CD-ROM Today (UK) (Spanish) 15/CDRT.iso/dp/0369/03696.txt

Text File | 1994-01-17 | 12KB | 271 lines

$Unique_ID{BRK03696}
$Pretitle{}
$Title{Ehlers-Danlos Syndrome}
$Subject{Ehlers-Danlos Syndrome Arthrochalasia Multiplex Congenita
Arthrochalasis-Dermatorrhexis-Dermatochalasis Cutis Hyperelastica Danlos
Syndrome E-D Syndrome India Rubber Skin Meekeren-Ehlers-Danlos Syndrome
Rubberman Syndrome Van Meekeren I Syndrome Type I Ehlers-Danlos Syndrome
Gravis (severe) ED Type II Ehlers-Danlos Syndrome Mitis (mild) ED Type III
Ehlers-Danlos Syndrome Benign Hypermobility ED Type IV Ehlers-Danlos Syndrome
Ecchymotic ED Sack's ED, Sack-Barabas Syndrome Type V Ehlers-Danlos Syndrome
X-linked ED Type VI Ehlers-Danlos Syndrome Hydroxylysine-Deficient Collagen ED
Ocular ED Type VII Ehlers-Danlos Syndrome Procollagen-Persistent ED}
$Volume{}
$Log{}

Copyright (C) 1986, 1987, 1990, 1991, 1992 National Organization for Rare
Disorders, Inc.

240:
Ehlers-Danlos Syndrome

** IMPORTANT **
It is possible the main title of the article (Ehlers-Danlos Syndrome) is
not the name you expected.  Please check the SYNONYMS listing to find the
alternate names and disorder subdivisions covered by this article.

Synonyms

     Arthrochalasia Multiplex Congenita
     Arthrochalasis-Dermatorrhexis-Dermatochalasis
     Cutis Hyperelastica
     Danlos Syndrome
     E-D Syndrome
     India Rubber Skin
     Meekeren-Ehlers-Danlos Syndrome
     Rubberman Syndrome
     Van Meekeren I Syndrome

DISORDER SUBDIVISIONS

     Type I Ehlers-Danlos Syndrome, also known as Gravis (severe) ED

     Type II Ehlers-Danlos Syndrome, also known as Mitis (mild) ED

     Type III Ehlers-Danlos Syndrome, also known as Benign Hypermobility ED

     Type IV Ehlers-Danlos Syndrome, also known as Ecchymotic ED, Sack's ED,
and Sack-Barabas Syndrome

     Type V Ehlers-Danlos Syndrome, also known as X-linked ED

     Type VI Ehlers-Danlos Syndrome, also known as Hydroxylysine-Deficient
Collagen ED and Ocular ED

     Type VII Ehlers-Danlos Syndrome, also known as Procollagen-Persistent ED

General Discussion

** REMINDER **
The information contained in the Rare Disease Database is provided for
educational purposes only.  It should not be used for diagnostic or treatment
purposes.  If you wish to obtain more information about this disorder, please
contact your personal physician and/or the agencies listed in the "Resources"
section of this report.


Ehlers-Danlos syndrome is an inherited connective tissue disorder.  It is
characterized by the ability of patients to flex their bodies beyond the
normal range (articular hypermobility), to abnormally stretch their skin
(hyperelasticity of the skin), and widespread tissue fragility; i.e. skin,
blood vessels and other tissues can rupture from even minor trauma.

Symptoms

Ehlers-Danlos syndrome can occur with different degrees of severity, ranging
from mild to severe.

Type I
Ehlers-Danlos Syndrome, also known as Gravis (severe) ED.
This type is characterized by skin which can be stretched several
centimeters, but returns to its normal position upon release.  Wide paperlike
scars are often present over bony prominences, particularly on the elbows,
knees and shins.  The extent of joint hypermobility varies, but may be
marked.  Delayed sitting and walking may be present in babies, and
unsteadiness with falling and fractures also may occur.

