Puerto MM

Language: Spanish
References: 0
Page: 571-597
PDF size: 436.20 Kb.

ABSTRACT

Introduction: Ehlers-Danlos syndromeis a rare disease which diagnosis is in many cases underestimated. It is an inherited disease, caused by chromosomal mutations, which may have autosomal dominant, recessive or X-linked behavior. Objective: it is classified into 6 subtypes, being the most frequent type I and III, and the most serious of all, is the vascular subtype. It is important to make an appropriate clinical diagnosis. Development: this disease is characterized mainly by defects in the production of collagen, and as a result of the present damage in the enzymes responsible for its synthesis. The variety with which it is presented causes it to be considered heterogeneous; it is why there are great types of this disease, each with similar signs and symptoms, but with different progression and evolution, presenting joint hyperlaxity, hyperelasticityof the skin and hyper-ecchymosesdue to fragility of the blood vessels. At present there is no specific treatment for it. Conclusion: genetic and biochemical studies are needed to help to identify the coexisting defects. Some forms of the syndrome are common, while others are very rare. It is important to perform the complete physical examination and look for the specific characteristics of each subtype to identify it with the highest possible precision.