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Ehlers-Danlos syndrome (EDS) is the name given to a group of more than 10 different inherited disorders; all involve a genetic defect in collagen and connective-tissue synthesis and structure.
Ehlers-Danlos syndrome can affect the skin, joints, and blood vessels. This syndrome is clinically heterogeneous; the underlying collagen abnormality is different for each type. Clinical recognition of the types of Ehlers-Danlos syndrome is important. One type, type IV, is associated with arterial rupture and visceral perforation, with possible life-threatening consequences.
Clinical:
History
The biochemical collagen defect is present at birth, but clinical manifestations become evident later.
1- Muscle weakness is often present, and patients report a tendency to fall down easily and have poor body control.
2-Sometimes, patients have difficulty walking.
3-Mental development is normal.
4- The newly described tenascin-X–deficient form was described in 8 patients with hyperelastic skin and hypermobile joints.
* Each patient bruised easily, and most had velvety skin.
* A few patients also had joint pain and multiple subluxations.
* None had delayed wound healing or atrophic scars.
* Additional findings in some patients included congenital adrenal hyperplasia, mitral valvular prolapse, stroke, gut bleeding, and premature arteriosclerosis.
5- Dental pathology is common in these patients. Findings include hypodontia of permanent teeth, delayed eruption, and dentin dysplasia.
6-In one patient, splenic rupture due to peliosis led to the diagnosis of vascular Ehlers-Danlos syndrome.
7- Multiple sclerosis can be associated with Ehlers-Danlos syndrome.
8- Absence of the inferior labial or lingual frenula in Ehlers-Danlos syndrome patients has been suggested as a new diagnostic criterion.
9-Ehlers-Danlos syndrome and anorexia nervosa have been described in the same patient.
Physical
To date, 11 variants of Ehlers-Danlos syndrome are identified; all have genetic, biochemical, and clinical differences. More than one third of persons with Ehlers-Danlos syndrome do not fit exactly into a single type; overlap is common.
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* Common to almost all groups is a unique appearance of the skin.
- The skin is usually white and soft, and underlying vessels are sometimes visible.
- The skin has a doughy feel.
- The skin is easily hyperextensible. It is easy to pull, and, once released, it immediately returns to its original state.
- Molluscoid pseudotumors consist of fat surrounded by a fibrous capsule.
- They are commonly seen in patients with type I.
- These nodules can be found in the arms and over the tibias.
- Calcification leads to opacity on radiographs.
- Poor wound healing is not rare.
- The use of sutures is usually a problem in patients, in whom easy dehiscence and cigarette-paper–like scars may be observed. Frequently, these scars are found on the knees.
- The digit joints are most commonly affected, but all the joints can show alterations.
- Dislocations can occur, but patients are usually able to quickly reduce them with no pain.
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