrine system lesions are no less common.
The syndrome itself does not affect the decrease in the patient’s intellectual level, but the pathological proliferation of nervous tissue can provoke a significant delay in mental development.
The first signs of the syndrome may appear in children starting from 2 or 4 years of age. These are usually the following symptoms:
- increase in the size of one of the limbs;
- increase in the size of individual bones;
- local compaction and thickening of areas of the skin - for example, in the area of the face, palms, feet;
- development of tumor processes.
Complications and consequences
- Hypertrophic asymmetry of the arms, legs and fingers, hemihyperplasia, megalospondylodysplasia.
- Curvature of the spine.
- Enlargement of the tongue, pathological proliferation of unchanged bone tissue of the skull (hyperostosis), microcephaly.
- Vascular defects, lipomas and nevi (connective tissue, epidermal).
- Local invasive defects of adipose tissue or vessels.
- Cystic formations in the lungs.
- Formation of blood clots within deep vessels, pulmonary thromboembolism.
- Cystic formations in the appendages, benign tumors of the parotid salivary glands, some types of oncology.
- Strabismus.
- Defects of the dental row.
- Intellectual disability, problems with academic performance.
Diagnostics Proteus syndrome
It is almost impossible to diagnose Proteus syndrome at an early stage, since the main diagnostic criteria are the characteristic symptoms of the disease:
- tissue proliferation;
- disproportionate hypertrophy of the limbs;
- enlargement of organs or body parts;
- curvature of the spine due to disproportionate development of the vertebrae;
- cystic anomalies;
- lipomas, defects of the circulatory and lymphatic systems.
There are no tests to confirm the diagnosis of Proteus syndrome. Blood clotting indicators are monitored, as the disease is characterized by thrombosis and thromboembolism.
Instrumental diagnostics may include X-ray examination, magnetic resonance imaging, computed tomography, angiography, encephalography, etc.
- X-rays can be used to assess the condition of a curved spine, as well as changes in the bone tissue of the limbs or fingers.
- Tomographic research methods help to assess the condition of the cranial cavity, identify defects in brain development, detect vascular anomalies, tumors, cysts, etc.
- Encephalography is prescribed in the presence of seizures to determine their cause.
- Angiography and Dopplerography allow us to determine the presence of thrombosis and embolism of deep vessels.
Sometimes, in the case of Proteus syndrome, especially in the presence of tumor processes, doctors prescribe a histological examination with a preliminary biopsy.
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Differential diagnosis
Differential diagnosis of Proteus syndrome is carried out with the following diseases:
- with Klippel-Trenaunay-Weber syndrome;
- with neurofibromatosis;
- with encephalocraniolipomatosis;
- with lipomatosis-hemihyperplasia syndrome.
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Treatment Proteus syndrome
Proteus syndrome is considered an incurable disease. However, early diagnosis of the disease allows to successfully overcome the main signs of pathology and avoid complications. For example, in case of curvature of the spine, excessive growth of bone tissue, or limb length discrepancy, the patient is offered to use special orthopedic devices.
If the disorder is observed in the hematopoietic system, or the growth of tumor processes is detected, then the patient with Proteus syndrome should be under lifelong medical supervision.
Drug treatment of Proteus syndrome consists only of prescribing symptomatic drugs. These include painkillers (Ibuprofen, Ketolong), diuretics (Furosemide, Lasix), anticoagulants (Heparin, Fragmin, Fondaparinux, Tinzaparin), vasopressors (Dopamine, Dobutamine), thrombolytics (Urokinase, Streptokinase, Alteplase).