Type II Ehlers-Danlos Syndrome, also known as Mitis (mild) ED.
This is characterized by milder manifestations; joint hypermobility may be
limited to hands and feet.

Type III Ehlers-Danlos Syndrome, also known as Benign Hypermobility ED.
This type of Ehlers-Danlos syndrome causes a marked degree of joint
hypermobility.  Affected individuals are able to flex their bodies well
beyond the normal range.

Type IV Ehlers-Danlos Syndrome, also known as Ecchymotic ED, Sack's ED,
Sack-Barabas Syndrome).
Minimal skin involvement and moderate or minimal joint involvement occurs
in this type of Ehlers-Danlos syndrome.  Marked bruisability and small
hemorrhagic spots (ecchymoses) in the skin characterize this type of the
disorder.  A bleeding tendency may be present, but it is troublesome in only
a minority of patients.  Widening of the aorta near the heart, resulting from
hemorrhage (dissecting aneurysm), and spontaneous rupture of large arteries
occur rarely.  Fleshy outgrowths (molluscoid pseudo-tumors) frequently form
on top of scars or at pressure points.

Type V Ehlers-Danlos Syndrome, also known as X-linked ED.
This type of E-D syndrome is a hereditary form of the disorder which
affects males.  It is characterized by marked skin hyperextensibility,
moderate joint hypermobility, and moderate fragility of the arteries and
veins.

Type VI Ehlers-Danlos Syndrome, also known as Hydroxylysine-deficient
Collagen ED or Ocular ED.
This type is an autosomal recessively inherited disorder.  In this form
of Ehlers-Danlos syndrome, the eyes are widely spaced and have a parrot-like
or owl-like appearance with folds in the corner of the eyes next to the nose
(epicanthal fold).  Crossed eyes occur frequently.  A blue membrane around
the back of the eye (sclera) and perforation of the globe of the eye have
been described in this rare autosomal recessive form of the disease.  A small
cornea and nearsightedness (myopia) with associated glaucoma have been
described by some investigators; a conical cornea (keratoconus) and corneal
thinning (megalocornea), which are abnormalities of the eye, have also been
reported.  Detachment of the eye's retina and corneal laceration may also
occur following minor trauma.  Displacement of the eye's lens (ectopia
lentis), changes in the back portion of the eye (fundus), and streaks
resembling blood vessels (angioid streaks) have also been described in some
patients with this type of E-D.

Biochemical diagnosis shows a low level of the amino acid hydroxylysine
in the residue from collagen in patients with this type of E-D.

Type VII Ehlers-Danlos Syndrome, also known as Procollagen-persistent ED.
This type of E-D is characterized by excessive floppiness in infancy,
moderate skin and vascular abnormalities and marked joint hypermobility.
Dwarfism occurs occasionally.  This form of E-D may be an autosomal recessive
inherited disorder.

Similar characteristics occur in several types of Ehlers-Danlos Syndrome.
Minor trauma may cause wide gaping wounds but little bleeding.  Wound closure
may be difficult, since sutures tend to tear out of the fragile tissue.
Surgical complications often arise because of deep tissue fragility.  Fluid
flowing out of membranes around joints (synovial effusion), sprains and
dislocations occur frequently.

The following traits may also be present:

     1.  Clubfoot (talipes equinovarus) -- 5%
     2.  Congenital dislocation of the hip -- 1%
     3.  Backward and lateral curvature of the spine (kyphoscoliosis) -- 25%
     4.  Chest deformity -- 20%
     5.  Flat feet are present in 90% of adult patients.

Stomach and bowel (gastrointestinal) hernias and little sacs
(diverticula) are common.  Spontaneous hemorrhage and perforation of portions
of the gastrointestinal tract are rare complications.  Premature birth may
occur because of tissue extensibility in an affected mother; the fetal
membrane fragility and consequent early rupture of the water sack may occur
if the fetus is affected.  Maternal tissue fragility may complicate surgical
incision of the perineum and vagina (episiotomy) or caesarian section.
Bleeding may occur before, during and after childbirth.

