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$Unique_ID{BRK04166}
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$Title{Rapp-Hodgkins Syndrome}
$Subject{Rapp-Hodgkins Syndrome RHS Dominant Hypohidrotic Ectodermal Dysplasia
Zanier-Roubicek Syndrome Jorgenson's Syndrome Hallermann-Streiff Syndrome
Johanson-Blizzard Syndrome Christ-Siemens-Touraine Syndrome}
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Copyright (C) 1989 National Organization for Rare Disorders, Inc.

715:
Rapp-Hodgkins Syndrome

** IMPORTANT **
It is possible that the main title of the article (Rapp-Hodgkins
Syndrome) is not the name you expected.  Please check the SYNONYM listing to
find the alternate names and disorder subdivisions covered by this article.

Synonyms

     RHS
     Dominant Hypohidrotic Ectodermal Dysplasia

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

     Zanier-Roubicek Syndrome
     Jorgenson's Syndrome
     Hallermann-Streiff Syndrome
     Johanson-Blizzard Syndrome
     Christ-Siemens-Touraine 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 personal physician and/or the agencies listed in the "Resources"
section of this report.

Rapp-Hodgkins Syndrome is one of a group of rare genetic skin disorders
known as the Ectodermal Dysplasias.  Major symptoms may include absence of
the ability to sweat in combination with cleft lip and palate, dental
abnormalities and lack of hair.

Symptoms

In the Rapp-Hodgkins Syndrome the patient may or may not be able to sweat.
If they are able to sweat it is not at a normal rate, which can cause the
patient to easily become overheated (Hyperthermia).

The patient usually has a cleft lip, cleft palate, an absence of or
abnormal development of teeth, and an absence of scalp hair and eyebrows.
The patient's eyes may be unusually sensitive to light, and have corneal
opacities and other eye defects with a tendency to develop eye infections.
The ears may be large and malformed, and prone to repeated infections.  There
may be associated hearing and speech problems.

The Rapp-Hodgkins patient may also be of a short stature and have joined
fingers or toes.  The opening of the urethra may be below the normal opening
in the vagina or penis.  The nails of the fingers and toes may not develop
normally.  The face may have a low nasal bridge, a narrow nose,
underdeveloped jaw and high forehead.

Causes

Rapp-Hodgkins Syndrome is the result of autosomal dominant inheritance.
Human traits, including the classic genetic diseases, are the product of the
interaction of two genes, 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.  The risk of
transmitting the disorder from affected parent to offspring is fifty percent
for each pregnancy regardless of the sex of the resulting child.

Affected Population

Rapp-Hodgkins Syndrome is a rare disease affecting males and females in equal
numbers.

Related Disorders

Symptoms of the following disorders can be similar to those of Rapp-Hodgkins
Syndrome.  Comparisons may be useful for a differential diagnosis:

Zanier-Roubicek Syndrome is a form of Ectodermal Dysplasia which is often
associated with severe overheating because of the inability to sweat.  There
is usually normal sweating, however, on the palms and soles.  The patient
usually shows a lack of hair on the head but normal eyebrows and eyelashes.
Patients have fewer than the normal number of teeth with yellow discoloration
of the ones that are present.  The finger and toe nails are brittle.  A lack
of tearing of the eyes may also occur, as well as underdevelopment of the
breasts.  The syndrome is transmitted as an autosomal recessive trait.
Intelligence is usually normal.

Jorgenson's Syndrome is another form of ectodermal dysplasia
characterized by the inability to sweat properly, a lack of hair and tooth
growth, and unusual skin problems.  These patients do sweat but the amount is
very slight.  There is lack of growth of eyebrows and eyelashes, and the
patient is usually bald by the teen years.  The skin is dry with fine
fingerprints (dermal ridges) on the hands and feet.  There are abnormal
amounts of cavities in the baby teeth and a lack of development of some of
the permanent teeth.  The patient usually has a long, thin nose, thin upper
lip and a long space between the nose and mouth (philtrum).

Hallermann-Streiff Syndrome is an autosomal recessive form of Ectodermal
Dysplasia.  It is characterized by a lack of hair on the head and tooth
abnormalities.  There may be too many teeth, failure of baby teeth to fall
out, and a lack of tooth enamel.  Patients have similar faces with narrow,
small, pointed noses, small jaws, small mouth with thin lips, a short head
and bulging of the forehead.  Eye problems may include cataracts, crossed
eyes, and blue coloring in the whites of the eyes.  There may be a narrow
high-arched palate and a delay in the growth of the bones.  (For more
information on this disorder, choose "Hallermann" as your search term in the
Rare Disease Database).