Medicines approved for use in Proteus syndrome
Method of administration and dosage |
Side effects |
Special instructions |
|
Ibuprofen |
For pain, take 600 mg 2-3 times a day. |
Taking the drug may be accompanied by nausea, dyspepsia, and stomach pain. |
Ibuprofen is not used in cases of hematopoietic dysfunction. |
Lasix |
For edema, take 20-80 mg per day, with a possible further increase in dosage. |
Possible decrease in blood pressure, weakness, headaches, thirst, allergies. |
Taking the drug should be combined with compensation for electrolyte disturbances. |
Tinzaparin |
It is used as an anticoagulant according to individual treatment regimens. |
With long-term treatment, hemorrhagic complications may develop. |
The drug is used with constant monitoring of the degree of blood clotting. |
Dobutamine |
The drug is used according to individually selected regimens. |
Long-term treatment may cause arrhythmia and changes in blood pressure. |
When treating with the drug, it is necessary to monitor heart rate, blood pressure, and diuresis. |
Streptokinase |
The drug is administered intravenously by drip, at an average dosage of 250,000 IU in 50 ml of saline solution at a rate of 30 drops/min. |
A hyperreaction to protein is possible: headache, nausea, fever. |
Treatment is carried out with monitoring of blood clotting parameters and fibrinogen levels. |
Vitamins
The diet of a person suffering from Proteus syndrome should include fortified and balanced dishes. In addition, additional vitamins can be taken periodically - mainly to strengthen blood vessels, the heart, to improve the condition and structure of cells and tissues.
- Riboxin - has a beneficial effect on metabolic processes and liver function
- Asparkam – prevents problems with the cardiovascular system.
- Doppelherz contains potassium, which is essential for a sick organism, and beneficial Omega-3 acids.
- Sophora is a drug for preventing vascular and heart diseases.
- Ascorutin is a drug for maintaining the normal condition of the vascular wall and for preventing thrombus formation.
Vitamin preparations are usually prescribed individually, since some patients may be intolerant to one or another component.
Physiotherapy treatment
Physiotherapy for Proteus syndrome is usually aimed at maintaining the function of the cardiovascular system, improving coronary and peripheral circulation. With improved blood circulation, the level of oxygen transport increases, the processes in the central nervous system and the autonomic nervous system are facilitated, neuroendocrine and immune reactions are normalized.
Various physical therapy methods can be used to improve the condition of a patient with Proteus syndrome, depending on the predominant manifestation of the disease.
Contraindications to physiotherapy may include:
- unstable angina;
- severe circulatory failure;
- severe heart rhythm disturbances;
- aneurysm;
- febrile conditions;
- oncology and suspicion of similar processes;
- thromboembolism;
- heart attack-pneumonia.
The choice of a specific procedure for Proteus syndrome depends on the severity of the functional disorder of the cardiovascular system, the state of the nervous and neurohumoral systems regulating blood circulation, as well as the presence of other problems in the body.
Folk remedies
To improve the quality of blood in Proteus syndrome, it is recommended to regularly drink drinks made from viburnum berries, sea buckthorn, cranberries, and blueberries.
For the prevention of thrombus formation in Proteus syndrome, teas and infusions based on coltsfoot, meadowsweet, astragalus, comfrey, and raspberry leaves are considered useful. Brew 1 tbsp. of herbs in ½ l of boiling water, leave under the lid until cool. Drink half a glass of this medicine three times a day.
The famous ginger tea is extremely beneficial: it thins the blood and improves circulation, prevents the accumulation of toxins. To prepare medicinal ginger tea, grate a piece of ginger root and pour boiling water over it, leave for 20 minutes. After cooling, add a little honey and/or lemon to the drink. To improve lymph flow, you can add a pinch of cinnamon to this tea.
If swelling has formed in the affected tissues, then use the following method: apply a tomato cut into slices to the affected areas: after 3-4 hours, replace the slices with fresh ones.
An example of treatment of Proteus syndrome with mumiyo:
- dissolve 8 g of mumiyo in 500 ml of boiled water;
- Drink 1 tbsp in the morning on an empty stomach for 10 days.
The course of treatment can be repeated after 5 days. A total of 4 courses are recommended.
The affected areas can be treated with an ointment, which is a 20% diluted mumiyo mixed with petroleum jelly.
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Herbal treatment
- Ginseng rhizome is taken orally before meals - 20 drops of tincture in alcohol three times a day, or in tablets of 0.15-0.3 g three times a day. Duration of administration is ½-1 month.
- Prepare a mixture of 20 g of buckthorn bark, 80 g of birch leaves, 100 g of willow bark. Prepare an infusion of 1 tbsp of the resulting mixture and 250 ml of boiling water. Drink 2 glasses of the medicine daily.
