Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome is an inherited disorder of collagen, which is characterized by a hyper-mobility of the joints, a dermal hyperelasticity and an extended tissue brittleness. The diagnosis is made clinically. Treatment is supportive.

Inheritance is usually autosomal dominant, but the Ehlers-Danlos syndrome is heterogeneous. Various mutations affect the amount, the structure or composition of various collagens. Mutations can exist in the genes that collagens (eg. As type I, III or V) or collagen-modifying enzymes (for. Example, lysyl hydroxylase, a collagen-cleaving protease) encoding. The six main types are the classic, the hypermobile, vascular, the kyphoskoliotische that arthrochalasische shape and dermatosparaxis. There are still some rare or difficult to classify shapes.

Ehlers-Danlos syndrome is an inherited disorder of collagen, which is characterized by a hyper-mobility of the joints, a dermal hyperelasticity and an extended tissue brittleness. The diagnosis is made clinically. Treatment is supportive. Inheritance is usually autosomal dominant, but the Ehlers-Danlos syndrome is heterogeneous. Various mutations affect the amount, the structure or composition of various collagens. Mutations can exist in the genes that collagens (eg. As type I, III or V) or collagen-modifying enzymes (for. Example, lysyl hydroxylase, a collagen-cleaving protease) encoding. The six main types are the classic, the hypermobile, vascular, the kyphoskoliotische that arthrochalasische shape and dermatosparaxis. There are still some rare or difficult to classify shapes. Symptoms and signs Symptoms vary greatly. Predominant symptoms are hypermobile joints, abnormal scarring and wound healing, fragile vessels and velvety, hyperextensible skin. The skin can stretch a few centimeters, but returns to normal when you release it. Extensive paper-like scars are over bony prominences, especially the elbows, knees and shins. The scarring is less pronounced in the hypermobile form. Molluskoide pseudotumor (fleshy growths) often develop scars or pressure points. The degree of joint hypermobility varies, but can be very pronounced in the arthrochalasischen, classical and hypermobile form. Bleeding tendencies are rare, although in the form of vascular vascular ruptures or bleeding occur. Subcutaneous calcified nodules can be palpated or seen on radiographs. Ehlers-Danlos Syndrome ST MARYS HOSPITAL MEDICAL SCHOOL / SCIENCE PHOTO LIBRARY var model = {thumbnailUrl: ‘/-/media/manual/professional/images/m1500013-ehlers-danlos-syndrome-science-photo-library-high_de.jpg? lang = en & thn = 0 & mw = 350 ‘, imageUrl:’ /-/media/manual/professional/images/m1500013-ehlers-danlos-syndrome-science-photo-library-high_de.jpg?la=de&thn=0, title ‘: ‘Ehlers-Danlos syndrome’, description: ‘ u003Ca id = “v37897649 ” class = “”anchor “” u003e u003c / a u003e u003cdiv class = “”para “” u003e u003cp u003eEine abnormal skin elasticity can be seen in this patient with Ehlers-Danlos syndrome u003c / p u003e u003c / div u003e. ‘credits’ ST MARYS HOSPITAL MEDICAL SCHOOL / SCIENCE PHOTO LIBRARY’

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