Johanson-Blizzard Syndrome, another form of ectodermal dysplasia, is
characterized by nose, scalp and hair defects, as well as a lack of teeth,
deafness, short stature, lack of motor development and malabsorption
problems.  The most striking development of this syndrome is the beaklike
appearance of the nose.  Three fourths of the patients have a protrusion over
the rear fontanelle of the skull at birth which gets thick and hard as the
child grows.  Their teeth are peg-shaped and they have thin hair which sweeps
up from the forehead.  The patients show marked hearing loss from birth as
well as motor and mental retardation.  Bone growth is delayed and there may
be associated intestinal, absorption and genital defects.

The form of ectodermal dysplasia known as Christ-Siemens-Touraine
Syndrome is characterized by lack of development of teeth, reduced ability to
sweat resulting in heat intolerance, and loss of hair.  The face may have a
bulging forehead and chin, sunken cheeks, broad flat nose, thick lips and
fine, wrinkled skin around the eyes.  (For more information on these
disorders, choose "Ectodermal Dysplasia" as you search term in the Rare
Disease Database).

Therapies:  Standard

No cure for the underlying causes of Ectodermal Dysplasias are known.
Genetic counseling may be of benefit for Rapp-Hodgkins patients and their
families.  Surgery may be necessary for the repair of cleft lip and palate.
False teeth may be needed in order to eat properly and hearing aids, etc.,
may be required.  Over the counter creams may relieve skin discomfort.  Heat
and excessive exercise should be avoided.  Vaccines and anti-infectious agents
are used to reduce infections of the skin and respiratory tract.  Other
treatment is symptomatic and supportive.

Therapies:  Investigational

The National Institute of Dental Research in Bethesda, MD, is conducting a
research project to evaluate dental treatment of individuals who have
Ectodermal Dysplasias.  Treatment will consist of either conventional
removable dentures or fixed dentures supported by dental implants.  The
project is designed to evaluate the effect of dental implants on such things
as satisfaction with treatment, the ability to chew foods, and maintenance of
the bone that supports the dentures.  To be eligible to participate in this
study, individuals must have one of the ectodermal dysplasias, be missing
several teeth, and be between the ages of twelve and seventy years.  A
complete oral and dental examination will be provided to determine if an
individual qualifies for the five years study.  Financial aid is expected to
be available to help defray travel and lodging expenses for trips to
Bethesda, MD.  For additional information, physicians can contact:

     Albert D. Guckes, M.D.
     Dental Clinic, NIDR
     Bldg. 10, Rm. 6S-255
     National Institutes of Health
     Bethesda, MD 20892
     [phone] or 2944

This disease entry is based upon medical information available through
December 1989.  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 Rapp-Hodgkin's Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     National Foundation for Ectodermal Dysplasias
     108 North First, Suite 311
     Mascoutah, IL 62258
     [phone]

     NIH/National Arthritis and Musculoskeletal and Skin Disease Information
     Clearinghouse
     Box AMS
     Bethesda, MD  20892
     [phone]

     Forward Face
     560 First Ave.
     New York, NY  10016
     [phone]
     (800) 422-FACE

     American Cleft Palate Cranial Facial Association
     1218 Granview Ave.
     Pittsburgh, PA 15211
     [phone]
     (800) 24CLEFT

     National Cleft Palate Association
     2950 Hearne Ave
     Shreveport, LA 71103
     [phone]

For genetic information and genetic counseling referrals:

     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

MENDELIAN INHERITANCE IN MAN, 8th ed.:  Victor A. McKusick; Johns Hopkins
University Press, 1986.  Pp. 215-216.

RAPP-HODGKIN ECTODERMAL DYSPLASIA.  H.W. Schroeder, Jr. et al.; J Pediatr
(January, 1987, issue 110 (1)).  Pp. 72-75.

RAPP-HODGKIN SYNDROME; OBSERVATIONS ON TEN CASES AND CHARACTERISTIC HAIR
CHANGES (PILI CANALICULE).  C.F. Salinas, et al.; Birth Defects (1988, issue
24 (2)).  Pp. 149-168.

RAPP-HODGKIN SYNDROME:  AN ECTODERMAL DYSPLASIA INVOLVING THE TEETH, HAIR,
NAILS, AND PALATE.  REPORT OF A CASE AND REVIEW OF THE LITERATURE.  Oral Surg
Oral Med Oral Pathol (January, 1989, issue 67 (1)).  Pp. 50-62.

DISTINCTIVE HAIR CHANGES (PILI TORTI) IN RAPP-HODGKIN ECTODERMAL
DYSPLASIA SYNDROME.  Clin Genet (May, 1982, issue 21 (5)).  Pp. 297-300.