Causes

Many forms of Ehlers-Danlos syndrome are autosomal dominant inherited
disorders, but some forms of the disorder are inherited as either autosomal
recessive or x-linked recessive traits.

Human traits including the classic genetic diseases, are the product of
the interaction of two genes for that condition, one received from the father
and one from the mother.

In dominant disorders, a single copy of the disease gene (received from
either the mother or father) will be expressed "dominating" the normal gene
and resulting in appearance of the disease.  The risk of transmitting the
disorder from affected parent to offspring is 50% for each pregnancy
regardless of the sex of the resulting child.)

In recessive disorders, the condition does not appear unless a person
inherits the same defective gene from each parent.  If one receives one
normal gene and one gene for the disease, the person will be a carrier for
the disease, but usually will show no symptoms.  The risk of transmitting the
disease to the children of a couple, both of whom are carriers for a
recessive disorder, is twenty-five percent.  Fifty percent of their children
will be carriers, but healthy as described above.  Twenty-five percent of
their children will receive both normal genes, one from each parent and will
be genetically normal.)

X-linked recessive disorders are conditions which are coded on the X
chromosome.  Females have two X chromosomes, but males have one X chromosome
and one Y chromosome.  Therefore in females, disease traits on the X
chromosome can be masked by the normal gene on the other X chromosome.  Since
males have only one X chromosome, if they inherit a gene for a disease
present on the X, it will be expressed.  Men with X-linked disorders transmit
the gene to all their daughters, who are carriers, but never to their sons.
Women who are carriers of an X-linked disorder have a fifty percent risk of
transmitting the carrier condition to their daughters, and a fifty percent
risk of transmitting the disease to their sons.)

Affected Population

People of both sexes and all ages can be affected by Ehlers-Danlos syndrome.

Some patients are diagnosed in childhood, and others during adulthood.

Therapies:  Standard

Treatment of Ehlers-Danlos syndrome is symptomatic and supportive.  Trauma,
such as cuts and bruises should be especially avoided.  Protective clothing
and padding may be helpful.  If surgery is necessary, the control of bleeding
(hemostasis) must be meticulous.  Wounds should be carefully sutured and
tissue tension avoided.  Obstetric supervision during pregnancy and delivery
is mandatory.  Genetic counseling should be provided for families with this
disorder.

Therapies:  Investigational

Researchers at the Washington State University Department of Veterinary
Microbiology and Pathology have identified cats and dogs with certain types
of Ehlers-Danlos Syndrome.  Study of these animals is expected to lead to
enhanced understanding of the biochemical defects that cause the syndrome and
hopefully new treatments.

Scientists are conducting genetic linkage studies to determine if
Ehlers-Danlos X-linked and Menkes Syndrome are located on the same gene.
These disorders tend to display similar problems with copper metabolism.
Families with more than one affected male or carrier females may wish to
participate in studies to determine the exact relationship of the genetic
linkage in the two disorders.  Interested persons may contact Dr. Yang at
[phone] or Dr. Packman at [phone].

This disease entry is based upon medical information available through
September 1992.  Since NORD's resources are limited, it is not possible to
keep every entry in the Rare Disease Database completely current and
accurate.  Please check with the agencies listed in the Resources section for
the most current information about this disorder.

Resources

For more information on Ehlers-Danlos Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Ehlers Danlos National Foundation
     P.O. Box 1212
     Southgate, MI 48195
     [phone]

     Ehlers-Danlos Support Group
     2 High Garth
     Richmond N Yorks, DL10  4DG
     England

     The National Arthritis and Musculoskeletal and Skin Diseases Information
     Clearinghouse
     Box AMS
     Bethesda, MD  20892
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick; Johns
Hopkins University Press, 1986.  Pp. 915-16.

CECIL TEXTBOOK OF MEDICINE, 18th ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Eds.:  W.B. Saunders Co., 1988.  Pp. 1178-80.