CD-ROM Today (UK) (Spanish) 15/CDRT.iso/dp/0371/03715.txt

Text File | 1994-01-17 | 14KB | 327 lines

$Unique_ID{BRK03715}
$Pretitle{}
$Title{Epidermolysis Bullosa}
$Subject{Acantholysis Bullosa Acanthosis Bullosa Bullosa Hereditaria
Dowling-Meara Syndrome EB Epidermolysis Bullosa Acquisita Epidermolysis
Bullosa Hereditaria Epidermolysis Bullosa Letalias Epidermolysis Hereditaria
Tarda Goldscheider's Disease Hallopeau-Siemens Disease Heinrichsbauer Syndrome
Herlitz Syndrome Hyperplastic Epidermolysis Bullosa Keratolysis Kobner's
Disease Localized Epidermolysis Bullosa Polydysplastic Epidermolysis Bullosa
Weber-Cockayne Disease}
$Volume{}
$Log{}

Copyright (C) 1984, 1985, 1986, 1987, 1988, 1989, 1990, 1991, 1992, 1993
National Organization for Rare Disorders, Inc.

1:
Epidermolysis Bullosa

** IMPORTANT **
It is possible that the main title of the article (Epidermolysis Bullosa)
is not the name you expected.  Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

     Acantholysis Bullosa
     Acanthosis Bullosa
     Bullosa Hereditaria
     Dowling-Meara Syndrome
     EB
     Epidermolysis Bullosa Acquisita
     Epidermolysis Bullosa Hereditaria
     Epidermolysis Bullosa Letalias
     Epidermolysis Hereditaria Tarda
     Goldscheider's Disease
     Hallopeau-Siemens Disease
     Heinrichsbauer Syndrome
     Herlitz Syndrome
     Hyperplastic Epidermolysis Bullosa
     Keratolysis
     Kobner's Disease
     Localized Epidermolysis Bullosa
     Polydysplastic Epidermolysis Bullosa
     Weber-Cockayne Disease

DISORDER SUBDIVISIONS:

Simplex Epidermolysis Bullosa, also known as Non-Scarring Epidermolysis
Bullosa

Dystrophic Epidermolysis Bullosa, also known as Scarring Bullosa

Information on the following report can be found in the Related Disorders
section of this report:

     Ectodermal Dysplasia
     Ichthyosis, Peeling Skin Syndrome
     Syphilis, Congenital

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.


Epidermolysis Bullosa (EB) refers to a group of rare, hereditary skin
diseases.  It is characterized by fragile skin in which blisters and raised
areas, that usually contain fluid (vesicles), develop following minor trauma.
In some forms of EB the mucous membranes are involved.  Healing is impaired
in some forms, causing multiple scars or damage to underlying muscle tissue
(contractures).

Symptoms

Epidermolysis Bullosa is divided into the following subdivisions based
upon the depth of the blisters.

In EB SIMPLEX (non-scarring), the blisters occur within the outer layers
of the skin (epidermis).  The Weber-Cockayne form of EB simplex is
characterized by the development of blisters following minor trauma to the
hands and feet and other friction points.  It is inherited as an autosomal
dominant trait.  In EB herpetiformis (Dowling-Meara), which is another form
of EB simplex, there is widespread blistering and much of the body may be
affected.  This is probably inherited through autosomal dominant genes.  The
mucous membranes are seldom involved.  Blisters usually heal without scars;
secondary infection is the primary complication.  Warm weather may aggravate
the condition.  Patients with the simplex form usually have normal mental and
physical development.

In JUNCTIONAL EB, the blisters occur deeper within the layers of the skin
(lamina lucida of the basement membrane zone.)  The Herlitz type (EB
lethalis) has extensive blisters of skin and mucous membranes and is usually
fatal in the newborn period.  In other junctional forms of EB, such as the
generalized junctional form, there may be extensive facial blistering
(erosions) and loss of nails.  All junctional forms are probably inherited as
autosomal recessive traits.

