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$Unique_ID{BRK03863}
$Pretitle{}
$Title{Ichthyosis, Chanarin Dorfman Syndrome}
$Subject{Ichthyosis, Chanarin Dorfman Syndrome Chanarin Dorfman Disease
Disorder of Cornification 12 (Neutral Lipid Storage Type) DOC 12 (Neutral
Lipid Storage Type) Dorfman Chanarin Syndrome Ichthyosiform Erythroderma with
Leukocyte Vacuolation Ichthyotic Neutral Lipid Storage Disease Neutral Lipid
Storage Disease Triglyceride Storage Disease, with Impaired Long-Chain Fatty
Acid Oxidation Ichthyosis Ichthyosis Congenita CHILD Syndrome (Congenital
Hemidysplasia with Ichthyosiform erythroderma and Limb Defects; Ichthyosiform
Erythroderma, Unilateral, with Ipsilateral Malformations, especially Absence
Deformity of Limbs)}
$Volume{}
$Log{}
Copyright (C) 1988, 1989, 1992, 1993 National Organization for Rare
Disorders, Inc.
548:
Ichthyosis, Chanarin Dorfman Syndrome
** IMPORTANT **
It is possible the main title of the article (Chanarin-Dorfman Syndrome)
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
Chanarin Dorfman Disease
Disorder of Cornification 12 (Neutral Lipid Storage Type)
DOC 12 (Neutral Lipid Storage Type)
Dorfman Chanarin Syndrome
Ichthyosiform Erythroderma with Leukocyte Vacuolation
Ichthyotic Neutral Lipid Storage Disease
Neutral Lipid Storage Disease
Triglyceride Storage Disease, with Impaired Long-Chain Fatty Acid
Oxidation
Information on the following disorders can be found in the Related
Disorders section of this report:
Ichthyosis
Ichthyosis Congenita
CHILD Syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma
and Limb Defects; Ichthyosiform Erythroderma, Unilateral, with Ipsilateral
Malformations, especially Absence Deformity of Limbs).
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.
Chanarin Dorfman Syndrome is a rare hereditary disorder of fat (lipid)
metabolism. It is characterized by scaly skin (ichthyosis), degeneration of
the muscles (myopathy), and abnormal white blood cells with small spaces
(vacuoles) filled with fat (lipids).
Symptoms
Chanarin Dorfman Syndrome is characterized by moderately red, itchy, dry skin
and other skin changes (eczematous dermatitis). Prominent fat (lipid)
droplets appear in most circulating white blood cells. Lipid droplets are
also present in numerous other cells, including those of the skin and the
ducts of sweat glands.
Degeneration of the muscles may be identified through neurologic testing,
and muscle enzyme levels in the blood are elevated. The liver biopsy samples
of all patients have shown severe fatty change, but this may not be reflected
in liver function studies. Both nerve deafness and cataracts are present in
some patients with Chanarin Dorfman Syndrome. Abnormally slow development
and growth may also be symptoms of this disorder.
Causes
Chanarin Dorfman Syndrome is a hereditary disorder transmitted by autosomal
recessive genes. The metabolic defect causing this disorder is not well
understood. (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.)
Affected Population
Chanarin Dorfman Syndrome is a very rare disorder which tends to affect
persons of Middle Eastern or Mediterranean descent. It affects males and
females in equal numbers.
Related Disorders
Symptoms of the following disorders can be similar to those of Chanarin
Dorfman Syndrome. Comparisons may 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
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.)
CHILD Syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma
and Limb Defects; Ichthyosiform Erythroderma, Unilateral, with Ipsilateral
Malformations, especially Absence Deformity of Limbs) is a rare, hereditary
disorder characterized by scaly red skin (ichthyosis) and deformities of the
limbs on one side of the body. It occurs much more frequently in males than
in females.
Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform
Erythroderma; Desquamation of Newborn) is an inherited skin disorder. It is
characterized by generalized, abnormally red (erythroderma), dry and rough
skin with large, coarse scales. Itchiness 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.)
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 in the Rare Disease Database).
Therapies: Standard
Diagnosis of Chanarin Dorfman Syndrome can be made when a smear of blood
taken from a finger, toe, heel, or ear shows fat droplets in certain white
blood cells. Dermatologic symptoms are 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.
Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide,
and etretinate can be effective against skin symptoms of Chanarin Dorfman
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.
Treatment of other features of Chanarin Dorfman Syndrome is symptomatic
and supportive.
Therapies: Investigational
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
Chanarin Dorfman 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 Chanarin Dorfman Syndrome
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.
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.
MENDELIAN INHERITANCE IN MAN, 7th ed.: Victor A McKusick; Johns Hopkins
University Press, 1986. Pp. 1285-1286.
DORFMAN-CHANARIN SYNDROME. A CASE REPORT AND A REVIEW: A. Srebrnik, et
al.; Journal Am Acad Dermatol (November 1987: issue 17(5 Pt 1)). Pp. 801-
808.