What is the Ehlers-Danlos syndrome?

Ehlers-Danlos syndrome (EDS) is a rare inherited connective tissue disease. In this disease is a disorder of collagen synthesis. Connective tissue occurs throughout the body, so the symptoms of this disease are very diverse. It can lead to over-stretchy, easily damaged skin, as well as to the tearing of the internal organs and the vessels. There are six different EDS types, which are more or less pronounced. Their symptoms can vary greatly. Overly movable joints and distensible skin can occur to varying degrees with each EDS type.

Classic type (Type I and II)

  • The skin is highly ductile and easily damaged, hematomas (blue spots), abnormal wound healing, severe over-mobility of the joints, internal organs and vessels may be affected. (Type II symptoms as in Type I, but less pronounced)

Hypermobile type (type III)

  • low involvement of the skin, pronounced hyper-mobility of the joints

Vascular type (type IV)

  • thin translucent skin, pronounced hematoma, hypermobility of small joints, involvement of internal organs and vessels

Kyphoscoliotic type (Type VI)

  • Extensibility of the skin medium to strong, abnormal wound healing, strong hyper-mobility of the joints, ocular involvement, involvement of the internal organs

Arthrochalasia type (type VII A / B)

  • Excessive skin (mild to moderate), thin skin, dislocation of the hip, pronounced hyper-mobility of the joints

Dermatosparaxis type (type VII C)

  • Skin very flabby, marked hyper-mobility of the joints, involvement of internal organs

Diagnosis:

The diagnosis of a possible EDS disease is made with a skin biopsy. This is a simple procedure in which a skin sample is taken under local anesthesia. The chemical structure of collagen in the skin should be checked. Based on this value, the EDS type is determined.

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