EB DYSTROPHIC (scarring) is characterized by blisters that develop
beneath the lowest layer of the skin (basement membrane zone).  All forms of
dystrophic EB cause scarring.  They can be inherited through both autosomal
dominant and recessive genes.  The recessive dystrophic form (Hallopeau-
Siemens) is the most severe.  Blisters appear on the arms and legs and are
widespread, affecting mucous membranes and skin.  Blisters leave scars and
small "seed-like" or miliary cysts after healing.  The tongue, eyes and
esophagus are often affected.  Teeth may be malformed and nails may be lost.
Scars leave "mitten" deformities of the fingers and toes.  In some cases,
hair follicles may be destroyed and hair loss (alopecia) develops.
Malnutrition, anemia and growth retardation can result from chronic blood
loss and poor food intake.

Causes

Epidermolysis Bullosa, in its various forms, is inherited as either autosomal
dominant or recessive traits.  The genetic defect may cause abnormalities of
the substances that are necessary for skin growth such as keratin and
collagen, and the enzyme collagenase.

Human traits, including the classic genetic diseases, are the product of
the interaction of two genes, 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 the father) will be expressed "dominating" the other
normal gene and resulting in the appearance of the disease.  The risk of
transmitting the disorder from affected parent to offspring is fifty percent
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 for the same trait 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 not show symptoms.  The risk of
transmitting the disease to the children of a couple, both of whom are
carriers of the 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.

In non-scarring Epidermolysis Bullosa Simplex, researchers have found
that genes on chromosomes 12 and 17 are involved in causing the disorder.
The exact way in which this occurs has yet to be fully explained; however,
scientists believe they have found the genes responsible for the development
of EB Simplex, and are studying these genes to determine the underlying
biochemical defect.

The gene for Type VII Collagen has been located on chromosome 3 in a
family with dominant dystrophic EB.  Scientists are hopeful that this
information may lead to improved treatment of EB patients in the future.

Affected Population

About 25,000 to 50,000 persons in the United States are thought to be
affected by all forms of Epidermolysis Bullosa.

Related Disorders

Symptoms of the following disorders can be similar to those of Epidermolysis
Bullosa.  Comparisons may be useful for differential diagnosis:

Congenital Syphilis is a chronic infectious disease given to a baby by an
infected mother.  It is caused by a bacteria known as Spirochete treponema
pallidum.  Symptoms include but are not limited to low birth weight, fever,
rash and the shedding of skin on the palms of the hands and the soles of the
feet.  The shedding or absence of skin during infancy may be confused with
the diagnosis of Epidermolysis Bullosa.  (For more information on this
disorder choose "Syphilis, Congenital" as your search term in the Rare
Disease Database).

Ectodermal Dysplasia is a rare inherited disorder.  It is thought to be
inherited through an autosomal dominant gene; however, cases have been
reported that are thought to be autosomal recessive inheritance.  Ectodermal
Dysplasia presents as the absence of skin on all or parts of the fingers
and/or toes, and the absence or closure of the tear ducts in the eyes
(lacrimal glands).  Cleft palate and lip may also be present.  Brown spots
(macules) may be present over the chest and abdomen.  (For more information
on this disorder, choose "Ectodermal Dysplasias" as your search term in the
Rare Disease Database.)

Ichthyosis or Peeling Skin Syndrome is a group of rare genetic disorders
characterized by the periodic shedding of the outer layer of the skin
(stratum corneum).  Patients with Ichthyosis have skin that is thicker than
normal.  Redness (erythroderma) and itching (pruritus) may also be present.
Some patients with Ichthyosis have short stature.  (For more information on
these disorders choose "Ichthyosis" as your search term in the Rare Disease
Database).

Therapies:  Standard

Therapy for Epidermolysis Bullosa is symptomatic and supportive.  Antibiotics
are useful to prevent or treat infection.  Patients need good nursing and
support care.  A high protein diet is helpful in cases where malnutrition
develops.  A modified, cool environment is also more comfortable for patients
with this disease.  Care should be taken when removing bandages so as not to
disturb the scabs.

