What is Ehlers-Danlo Syndrome?
Ehlers syndrome – Danlo (skin hyperelasticity, “loose” joints, “Indian gutta-percha man”) – a disease inherited in an autosomal dominant type due to a primary defect in collagen synthesis.
Symptoms of Ehlers Syndrome – Danlo
Four clinical variants of the syndrome are characteristic:
- vulnerable skin, the formation of keloid scars due to a deficiency or absence of type III collagen;
- skin hyperelasticity in combination with congenital heart disease in the absence of joint looseness;
- skin hyperelasticity, joint looseness in combination with eye symptoms, scoliosis due to partial collagen autolysis due to deficiency of lysine hydroxylase;
- skin hyperelasticity, joint looseness, bilateral dislocation of the hip joints as a result of the disrupted process of converting collagen into collagen due to a decrease in the activity of procollagen peptidase.
The clinical picture of the disease depends on the degree of influence of the genetic defects of the connective tissue described above and, in general, may manifest itself with certain signs. Patients sometimes find an effusion in the knee joints as a result of constant trauma or loose joints. The gait of such patients resembles the gait of patients with dorsal dryness. The usual subluxations and dislocations of the clavicular-sternal joint, shoulder joints, head of the radius, patella are described. In patients as bright clinical symptoms, abnormal mobility of the fingers in the interphalangeal joints in the dorsal direction, dislocation of the fingers in the metacarpophalangeal joints are observed. Other characteristic clinical signs include non-closure of the vertebral arches, kyphoscoliosis, genu recurvatum, arachnodactyly, tooth deformities, hernias, flat or hollow feet, blue sclera, lens ectopia, calcified hematomas. The skin is velvety-looking, resembles wet suede, it becomes shiny, thinned. Hyperpigmentation of the skin in the area of the knee joints, chin, elbow joints was noted.
You should pay attention to the poor healing of skin wounds, excessive bleeding, although these coagulograms do not show deviations from the norm. From the side of internal organs there are pulmonary emphysema, pneumothorax, congenital heart defects. With age, skin hyperelasticity and joint looseness decrease.