Ehlers-Danlos syndrome - symptoms, signs, diagnosis

Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome

Ehlers-Danlos Syndrome

 

 

Ehlers-Danlos syndrome is a hereditary disease associated with a defect of collagen, characterized by hypermobility of the joints, hyperelasticity of the skin and widespread thinning and mild tissue trauma. The diagnosis is clinical. Treatment is supportive.

 

The type of inheritance is usually autosomal dominant, but Ehlers-Danlos syndrome is heterogeneous: different gene mutations cover the amount, structure and distribution of different types of collagen. There are 5 basic types plus some rare or difficult to classify types.

 

Ehlers-Danlos syndrome - symptoms, signs, diagnosis

 

 

Symptoms and signs vary widely. The skin can stretch a few centimeters, but returns to its original state when released. Wide "parchment" scars are often located above the bony protuberances, especially over the elbows, knees and legs; cicatricial changes are less pronounced with hypermobile type.Pseudotumors often form on the surface of scars or at points exposed to elevated pressure. The severity of hypermobility of the joints varies, but may be noticeable with arthro-chalasis, classical and hyper-mobile types. Tendency to bleeding is rare, although the vascular type is characterized by rupture of blood vessels and the formation of hematomas. Subcutaneous calcified formations may be visible on the radiograph.

 

Minor injuries can cause wide, gaping wounds and slight bleeding; surgical closure of the defect can be difficult, as the sutures tend to break through thin fabrics. Surgical complications develop due to the fragility and trauma of deep tissues. Sclera suture wounds carefully and minimize tissue tension. Obstetric surveillance during pregnancy and childbirth is mandatory. Genetic counseling should be provided.