Therapies:  Investigational

Research on Epidermolysis Bullosa is ongoing in the areas of new drugs, wound
healing antibiotics, the inhibition of blister formation and genetics.  The
anticonvulsant and cardiac depressant drug phenytoin (Dilantin) has a
beneficial effect in the test tube by blocking collagenase but does not seem
clinically useful in reducing blistering on patients.

The orphan drug, Sucralfate Suspension, is being tested as a treatment of
oral ulcerations and dysphagia in Epidermolysis Bullosa patients.  The drug
is manufactured by Naska Pharmacal Co., 55 Plant Ave., Hauppauge, NY, 11788.

Medical researchers have successfully transplanted donor skin cells grown
in tissue culture onto damaged skin of a patient with Epidermolysis Bullosa.
The culture technique involves growing epidermal cells to produce sheets of
skin cells called keratinocytes in laboratory dishes.  Approximately half the
sheets of tissue grafted onto the patient's skin became attached
successfully, with no sign of infection, rejection or recurrent blistering
during a four year follow-up period.  Also, structures which normally connect
layers of skin (anchoring fibrils) and are absent or defective in severe
Epidermolysis Bullosa, were found to develop after these skin grafts.
However, more research is needed to determine if this procedure will be safe
and effective on more EB patients.

Studies are also underway to explore the effectiveness of cyclosporine,
and cyclosporine in conjunction with prednisone on EB Acquista.

A national Epidermolysis Bullosa Registry at Rockefeller University is
attempting to enroll and follow Epidermolysis Bullosa patients over a long
period of time.  Interested persons may contact:

Dr. Martin Carter
The Rockefeller University Hospital
Laboratory for Investigative Research
New York, NY  10021
[phone]

Genetic studies are underway at several research institutions to identify
the genes that cause each type of Epidermolysis Bullosa and learn why they
cause the blistering symptoms.  The study of these genes will hopefully lead
to improved diagnosis and treatments.

Scientists are doing research on gene therapy for Epidermolysis Bullosa.
Volunteers are needed for studies in developing genetic screening and gene
therapy.  Scientsts will work through the patient's own physician.
Interested persons should contact:

Dr. Elaine Fuchs or Elizabeth Hutton at [phone].

This disease entry is based upon medical information available through
June 1993.  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 Epidermolysis Bullosa, please contact:

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

     Dystrophic Epidermolysis Bullosa Research Association of America, Inc.
     (D.E.B.R.A.)
     141 Fifth Ave., Suite 7-South
     New York, NY  10010
     [phone]

     Eugene Bauer, M.D.
     Stanford University, School of Medicine
     Department of Dermatology
     851 Welch Rd.
     Stanford, CA  94304-1677

     Dr. Martin Carter
     The Rockefeller University Hospital
     Laboratory for Investigative Research
     New York, NY 10021
     [phone]

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

     D.E.B.R.A.
     7 Sandhurst Lodge
     Wokingham Road
     Crowthorne
     Berkshire RG11 7QD
     England
     Tel:  [phone]

For information on genetics and genetic counseling referrals, please
contact:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY  10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD 20815
     (800) 336-GENE
     [phone]

References

CLINICAL DERMATOLOGY, 2nd ed.; Thomas P. Habif, M.D., Editor: The C.V. Mosby
Company, 1990.  Pp. 419-421.

DERMATOLOGIC CLINICS:  THE GENODERMATOSES:  J. Alper, ed.; W.B. Saunders
Co. 1987 (volume 5, number 1).  Pp. 27-30.

MENDELIAN INHERITANCE IN MAN, 8th ed.;  Victor A. McKusick; Johns Hopkins
University Press, 1990.  Pp. 303-306.

TEXTBOOK OF PEDIATRICS, 14th Ed.; Richard E. Behrman, M.D., Editor: The
W.B. Saunders Co., 1992.  Pp. 1642-1643.

INHERITED AND ACQUIRED BLISTERING DISEASES, S.I. Katz; The New England
Journal of Medicine (July 16, 1992; 327 (3)):  196-197.