Ehlers-Danlos syndrome, also known as hyperelastic skin syndrome, is a congenital connective tissue defect disease. Clinically, it is mainly characterized by three features: hyperelasticity of the skin, fragility of the skin and blood vessels, and excessive joint mobility. This disease is rare, more common in males than females, often with a family history, and is inherited as an autosomal dominant trait, although there are also cases characterized by recessive inheritance.

bubble_chart Clinical Manifestations

The skin exhibits hyperelasticity, stretching like a rubber band when pulled, capable of extending to 15 cm or more, and returning to its original state upon release. The skin's blood vessels are fragile, and minor trauma can lead to fish-mouth-like fissures, causing hematomas or subcutaneous bleeding. A small number of patients may also have gastrointestinal vascular wall lesions, which can lead to spontaneous rupture, resulting in recurrent gastrointestinal bleeding or perforation. Esophageal hernias may also occur, and severe gastrointestinal bleeding can be fatal.

bubble_chart Diagnosis

The diagnosis can be made based on typical clinical manifestations.

bubble_chart Treatment Measures

There is no specific treatment for this disease. The use of large amounts of vitamin C, syphilis E, chondroitin sulfate, etc., may have some effect. Prevention mainly focuses on avoiding trauma, and generally, there are no adverse consequences. A very small number of patients may experience massive gastrointestinal bleeding, and in rare cases, death due to bleeding.

bubble_chart Differentiation

1. Cutis Laxa: The skin is loose and hangs in folds, without hyperextensibility of the skin and joints.
2. Turner Syndrome: Presents with laxity of the skin and joints, but also includes neck webbing, dwarfism, sexual infantilism, and poor sexual development.
3. Marfan Syndrome: May exhibit hyperextensibility of large joints and dislocations, abnormalities in the eyes and cardiovascular system, and characteristic arachnodactyly can be observed.