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.

Essentials of Anatomic Pathology

This second edition of a much praised and widely used reference manual on anatomic pathology has been extensively revised and expanded by 70+ international experts to cover the entire curriculum of anatomic pathology for a pathology residency training program, including molecular pathology, human genetics, electron microscopy, microbiology for surgical patho;ogists, transplant pathology, and cytopathology. In addition, the authors have incorporated recent advances in molecular pathology, cytology, and immunohistochemistry, adopted the new series of World Health Organization classification books, and used the 2002 TNM staging system and classifications throughout the book. Several new chapters on transplant pathology, the spleen, non-neoplastic skin diseases, the head and neck, the eye and ocular adnexae, the vulva and vagina, and the penis and scrotum significantly expand the book’s coverage. The 2000+ new black-and-white images added to the text are also available. The comprehensive, evidence-based practice information is presented in an outline format that is clear and easy to follow.

For Download :

CLICK HERE