Elers's syndrome — Danlosa

Description:

Elersa-Danlo's syndrome - a heterogeneous hereditary disease of connecting fabric with different modes of inheritance. The partial clinical description of this syndrome for the first time was made in 1657 by the Dutch surgeon D. van Mekren with the patient's sketch. The first documentary photo (the patient posed, having strongly stretched skin on a breast) was made in 1880. In Russia the syndrome was in detail described by A. N. Chernogubov (1891), having called it generalized disturbance of connecting fabric. However it did not continue these observations, and only the paper of its work abroad was published. Later this syndrome was described by E. Elers (1901) and H.A. Danlo (1908) is also called by name these scientists.

Symptoms of the Syndrome of Elers — Danlosa:

  1. Skin: superdistensibility (cheeks, under the outside ends of clavicles, elbows, knees), velvet, fragility, bleeding, dark brown freckles (more than 20), hems (multiple, like tissue paper, keloid), the striya in a waist translucent veins, discrepancy of postoperative seams.
  2. Joints: passive extension of a little finger on 90 ° and more, reduction of a thumb of a brush to a forearm, overextension of an elbow joint on 10 ° and more, overextension of a knee joint on 10 ° and more, a free contact with floor palms at not bent knees, overextension of interphalangeal, carpal, ankle and other joints, habitual dislocation of joints, flat-footedness.
  3. Eyes: ptosis, periorbital completeness, retina amotio, remains of an epikant, opthalmorrhesis.
  4. Ears: superdistensibility.
  5. Teeth: partial adontiya, accessory teeth, opalescent enamel, periodontosis, multiple caries.
  6. Thorax: scoliosis, kyphosis, lordosis, flat back, impression of a breast.
  7. Stomach: hernias (umbilical, white line, inguinal, phrenic), spontaneous perforation of intestines.
  8. Extremities: varicose veins, hypodermic mobile small knots on shins.
  9. Heart: prolapse of the mitral valve, arrhythmia, vegeto-vascular dystonia.
  10. Internals: ptosis of a stomach, kidneys and uterus.
  11. Brain: aneurism of vessels of a brain, subarachnoidal hemorrhages.
  12. Rapid childbirth.

Thus, at Elersa-Danlo's syndrome there are disturbances (primary or secondary) in all systems of an organism. The most important diagnostic characters are hyper elasticity of skin; hypodermic small knots (sferul) which are easier probed on the front surface of a shin; overextension of joints; the increased vulnerability of fabrics; symptoms of hemorrhagic diathesis; prolapse of the mitral valve.

The reasons of the Syndrome of Elers — Danlosa:

The main clinical characteristics of a syndrome of Elersa-Danlo are caused by inborn hyper distensibility of connecting fabric in connection with the collagen synthesis disturbances caused by mutations in different genes of collagen. 10 types of a syndrome of Elersa-Danlo which from the kliniko-genetic point of view have to be considered as independent nosological forms are identified (clinically, biochemical, molecular genetically).

Treatment of the Syndrome of Elers — Danlosa:

Children with Elers Danlos I's syndrome of type have to be under regular observation of the cardiologist. Dynamic echocardiographic control of a condition of the mitral valve and the size of an aorta is carried out. At disturbance of process of repolarization in a myocardium carrying out courses of cardiotrophic therapy is recommended. Sanitation of the centers of an infection and operative measures have to be carried out against the background of antibacterial therapy for the purpose of prevention of an infectious endocarditis.