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$Unique_ID{BRK04075}
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$Title{Pachydermoperiostosis}
$Subject{Pachydermoperiostosis Hypertrophic Osteoarthropathy
Pachydermoperiostosis Syndrome Touraine-Solente-Gole Syndrome
Rosenfeld-Kloepfers Syndrome Acromegaly Hypertrophic Pulmonary
Osteoarthropathy}
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Copyright (C) 1992 National Organization for Rare Disorders, Inc.

927:
Pachydermoperiostosis

** IMPORTANT **
It is possible that the main title of the article (Pachydermoperiostosis)
is not the name you expected.  Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

     Hypertrophic Osteoarthropathy
     Pachydermoperiostosis Syndrome
     Touraine-Solente-Gole Syndrome

Disorder Subdivision:

     Rosenfeld-Kloepfers Syndrome

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

     Acromegaly
     Hypertrophic Pulmonary Osteoarthropathy

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.

Pachydermoperiostosis is a rare disorder thought to be inherited as an
autosomal dominant trait.  This disorder typically appears during childhood
or adolescence and progresses slowly for about ten years.  Symptoms of
Pachydermoperiostosis may be enlargement of the fingers and toes (clubbing),
a condition in which there is a fibrous covering on the ends of the long
bones (periostosis), coarse facial features, increased bulk of the skin on
the scalp forming folds, depressions or furrows (cutis verticis gyrata),
and/or excessive sweating of the hands and feet.

Symptoms

Patients with Pachydermoperiostosis typically have coarse facial features
with oily, thick, grooving skin on the face.  Joint pain, an abnormal
enlargement of the tips of the fingers and toes (clubbing), and excessive
sweating of the hands and feet (hyperhidrosis) may also be present.

New fibrous bone growth (periostosis), especially of the ends of the long
bones, is present in patients with Pachydermoperiostosis.  A condition in
which the skin of the scalp has excess bulk causing depressions or grooves
(cutis verticis gyrata) typically becomes apparent during the teen years.

Other symptoms found in some patients with Pachydermoperiostosis may be:
swelling or pain of the large joints; drooping eyelids (ptosis); a long-term
inflammatory skin disease that causes dry or moist, scales and a yellowish
crust (seborrheic dermatitis); disorders such as ulcers; and/or swelling of
hair follicles related to large open pores of the skin.

The symptoms in patients with Pachydermoperiostosis vary in severity with
males typically having a more severe form of the disorder.

A variant of Pachydermoperiostosis is called Rosenfeld-Kloepfer Syndrome.
This form of the disorder is characterized by enlarged bones of the jaw, and
very large hands, feet, nose, lips and tongue.  Other features of this form
of the disorder are:  a prominent upper forehead, grooves or depressions in
the skin of the scalp (cutis verticis gyrata) and a dense white opacity in
the corner of the eye (corneal leukoma).

Causes

Pachydermoperiostosis is thought to be inherited as an autosomal dominant
trait with varying severity.  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 the 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

Pachydermoperiostosis is a rare disorder that affects males more often than
females with a ratio of seven to one.  This percentage may not be totally
valid since females often have mild symptoms with the fibrous bone growth
(periostosis) not being detected unless an X-ray is taken.

Related Disorders

Symptoms of the following disorders can be similar to those of
Pachydermoperiostosis.  Comparisons may be useful for a differential
diagnosis:

Acromegaly is a slowly progressive, chronic metabolic disorder in which
an excess of growth hormone causes abnormal enlargement of various tissues of
the body and unusual height.  Most conspicuously affected are the arms, legs,
jaws and face.  The enlargement of soft tissue, especially of the heart, is a
serious feature of this disorder.  High blood pressure may be another serious
consequence of Acromegaly.  (For more information on this disorder choose
"Acromegaly" as your search term in the Rare Disease Database).

Hypertrophic Pulmonary Osteoarthropathy (Bamberger-Marie Disease) is a
rare disorder in which there is expansion of the ends or the entire shaft of
the long bones and often abnormal enlargement of the fingers and toes
(clubbing).  This disorder occurs in chronic pulmonary disease, heart disease
and occasionally in other acute and chronic disorders.

Therapies:  Standard

Patients with Pachydermoperiostosis may have improvement in joint pain and
swelling when a vagotomy is performed.  A vagotomy is a surgical procedure in
which certain branches of the vagus nerve (a nerve essential for the
functioning of many body parts) are cut along with stomach surgery, to lessen
the amount of gastric acid released and thus reduce the chance of getting a
gastric ulcer.

Plastic surgery may be performed to improve facial appearance.

Genetic counseling may be of benefit for patients and their families.
Other treatment is symptomatic and supportive.

Therapies:  Investigational

Research on birth defects and their causes is ongoing.  The National
Institutes of Health (NIH) is sponsoring the Human Genome Project which is
aimed at mapping every gene in the human body and learning why they sometimes
malfunction.  It is hoped that this new knowledge will lead to prevention and
treatment of genetic disorders in the future.

This disease entry is based upon medical information available through
August 1992.  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 Pachydermoperiostosis, please contact:

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

     National Arthritis and Musculoskeletal and Skin Diseases Information
     Clearinghouse
     Box AMS
     9000 Rockville Pike
     Bethesda, MD  20892
     [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, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 702.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.:  Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988.  Pp. 488.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 1349-50.