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$Unique_ID{BRK03865}
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$Title{Ichthyosis, Erythrokeratodermia Progressiva Symmetrica}
$Subject{Ichthyosis, Erythrokeratodermia Progressiva Symmetrica DOC 20
Disorder of Cornification 20 ECPSG Erythrokeratodermia Congenitalis
Progressiva Symmetrica Gottron Gottron's Erythrokeratodermia Congenitalis
Progressiva Symmetrica Ichthyosis Ichthyosis Congenita X-Linked Ichthyosis
Psoriasis }
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Copyright (C) 1988, 1989, 1992, 1993 National Organization for Rare
Disorders, Inc.

556:
Ichthyosis, Erythrokeratodermia Progressiva Symmetrica

** IMPORTANT **
It is possible that the main title of this article (Erythrokeratodermia
Progressiva Symmetrica) is not the name you expected.  Please check the
SYNONYM list to find the alternate names and disorder subdivisions covered by
this article.

Synonyms

     DOC 20
     Disorder of Cornification 20
     ECPSG
     Erythrokeratodermia Congenitalis Progressiva Symmetrica Gottron
     Gottron's Erythrokeratodermia Congenitalis Progressiva Symmetrica

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

     Ichthyosis
     Ichthyosis Congenita
     X-Linked Ichthyosis
     Psoriasis

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 physician and/or the agencies listed in the "Resources" section
of this report.


Erythrokeratodermia Progressiva Symmetrica is a rare hereditary skin
disorder characterized by red hardened (keratotic) plaques with clear limits.
These plaques are distributed symmetrically on the surface of both sides of
the body, as well as on the head, buttocks, and extremities.  The lesions
first appear during infancy.  This disorder is a form of Ichthyosis, a group
of rare hereditary disorders characterized by scaly skin.

Symptoms

Erythrokeratodermia Progressiva Symmetrica is a rare form of ichthyosis, a
group of skin disorders characterized primarily by scaly skin.  Usually, this
disorder stabilizes after 1 to 2 years, and partially regresses during
puberty.  This disorder is characterized by red hardened plaques with clear
limits.  Skin plaques are distributed symmetrically on the head, buttocks,
legs and arms.  The palms of the hands and the soles of the feet may be
involved.  The lesions may be itchy (pruritic).

Causes

Erythrokeratodermia Progressiva Symmetrica is a hereditary disorder
transmitted through either autosomal recessive or dominant genes.

(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 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 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 25 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 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.)

Affected Population

Erythrokeratodermia Progressiva Symmetrica affects males and females in equal
numbers.  It is a rare skin condition.

Related Disorders

Symptoms of the following disorders may be similar to those of
Erythrokeratodermia Progressiva Symmetrica.  Comparisons can be useful for a
differential diagnosis:

"Ichthyosis" or "Disorders of Cornification" are general terms describing
a group of scaly skin disorders.  They are characterized by an abnormal
accumulation of large amounts of dead skin cells (squames) in the top layer
of the skin.  The conversion of an abnormally large number of epidermal cells
into squamous cells is thought to be caused by a defect in the metabolism of
skin cells known as "corneocytes" or of the fat-rich matrix around these
cells.  The cells can be thought of as bricks, while the matrix would be the
mortar holding these cells together.  (For more information, choose
"Ichthyosis"  as your search term in the Rare Disease Database.)

Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform
Erythroderma; Xeroderma; Desquamation of Newborn) is an inherited skin
disorder.  It is characterized by generalized, abnormally red, dry and rough
skin, with large, coarse scales.  Itchiness (pruritus) usually also develops.
Skin on the palms of the hands and soles of the feet is abnormally thick.
(For more information, choose "Ichthyosis Congenita" as your search term in
the Rare Disease Database.)

X-Linked Ichthyosis is an inherited skin disorder affecting males, caused
by a deficiency of the enzyme steroid sulfatase.  This enzyme deficiency
leads to biochemical alterations in steroid hormone metabolism and
cholesterol sulfate may accumulate in the blood and skin.  (For more
information, choose "X-Linked Ichthyosis" as your search term in the Rare
Disease Database.)

Other forms of Ichthyosis include Sjogren-Larsson Syndrome, Netherton
Syndrome, Ichthyosis Hystrix, Lamellar Ichthyosis, Refsum Syndrome, Darier
Disease, Conradi-Hunermann Syndrome, Chanarin-Dorfman Syndrome, and
Epidermolytic Hyperkeratosis.  (Choose the appropriate name as your search
term for more information on that disorder in the Rare Disease Database.)

Psoriasis is a common chronic and recurrent skin disorder characterized
by dry, well-circumscribed silvery gray scaling spots (papules) or plaques
which usually appear on the scalp, elbows, or knees.  (For more information,
choose "Psoriasis" as your search term in the Rare Disease Database.)

Therapies:  Standard

Erythrokeratodermia Progressiva Symmetrica is treated by applying skin
softening (emollient) ointments, preferably plain petroleum jelly.  This can
be especially effective after bathing while the skin is still moist.
Salicylic acid gel is another particularly effective ointment.  The skin
should be covered at night with an airtight, waterproof dressing when this
ointment is used.  Lactate lotion can also be an effective treatment for this
disorder.

Therapies:  Investigational

Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and
etretinate can be effective against symptoms of Erythrokeratodermia
Progressiva Symmetrica, but can cause toxic effects on the bones in some
cases.  A synthetic derivative of Vitamin A, isotretinoin, when taken by
pregnant women, can cause severe birth defects to the fetus.  These Vitamin A
compounds have not yet been approved by the Food and Drug Administration
(FDA) for treatment of Ichthyosis.

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
Erythrokeratodermia Progressiva Symmetrica.  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 Erythrokeratodermia Progressiva Symmetrica, 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]

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

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

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

References

GENETICALLY TRANSMITTED, GENERALIZED DISORDERS OF CORNIFICATION.  THE
ICHTHYOSES:  M.L.  Williams, et al.; Dermatol Clin (January 1987:  issue
5(1)).  Pp. 155-178.

THERAPEUTIC ACTIVITY OF LACTATE 12% LOTION IN THE TREATMENT OF
ICHTHYOSIS.  ACTIVE VERSUS VEHICLE AND ACTIVE VERSUS A PETROLEUM CREAM:  M.
Buxman, et al.; Journal Am Acad Dermatol (December 1986:  issue 15(6)).  Pp.
1253-1258.

THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.:  John B. Stanbury, et
al., eds.; McGraw Hill, 1983.  Pp. 1027-1039.

PROGRESSIVE SYMMETRIC ERYTHROKERATODERMIA.  HISTOLOGICAL AND
ULTRASTRUCTURAL STUDY OF PATIENT BEFORE AND AFTER TREATMENT WITH ETRETINATE:
V. Nazzaro, et al.; Arch Dermatol (April 1986:  issue 122(4)).  Pp. 434-440.