Proteus syndrome
Proteus syndrome
Today Proteus syndrome is considered a very rare genetic disease that is accompanied by an unnatural growth of bones, muscles and connective tissues. It is often accompanied by tumors of individual body parts. Unfortunately, diagnosis and treatment of such disease is very difficult and not always a possible process. Modern medicine knows only that Proteus syndrome is a hereditary disease and is associated with a mutation of genes. However, the mechanism of occurrence of such changes is not yet fully understood. This disease was first described in 1979. It was that time when Michael Cohen found about 200 cases of this syndrome worldwide. It was this scientist, who gave the name of the disease. Proteus is a sea god in Greek mythology. And, according to ancient myths, this deity could change the shape and size of his own body. A widely known person who suffered from such disease is the Elephant man, Joseph Merrick. (Biesecker LG et al. 1999)
Symptoms
In fact, the disease may be accompanied by various changes and disturbances. As a rule, sick children are born completely normal and just over the years they start to change. Interestingly, in each individual case, the symptoms can be different. A genetic disorder of some patients is determined by chance, since there are no external signs. Others patients, on the contrary, almost all my life suffer from discomfort.
The main manifestation of Proteus syndrome is an overgrowth of a body part. This feature appears from the birth, while others may occur over time. As already mentioned, Proteus syndrome is accompanied by the growth of tissues - it might be muscle, bone, skin, lymphatic and blood vessels, adipose tissue. Growths can appear almost anywhere. For example, often there is an increase in the size of the head and limbs, a change of their normal form. It is worth mentioning that the life expectancy of such people decreases, it ranges from 3 to 40 years. The death comes often from malignant tumors. Such people are more prone to problems with the circulatory system (embolism, deep vein thrombosis), and also to oncological diseases and lesions of glands. Proteus syndrome itself does not cause a developmental delay, but as a result of intensive tissue overgrowth the secondary lesions of the nervous system are possible. (Biesecker LG et al. 1999)
With the years Proteus syndrome may lead to an overgrowth of tumors. The average life expectancy of these patients is reduced because of increasing the frequency of deep vein thrombosis and pulmonary embolism, which can get complications from diseases associated with the vascular malformations. Due to the increasing weight of the deformed limbs, muscle and joint pains may appear. Other complications can occur due to an excessive growth of tissue mass - as in the case of Joseph Merrick, who suffocated in the dream when the vertebrae of his cervical spine buckled under the weight of the head.
The disease itself does not cause mental retardation. Tissue growth can result in a secondary damage of the nervous system, which in turn leads to the cognitive impairments. Sufferers are at increased risk of developing certain types of cancer, tumors, meningioma and an adenoma of the salivary glands. (Understanding Overgrowth in Proteus Syndrome, 2010)
Causes of Proteus syndrome
The cause of the disease is a mosaicism of somatic cells by a dominant lethal gene, which has not yet been identified. Because hyperplasia and hypoplasia often occur together, another possible explanation for this postembryonic event is an embryonic somatic recombination, which leads to formation of at least three subtypes of cells - normal, hypertrophic and atrophic cells. (Understanding Overgrowth in Proteus Syndrome, 2010)
The treatment of Proteus syndrome
For the beginning it is worth noting that early diagnosis is very important. The earlier the disease is defined the more chances the child will have for a more comfortable life. Like all hereditary and congenital diseases, this problem has no single solution - getting rid of the syndrome is not possible. But the methods of modern medicine are able to help combat the main symptoms. For example, while the outgrowth of bone tissue, scoliosis and different length of extremities; it is possible to wear special orthopedic appliances which help deal with the problem. If the disease is associated with dysfunction of the circulatory system or tumors, the patient should remain under the constant medical supervision. Quite often the surgical methods of treatment are used. For example, by means of operations the doctors can correct malocclusion, shorten the bones of the fingers, that the person could use both hands. Sometimes the correction of the bone and connective tissue of the chest is necessary, in order to relieve the patient from breathing and swallowing problems. In any case, this disease requires constant attention and treatment. It is the only way to prolong life and improve its quality. (Rosalind B. Dietrich, 1998)
Let’s examine the treatment of this disease in details. The treatment includes an early detection of serious medical problems and symptomatic and prophylactic treatment.
