Syndrome Protea

Description:

Proteus's syndrome (other - Greek ) — very rare inborn disease which is characterized by excessively rapid and atypical growth of a bone, and also integuments. Often is followed by tumors of separate parts of a body.

Complexity of treatment and diagnosis consists that Proteus's syndrome has various clinical manifestations. According to Ancient Greek mythology, god of the sea of Proteas had ability to change a shape of the body.

Reasons of a syndrome of Proteus:

Mosaicism of somatic cells on a dominant lethal gene which is not identified yet is a cause of illness. However messages on separate cases of easy displays of a disease at parents of the struck probands call this hypothesis into question. As the hyperplasia and a hypoplasia often arise together, other possible explanation of this postzigotichny event is embryonal somatic recombination that leads to formation of at least three subspecies of cells - normal, hypertrophic and atrophic cells.

Symptoms of a syndrome of Proteus:

Proteus's syndrome causes growth of skin, bones, muscles, fatty tissue, circulatory and absorbent vessels. At the birth people, as a rule, have no obvious symptoms of a disease.

With age can lead to excessively rapid growth of tumors. Average life expectancy is reduced at victims often of increase in frequency of a deep vein thrombosis and an embolism of a pulmonary artery which can receive complications from the diseases connected with vascular malformation. Due to the increase in weight of the deformed extremity, muscular and joint pains can develop. Other complications can arise because of the overgrowth of mass of fabrics - as in a case with Joseph Merrik who choked in a dream when vertebrae of its cervical department of a backbone were turned in under weight of the head.

The disease in itself does not cause mental retardation. Growth of fabrics can lead to secondary damage of a nervous system that in turn leads to cognitive disturbances.

Suffering are exposed to the increased risk of development of certain types of cancer, tumor, a meningioma and adenoma of sialadens

Treatment of a syndrome of Proteus:

Treatment provides:
- early identification of serious medical problems;
- uses of a preventive and symptomatic treatment.

Gemigiperplaziya:
- medical approaches to treatment are rather limited and have to be defined in each separate case;
- unequal length of legs can lead to further complications and be adjusted by the experienced orthopedist;
- the increased fingers can cause problems for the patient in everyday life: by the letter, capture of objects, food, clothing and selection of convenient footwear.

Gemifatsialny macrosomia and macroglossia:
- can promote formation of malocclusion;
- extension of teeth, maxillofacial surgery and constant observation of the orthodontist is appointed.

Scoliosis: early establishment of the diagnosis prevents development of complications and progressing of symptomatology.

Skin and hypodermic anomalies: demand constant surveillance as lipomas and vascular anomalies can lead not only to local, but also to system damages.

Skin vascular spots and anomalies: perhaps laser treatment for removal of skin vascular spots and other anomalies, such as spots of dark cherry color and capillary hemangiomas. Removal of spots of "color of coffee with milk" and melanin - the connected hyperpegmentation is temporary therefore inefficient.

Secondary thrombocytopenia (especially if in the anamnesis hematomas or petechias were noted).

Thrombosis: complex treatment is appointed to patients with an acute pain in hands and legs, with visible hems, an asthma or the complicated breath.

Internal damages: internal damages, such as lipomas or pulmonary cysts help to establish a magnetic and resonant research of a thorax and abdominal cavity.

Drug treatment is not an essential component of standard treatment of a syndrome of Proteus.

Surgical treatment:
Before an operative measure patients with Proteus's syndrome need to conduct laboratory examination of a blood coagulation.
Progressive scoliosis can demand orthopedic intervention.
Patients can sometimes need shortening of excessively long fingers to wear shoes and to use hands.
If the patient with gemifatsialny a macrosomia or a macroglossia has trouble breathing, feeding or malocclusion, surgical intervention with participation of the maxillofacial surgeon, orthodontist and stomatologist is necessary.
Though any experienced surgeon can remove large and dangerous skin and hypodermic spots, consultation of the plastic surgeon indispensable when carrying out operation in the person. The hypodermic defeats which are on vitals or those which quickly increase demand immediate intervention.
If necessary internal lipomas and cysts of lungs surgically are removed.