Minor skin trauma can produce fish mouth fissures

Introduction Congenital connective tissue defect disease, clinically characterized by excessive skin elasticity, skin and blood vessel fragility and joint mobility. The disease is rare, more male than female, often with a family history, is an autosomal dominant inheritance, but also characterized by recessive inheritance. A disease caused by an abnormality in the biosynthesis or degradation of a certain component (such as collagen, elastin or glycosaminoglycan) in connective tissue due to congenital defects. In recent years, due to the development of molecular biology and protein chemistry, the major components of extracellular matrix proteins and corresponding multiple gene mutations have been identified.

Cause

A disease caused by an abnormality in the biosynthesis or degradation of a certain component (such as collagen, elastin or glycosaminoglycan) in connective tissue due to congenital defects.

an examination

Related inspection

Skin elasticity test blood routine

Excessive skin elasticity, when the skin is pulled up, it seems that the rubber band is stretched outwards, can be pulled to 15cm or more, and then restored after being released. Skin vascular fragility, slight skin wounds can produce fish-like fissures, causing hematoma or subcutaneous hemorrhage, a small number of patients may be associated with gastrointestinal vascular wall lesions, spontaneous rupture caused by repeated gastrointestinal bleeding or perforation, can also occur esophagus Hey, death can occur when the gastrointestinal hemorrhage is severe.

Differential diagnosis

1. Skin flaccidity: The skin is loose and wrinkled, without excessive stretching of the skin and joints.

2. Tuner syndrome: showing skin joint relaxation, but neck sputum, pygmy childishness and sexual dysplasia.

3. Marfan syndrome: may have excessive joint stretching and dislocation of the joints, eye and cardiovascular abnormalities, visible characteristic spider fingers.

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