CD-ROM Today 1996 January/CD-ROM Today 1996 January.iso/dp/0386/03860.txt

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$Unique_ID{BRK03860}
$Pretitle{}
$Title{Ichthyosis Congenita}
$Subject{Ichthyosis Congenita Collodion Baby Dry Skin Congenital Ichthyosiform
Erythroderma Lamellar Ichthyosis Non-bullous Congenital Ichthyosiform
Erythroderma Xeroderma Desquamation of Newborn }
$Volume{}
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Copyright (C) 1986, 1987, 1990, 1992, 1993 National Organization for Rare
Disorders, Inc.

241:
Ichthyosis Congenita

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

Synonyms

     Collodion Baby
     Dry Skin
     Congenital Ichthyosiform Erythroderma
     Lamellar Ichthyosis
     Non-bullous Congenital Ichthyosiform Erythroderma
     Xeroderma
     Desquamation of Newborn

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.


Ichthyosis Congenita is an inherited skin disorder.  It is characterized
by generalized, abnormally red (erythroderma), dry and rough skin.

Symptoms

Ichthyosis Congenita is characterized by generalized abnormal red, dry and
rough skin.  Large, coarse scales also occur on the skin, causing itchiness.
These characteristics appear over most of the body.  Skin on the palms of the
hands and soles of the feet is abnormally thick.

Causes

Ichthyosis Congenita is an autosomal recessive inherited disorder.

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 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.

Some forms of Ichthyosis Congenita may be inherited through sex-linked
genes.  The gene for Sex-Linked Ichthyosis is located on the short arm of the
male sex chromosome X.  This has presented geneticists with a useful probe
for this form of the disorder.

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

Onset of Ichthyosis Congenita is before birth or soon after.

Related Disorders

Ichthyosis Vulgaris is an autosomal dominant inherited disorder with onset in
childhood.  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.)  Fine scales usually
occur on the back and on surfaces of muscles that extend a joint (extensors).
There are usually many markings on the palms and soles of the feet.

X-linked Ichthyosis is an inherited disorder that occurs only in males,
with onset at birth or during infancy.  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.)  It is characterized by large, dark, sometimes fine scales which
are prominent on the neck and trunk.  Skin on the palms and soles of the feet
is normal.  Opacities in the cornea of the eye occur in this form of
Ichthyosis.

Epidermolytical Hyperkeratosis or Bullous Congenital Ichthyosiform
Erythroderma is an autosomal dominant inherited disorder with onset at birth.
It is characterized by thick warty scales on most of the body, especially in
the creases of bent (flexural) skin surfaces.  Blisters may also occur.

Therapies:  Standard

Ichthyosis Congenita is treated by applying skin softening (emollient)
ointments, preferably plain petroleum jelly, especially after bathing while
the skin is still moist.  A particularly effective ointment is salicylic acid
in a gel composed of propylene glycol, ethyl alcohol, hydroxypropylene
cellulose and water.  The skin should be covered at night with an airtight
and waterproof dressing when this ointment is used.

Ointments such as fifty percent propylene glycol in water, hydrophilic
petroleum jelly and water, or cold cream are also helpful.  Tretinoin
(vitamin A acid; retinoic acid) cream also can be effective as well in
treating Ichthyosis Congenita.

Therapies:  Investigational

Tests are being performed with simple local application of cholesterol and of
drugs to hydrolyze the cholesterol sulfate bond.  More research is needed
before the effectiveness of this treatment can be determined.

The National Institute of Arthritis, Musculoskeletal and Skin Diseases is
looking for patients with various kinds of Ichthyosis willing to participate
in research aimed at mapping the genes responsible for their disorder.
Interested persons may contact:

     Dr. Sherri Bale
     National Institute of Arthritis, Musculoskeletal and Skin Diseases
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

The orphan product Monolaurin (Glylorin) is being tested for treatment of
Ichthyosis Congenita.  The product is manufactured by:

     Cellegy Pharmaceuticals, Inc.
     371 Bel Marin Keys, Suite 210
     Novato, CA  94949

This disease entry is based upon medical information available through
May 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 Ichthyosis Congenita, please contact:

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

     Foundation for Ichthyosis and Related Skin Types, Inc. (F.I.R.S.T.)
     P.O. Box 20921
     Raleigh, NC  27619-0921
     [phone]
     [phone]

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

     The Eczema Association for Science and Education
     1221 SW Yamhill, #303
     Portland OR,  97205
     [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

THE MERCK MANUAL 15th ed:  R. Berkow, et al:  eds; Merck, Sharp & Dohme
Research Laboratories, 1987.  Pp. 2294-5.

CECIL TEXTBOOK OF MEDICINE, 18th ed.:  James B. Wyngaarden, and Lloyd H.
Smith, Jr., Eds.:  W. B. Saunders Co., 1988.  Pp. 2326-9.