Gemigiperplaziya:
- Medical treatment approaches are rather limited and must be determined in each individual case;
- Unequal length of the legs can lead to further complications and should be corrected by an experienced orthopedist;
- Increased fingers can cause problems for the patient in everyday life: while writing, taking objects, eating, dressing and selection of comfortable shoes.
Hemifacial macrosomia and macroglossia:
- May contribute to the formation of malocclusion;
- The buildup of teeth, maxillofacial surgery and constant observation of the orthodontist are assigned.
Scoliosis: early establishment of the diagnosis prevents the complications and progression of symptoms.
Cutaneous and subcutaneous anomalies: require constant supervision as lipomas and vascular anomalies can cause not only to local, but also to the systemic damages.
Cutaneous vascular spots and anomalies: the laser treatment is possible for removing the cutaneous vascular spots and other anomalies such as dark stains of cherry color and capillary hemangiomas. Removing stains of "the color of coffee with milk" and melanin-related hyperpigmentation is temporary because it is inefficient.
Thrombosis: a comprehensive treatment is prescribed to patients with an acute pain in the hands and legs, with visible welts, shortness of breath or breathing difficulties.
Internal damages: magnetic resonance imaging of the chest and abdominal cavity help to establish internal injuries, such as lipomas or the pulmonary cysts. (Dr Maxime St-Amant et al.)
A drug treatment is not an essential component of Proteus syndrome’s standard treatment.
A surgical treatment:
Before and after surgical intervention, for patients with Proteus syndrome is necessary to conduct laboratory tests of blood clotting. A progressive scoliosis may require an orthopedic treatment. Sometimes patients may need shortening excessively long fingers to wear shoes and use their hands. If a patient with hemifacial macrosomia or macroglossia has trouble breathing, feeding or malocclusion, surgical intervention is necessary with the participation of maxillofacial surgeon, orthodontist and dentist.
Although any experienced surgeon can remove large and dangerous dermal and hypodermic spots, the consultation of a plastic surgeon is necessary during an operation at the face of the patient. Subcutaneous lesions that are on the vitally important organs, or those that are increasing rapidly, require immediate intervention. If required the internal lipomas and cysts of the lungs are removed surgically. (Dr Maxime St-Amant et al.)
About 120 people throughout the earth suffer from this disease. Imagine how their life develops. Anomalies of the body caused by gene changes do not allow these people to move freely and communicate normally, even sleeping is sometimes simply impossible. One of the patients is Mandy Sellars. A woman lives in the UK. She is now 35 years old. The painful changes are reflected mainly on her legs. The legs of Mandy are 3 times longer than her body, shins are 88 cm in girth each and feet - 40 cm long. The left leg of British woman is longer than the right one by 13 centimeters; the foot is strongly deformed and pulled down by 180 degrees. The total weight of the woman is 127 kilograms, 95 of which is the weight of her legs. To the small, even fragile body of this woman are fastened the legs that make up 2/3 of her weight. But Mandy is not discouraged! It is very hard to move for this woman, only the crutches help her to walk, but she even learned to drive a car. It is also difficult to look after yourself with this disease, sometimes a backbreaking work. Mandy works, though, not a full day, providing fully herself. The most difficult was to overcome the psychological barrier. People are not always kind to the handicapped.
References
Biesecker LG, Happle R, Mulliken JB, Weksberg R, Graham JM Jr, Viljoen DL, Cohen MM Jr. (1999). «Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation».
Proteus syndrome http://dermnetnz.org/systemic/proteus.html
Dr Maxime St-Amant et al. Proteus syndrome. http://radiopaedia.org/articles/proteus-syndrome
Rosalind B. Dietrich, Dana E. Glidden, Gerald M. Roth, Rick A. Martin, and Debra S. Demo. (1998). The Proteus Syndrome: CNS Manifestations
Understanding Overgrowth in Proteus Syndrome. (2010). http://www.proteussyndrome.net
The Woman with the giant legs. http://www.candoability.com.au/CDA/Blog/The-Woman-With-The-Giant-Legs_263.html
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