Wednesday, May 19, 2010

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.

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.

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.

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Essentials of Anatomic Pathology

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