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$Unique_ID{BRK03872}
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$Title{Ichthyosis, Netherton Syndrome}
$Subject{Ichthyosis, Netherton Syndrome Disorder of Cornification 9
(Netherton's Type) Netherton Disease Ichthyosis Ichthyosis Congenita
(Collodion Baby; Congenital Ichthyosiform Erythroderma; Xeroderma;
Desquamation of Newborn) X-Linked Ichthyosis }
$Volume{}
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Copyright (C) 1988, 1989, 1993 National Organization for Rare Disorders,
Inc.

553:
Ichthyosis, Netherton Syndrome

** IMPORTANT **
It is possible the main title of the article (Netherton 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

     Disorder of Cornification 9 (Netherton's Type)
     Netherton Disease

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

     Ichthyosis
     Ichthyosis Congenita (Collodion Baby; Congenital Ichthyosiform
Erythroderma; Xeroderma; Desquamation of Newborn)
     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.


Netherton Syndrome is a rare hereditary skin disorder occurring almost
exclusively in females.  This disorder is characterized by scaling of the
skin in a distinctive circular pattern (ichthyosis linearis circumflexa).
Symptoms affecting the hair include hair shafts held back in the hair root

(trichorrhexis invaginata) or a fragile hair condition, called "bamboo hair".
Both skin and hair abnormalities are caused by conversion of an abnormally
large amount of epidermal skin cells into dead cells (cornification).
Another characteristic of Netherton Syndrome is a predisposition to allergies
such as asthma, or food allergies which cause skin eruptions.

Symptoms
Netherton Syndrome may be diagnosed at birth by the presence of generalized
redness of the skin, and a parchment-like membrane (collodion baby) that can
be peeled off the skin.  Later, abnormal thickening of the outer layer of the
skin (hyperkeratosis) occurs in combination with shedding of scales.  This
results in circular reddish patches on the skin with distinctive double-edged
scales along the margins (ichthyosis linearis circumflexa).

Itching may be present in different degrees of severity, ranging from
mild to severe.  Unusually deep skin markings around shiny quadrangles
(lichenification) on one side of the arms and legs may occur as a
manifestation of the skin allergy associated with Netherton Syndrome.  The
skin of the face and scalp is often affected.  Instead of the circular
pattern of scaly skin, some patients have a skin rash that resembles a form
of lamellar ichthyosis.  (For more information on this type of ichthyosis,
choose "Lamellar Ichthyosis" as your search term in the Rare Disease
Database.)

Symptoms affecting the hair which are characteristic of Netherton
Syndrome include a hair shaft abnormality (trichorrhexis invaginata) which is
resembles a ball of yarn stuck in a socket.  Kinky hairs (pili torti) or
hair with fragile nodes (trichorrhexis nodosa) may also develop.

Causes

Netherton Syndrome is a hereditary disorder transmitted through 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
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

Netherton Syndrome is a rare disorder affecting females almost exclusively.

Related Disorders

"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.)

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 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, Ichthyosis
Hystrix, 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

Skin symptoms of Netherton Syndrome 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.

Foods that are known to cause an allergic skin reaction in a specific
patient should be avoided.

Therapies:  Investigational

Drugs derived from Vitamin A (retinoids) such as tretinoin, motretinide, and
etretinate are often effective against dermatologic symptoms of Netherton
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 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
Netherton 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 Netherton Syndrome, 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 genetic information and genetic counseling referrals, please contact:

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

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

References

NETHERTON'S SYNDROME.  REPORT OF A CASE AND REVIEW OF THE LITERATURE:  S.L.
Greene, et al.; Journal Am Acad Dermatol (August 1985:  issue 13(2 Pt 2)).
Pp. 329-337.

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.

MENDELIAN INHERITANCE IN MAN, 7th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  Pp. 1156-1157.