Causes and risk factors
Mutation of various collagen genes (COL1A1; COL1A2, CHST14, etc.) Type of inheritance: autosomal dominant, autosomal recessive; X-linked
Which are the symptoms?
The main clinical manifestations are hyper-extensible, velvety skin with a soft and pasty consistency, slow wound healing, dystrophic scars, easy bruising, hypermobility of the joints and general fragility of the connective tissue. The classification of the Ehlers-Danlos syndrome is currently being determined with the allocation of various forms; main ones:
- Classic type with increased elasticity and fragility of the skin with atrophic scars; joint hypermobility, which is transmitted by an autosomal dominant mechanism, frequency 1 / 20,000-40,000.
- Hypermobile type with generalized hypermobility of the joints; soft and velvety skin (autosomal dominant), frequency 1 / 5000-10000
- Vascular type with thin translucent skin; fragility and rupture of arteries, intestines, uterus; easy bruising; characteristic appearance, weakness in small joints of the hands (autosomal dominant) frequency 1 / 50,000-250,000
- Kyphoscoliotic type with generalized laxity of ligaments; progressive scoliosis; muscle hypotension at birth; fragility of the sclera and rupture of the eyeball (autosomal recessive). 1/100000
Other rarer forms of EDS are also described. Clinical symptoms are heterogeneous depending on the type of subgroup to which the patient belongs.
The most common symptoms are, but not all of them are always present:
- Frequent subluxation / dislocation of the joints
- Hyperelasticity of the skin
- Atrophic scars
- Frequent hematomas
- Aortic and aneurysm dissection, bowel rupture
- Worsening scoliosis
- Funnel chest deformity
How is it diagnosed?
How is it treated?
There are no specific treatments for the syndrome; the various symptoms present must be treated.