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$Unique_ID{BRK03861}
$Pretitle{}
$Title{Ichthyosis Hystrix, Curth-Macklin Type}
$Subject{Ichthyosis Hystrix, Curth-Macklin Type Disorder of Cornification 8,
Curth-Macklin Type DOC 8, Curth-Macklin Type Ichthyosis Ichthyosis Congenita
X-Linked Ichthyosis }
$Volume{}
$Log{}
Copyright (C) 1988, 1989, 1991, 1992, 1993 National Organization for Rare
Disorders, Inc.
547:
Ichthyosis Hystrix, Curth-Macklin Type
** IMPORTANT **
It is possible the main title of the article (Ichthyosis Hystrix) is not
the name you expected. Please check the SYNONYMS listing on the next page to
find alternate names and disorder subdivisions covered by this article.
Synonyms
Disorder of Cornification 8, Curth-Macklin Type
DOC 8, Curth-Macklin Type
Information on the following disorders can be found in the Related
Disorders section of this report:
Ichthyosis
Ichthyosis Congenita
X-Linked Ichthyosis
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 Hystrix, Curth-Macklin Type, is a rare inherited skin
disorder. It is characterized by scaling skin (ichthyosis) ranging from mild
to severe. Thick, horny skin (keratoderma) on the palms of the hands and the
soles of the feet may occur with no other symptoms, or the whole body surface
may be covered with scales.
Symptoms
Ichthyosis Hystrix, Curth-Macklin Type, is characterized by abnormally thick,
hard skin on the soles of the feet and the palms of the hands. Symptoms may
range from thick, horny skin to widespread overdevelopment and loss of water
in the cells in the outer layers of the skin (cornification). With
treatment, the thickness of this horny layer can be considerably reduced.
Under a microscope, numerous cells (corneocytes) are found with 2 nuclei, and
prominent shells around the nuclei are evident in the granular cells of the
skin.
Causes
Ichthyosis Hystrix, Curth-Macklin Type, is an inherited disorder, transmitted
by autosomal 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 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
Ichthyosis Hystrix, Curth Macklin Type, is a rare disorder beginning at
birth. It affects males and females in equal numbers.
Related Disorders
Symptoms of the following disorders may be similar to those of Ichthyosis
Hystrix, Curth Macklin Type. Comparisons can be useful for a differential
diagnosis:
"Ichthyoses" 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
the 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. (See "Ichthyosis" 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 caused by a deficiency
of the enzyme steroid sulfatase. This enzyme deficiency leads to biochemical
alterations in the steroid sex 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, Lamellar Ichthyosis, Refsum Syndrome, Darier Disease, Conradi-
Hunermann Syndrome, Chanarin-Dorfman Syndrome, and Epidermolytic
Hyperkeratosis. (Search under each name for more information on that
disorder in the Rare Disease Database.)
Therapies: Standard
Ichthyosis Hystrix, Curth-Macklin Type, 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 also be effective against symptoms of Ichthyosis Hystrix, but
can have 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 (FAD) 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
Ichthyosis Hystrix, Curth-Macklin Type. 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 Hystrix, 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 genetic information and genetic counseling referrals, please 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.
ICHTHYOSIS HYSTRIX (CURTH-MACKLIN). LIGHT AND ELECTRON MICROSCOPIC
STUDIES PERFORMED BEFORE AND AFTER ETRETINATE TREATMENT: L. Kanerva, et al.;
Arch Dermatol (September 1984: issue 120(9)). Pp. 1218-1223.
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.
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A. McKusick; Johns
Hopkins University Press. P. 411.