- Take 20 drops of garlic tincture up to 3 times a day, or 25 drops of onion tincture three times a day for a month.
- For edema, herbal teas are prepared based on birch leaves, horsetail grass, parsley rhizome, juniper berries, dandelion rhizome, and rose hips.
Homeopathy
Today, many medical specialists have recognized the effectiveness of homeopathic medicines in the treatment of various diseases, including chronic ones. There are also homeopathic remedies that can help, if not cure, then significantly reduce the symptoms of such a disease as Proteus syndrome.
For example, Lymphomyosot is a complex homeopathic drug made in Germany that performs several useful functions in the body at once:
- removes toxic substances, tissue breakdown products and metabolism;
- stops pathological tissue growth;
- prevents the formation of edema.
Lymphomyosot can be purchased at pharmacies in the form of drops, tablets or injection solution. The drug is recommended for use as prescribed by a doctor three times a day (tablets or drops), or 1-3 times a week (intramuscular or subcutaneous injections). The course of treatment with Lymphomyosot can last a long time, up to several months if necessary.
In order to enhance the effectiveness of the drug, it can be combined with other homeopathic remedies. The most commonly used drugs are: conium, thuja, calcium fluoricum. Less often and according to indications - solanum tuberosum, succinum, apis and tropaeolum.
In addition, over the past decade, potentiated chalon agents (drugs that regulate mitotic cell division), epidermal growth factor (EGF) agents, and fibroblast growth factor (FGF) agents have been actively used.
The listed drugs are virtually free of unpleasant side effects, but can significantly improve the condition of patients with Proteus syndrome.
Surgical treatment
Some types of tissue growths in Proteus syndrome require surgical correction. For example, in case of jaw deformations the following are given:
- surgical orthodontic correction of bite;
- building up individual teeth, forming a correct row of teeth;
- maxillofacial interventions, etc.
In the presence of skin and subcutaneous growths, superficial hemangiomas, their laser removal or cryodestruction can be used. Cystic formations and tumors (including internal ones) are removed surgically.
- Surgery may be required in cases of progressive curvature of the spine, excessive lengthening of the fingers, etc.
- Surgical intervention is justified in the presence of growths that interfere with normal breathing, vision, hearing, as well as those that are located in the area of vital organs.
- Growths that tend to grow rapidly are always removed.
Some surgeries for Proteus syndrome are performed for aesthetic reasons – for example, if tissue growth is found in the face or head area.
Prevention
Scientists have formulated the so-called "10 commandments" for women to prevent birth defects in their future children, including the prevention of Proteus syndrome. These "commandments" consist of the following recommendations:
- A woman who is of reproductive age, sexually active and not using contraception should be prepared for the fact that she can become pregnant at any time.
- Pregnancy should always be planned wisely, and it is advisable to do this before the age of 30-35.
- Throughout the entire period of gestation, it is necessary to visit a doctor and monitor the course of pregnancy and the condition of the fetus.
- Before pregnancy, it is advisable to get vaccinated against rubella. During pregnancy, you should avoid contact with people suffering from viral diseases - do not visit public places during epidemics, wash your hands with soap upon returning from the street, etc.
- It is strictly forbidden to take any medications during pregnancy without a doctor's permission.
- You must not drink alcohol, smoke or take drugs.
- Continuing with the previous point: smoking areas and rooms should be avoided.
- It is necessary to eat a high-quality and balanced diet, and consume a sufficient amount of plant foods.
- If possible, you should get enough rest during pregnancy and not overload your body with physical labor.
- If you have any doubts or suspicions, you should consult a doctor.
Forecast
All sorts of complications – for example, abnormal function of the central nervous system, rapidly increasing curvature of the spine, thrombosis, damage to internal organs – can negatively affect the quality and duration of life of patients diagnosed with Proteus syndrome.
The earlier this diagnosis is made, the more chances the patient has to avoid many complications. And timely preventive and therapeutic measures can positively affect the quality of life and increase its duration.
In general, Proteus syndrome in patients who do not require surgical treatment does not prevent them from leading a relatively active lifestyle.
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