Ehlers-Danlos Syndrome

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.



* 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 are small, spongy tumors found over scars and pressure points.

• Molluscoid pseudotumors consist of fat surrounded by a fibrous capsule.
• They are commonly seen in patients with type I.

* Smaller, deep, palpable, and movable nodules are often present in the subcutaneous tissue.

• These nodules can be found in the arms and over the tibias.
• Calcification leads to opacity on radiographs.

* Fragility of dermal skin is common, with frequent bruises and lacerations.

• 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 joints are hyperextensible, sometimes dramatically, but the degree of involvement is variable.

• 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.