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$Unique_ID{BRK03873}
$Pretitle{}
$Title{Ichthyosis, Peeling Skin Syndrome}
$Subject{Ichthyosis, Peeling Skin Syndrome Continuing Skin Peeling Syndrome
Disorder of Cornification 21 DOC 21 Ichthyosis Ichthyosis Congenita X-Linked
Ichthyosis Psoriasis }
$Volume{}
$Log{}
Copyright (C) 1988, 1989, 1992, 1993 National Organization for Rare
Disorders, Inc.
575:
Ichthyosis, Peeling Skin Syndrome
** IMPORTANT **
It is possible that the main title of this article (Peeling Skin
Syndrome) is not the name you expected. Please check the SYNONYM list to
find the alternate names and disorder subdivisions covered by this article.
Synonyms
Continuing Skin Peeling Syndrome
Disorder of Cornification 21
DOC 21
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.
Peeling Skin Syndrome is a rare hereditary disorder characterized by the
periodic shedding of the outer layer of the skin. Redness, itching and other
features may also occur.
Symptoms
Patients with Peeling Skin Syndrome have skin that is thicker than normal.
The disorder is characterized by the periodic shedding of the outer layer of
the skin (stratum corneum). Redness (erythroderma) and itching (pruritus)
may also occur. In some cases, newly formed hair can be plucked more easily
than normal. Some patients with Peeling Skin Syndrome have short stature.
Causes
Peeling Skin Syndrome is a form of Ichthyosis, which is a group of hereditary
skin disorders. This form of Ichthyosis is transmitted by autosomal
recessive 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.)
Affected Population
Peeling Skin Syndrome affects males and females in equal numbers. It is a
rare hereditary disorder.
Related Disorders
Symptoms of the following disorders may be similar to those of Peeling Skin
Syndrome. 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. 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
Peeling Skin Syndrome 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 Peeling Skin Syndrome, 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
(301) 402-2679
The orphan product Monolaurin (Glylorin) is being tested for treatment of
Peeling Skin Syndrome. 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 Peeling Skin Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
Foundation for Ichthyosis and Related Skin Types, Inc. (F.I.R.S.T.)
P.O. Box 20921
Raleigh, NC 27619-0921
(919) 782-5728
(800) 545-3286
The National Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Information Clearinghouse
Box AMS
Bethesda, MD 20892
(301) 495-4484
For information on genetics and genetic counseling referrals, contact:
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
(914) 428-7100
Alliance of Genetic Support Groups
35 Wisconsin Circle, Suite 440
Chevy Chase, MD 20815
(800) 336-GENE
(301) 652-5553
References
GENETICALLY TRANSMITTED, GENERALIZED DISORDERS OF CORNIFICATION. THE
ICHTHYOSES: M.L. Williams, et al.; Dermatol Clin (January 1987: issue 5(1)).
Pp. 155-178.
THE METABOLIC BASIS OF INHERITED DISEASE, 5th ed.: John B. Stanbury, et
al., eds.; McGraw Hill, 1983. Pp. 1027-1039.
CONTINUAL SKIN PEELING SYNDROME: AN ELECTRON MICROSCOPIC STUDY: A.K.
Silverman, et al; Arch Dermatol (January 1986: issue 122(1)). Pp. 71-75.
PEELING SKIN SYNDROME: A CLINICAL, ULTRASTRUCTURAL AND BIOCHEMICAL
STUDY: British Journal Dermatol (January 1987: issue 116(1)). Pp. 117-125.