home
***
CD-ROM
|
disk
|
FTP
|
other
***
search
/
CD-ROM Today (UK) (Spanish) 15
/
CDRT.iso
/
dp
/
0387
/
03870.txt
next >
Wrap
Text File
|
1994-01-17
|
10KB
|
227 lines
$Unique_ID{BRK03870}
$Pretitle{}
$Title{Ichthyosis, Keratosis Follicularis Spinulosa Decalvans}
$Subject{Ichthyosis, Keratosis Follicularis Spinulosa Decalvans Disorder of
Cornification 24 DOC 24 Siemens Syndrome Ichthyosis Ichthyosis Congenita
X-Linked Ichthyosis Keratitis Ichthyosis Deafness Syndrome }
$Volume{}
$Log{}
Copyright (C) 1988, 1989, 1992, 1993 National Organization for Rare
Disorders, Inc.
540:
Ichthyosis, Keratosis Follicularis Spinulosa Decalvans
** IMPORTANT **
It is possible that the main title of this article (Keratosis
Follicularis Spinulosa Decalvans) is not the name you expected. Please check
the SYNONYM list to find the alternate names and disorder subdivisions
covered by this article.
Synonyms
Disorder of Cornification 24
DOC 24
Siemens Syndrome
Information on the following disorders can be found in the Related
Disorders section of this report:
Ichthyosis
Ichthyosis Congenita
X-Linked Ichthyosis
Keratitis Ichthyosis Deafness Syndrome
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.
Keratosis Follicularis Spinulosa Decalvans is a rare skin disorder. The
disorder is characterized by hardening of the skin (keratosis) around the
hair follicles, leading to progressive scarring and baldness (alopecia).
Symptoms
Keratosis Follicularis Spinulosa Decalvans is a form of Ichthyosis, a group
of scaly skin disorders. It is characterized by hardening of the skin around
the hair follicles. This usually leads to scarring and baldness. Allergic
reactions (atopy), reduced tolerance of bright light (photophobia), and
inflammation of the eye's cornea (keratitis) can also occur.
Causes
Keratosis Follicularis Spinulosa Decalvans is thought to be inherited as a
sex-linked dominant trait. (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 other normal gene and resulting in
appearance of the disease. Sex-linked (X-linked) 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 50 percent risk of transmitting the carrier condition to their daughters,
and a 50 percent chance of transmitting the disease to their sons.) In the
case of this disorder, carriers (females) have a milder form of the disorder
than males.
Affected Population
Keratosis Follicularis Spinulosa Decalvans is a rare disorder affecting males
more severely than females.
Related Disorders
Symptoms of the following disorders may be similar to those of Keratosis
Follicularis Spinulosa Decalvans. 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. (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 affecting males, which
is 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.)
Keratitis Ichthyosis Deafness (KID) Syndrome is a very rare disorder,
thought to be inherited. It is characterized by inflammation of the eye's
cornea (keratitis), fixed hardened skin scales (plaques) on the extremities
and face, thick hardened skin on the palms of the hands and the soles of the
feet, and deafness. (For more information, choose "Keratitis" 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.)
Therapies: Standard
Keratosis Follicularis Spinulosa Decalvans 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 Ichthyosis, 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
Keratitis Follicularis Spinulosa Decalvans. The product is manufactured by:
Cellegy Pharmaceuticals, Inc.
371 Bel Marin Keys, Suite 210
Novato, CA 94949
This disease entry is based on 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 Keratosis Follicularis Spinulosa Decalvans, 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, 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
TRICHOSTASIS SPINULOSA: M.C. Young, et al.; Int Journal Dermatol (November
1985: issue 24(9)). Pp. 575-580.
KERATOSIS SPINULOSA DECALVANS. REPORT OF TWO CASES AND LITERATURE
REVIEW: Arch Dermatol (January 1983: issue 119(1)). Pp. 22-26.
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.