Ehlers Syndrome - Danlos is a rare genetic disease that affects the connective tissue and is characterized by hyperextensible skin and joints, heavy wound healing, fragility of large blood vessels. 6 types of this syndrome are recognized, each depending on symptoms and causes. In some cases it may be a type III or V collagen deficiency. Collagen is a protein that gives skin elasticity and hardness. This syndrome affects both women and men, regardless of race or ethnicity.
There are six types of manifestation of this syndrome, the most frequent being types I, II and III.
I. classical - the most common, with skin and joint damage;
II. hypermobility - the affection of the joints predominates
III. vascular - the most serious, with the risk of arterial rupture and internal organs (intestine, uterus)
IV. Cifoscoliotica - Severe scoliosis occurs at an early age and eye damage
V. Artrocalasis - frequency of congenital hip dislocations
VI. Dermatosparaxis - skin lesions predominate
Most symptoms are related to the skin and joints.
Skin - hyperelasticity of the skin , which is fragile and breaks at minimal shocks, generating large wounds, followed by a long and difficult healing; the appearance of bloody lesions.
Joints - joint hypermobility ; instability often accompanied by dislocations and dislocations; intense pain; exaggerated flexibility; chronic pain often present, which can be accompanied by early osteoarthritis of the joints.
Other symptoms - fragility and arterial / intestinal / uterine rupture ; hematomas numerous, spontaneous, without coagulation disorders; scoliosis the birth; low muscle tone; hernia; corneal lesions.
Diagnosis and treatment
The diagnosis of Ehlers - Danlos syndrome is based on the genetic history of the family and on the symptoms. Since many patients do not fit exactly in the classical types, doctors are having difficulty in this regard. There are some tests that can be performed to determine the type of disease; one of them is skin biopsy.
In general, medical intervention is limited to symptomatic treatment. The sutures of the wounds must be fine and any injury should be carefully treated. To avoid scarring it is necessary that all wounds be treated, as far as possible, without surgery. Exaggerated exposure to the sun should be avoided. Activities that involve intense effort are not recommended because they could generate dislocations or ruptures of the joints.
Some doctors recommend immobilization in a wheelchair; others recommend the help of a rag for strengthening the muscles and protecting the joints.
Vitamin C helps to heal the lesions and increase the skin's resistance. At the articular level, some surgical interventions can be practiced (mounting of the fixing devices, as well as the replacement of the capsule for dislocations of the shoulder, joint or vertebral surgery), but these are only performed if absolutely necessary.
Tags Newborn malformations