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$Unique_ID{BRK03746}
$Pretitle{}
$Title{Focal Dermal Hypoplasia}
$Subject{Focal Dermal Hypoplasia Combined Mesoectodermal Dysplasia DHOF
Ectodermal and Mesodermal Dysplasia Congenital Ectodermal and Mesodermal
Dysplasia with Osseous Involvement FDH FODH Focal Dermal Dysplasia Syndrome
Focal Dermato-Phalangeal Dysplasia Goltz-Gorlin Syndrome Goltz Syndrome
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome Ectodermal Dysplasias
Oculocerebrocutaneous Syndrome}
$Volume{}
$Log{}

Copyright (C) 1992 National Organization for Rare Disorders, Inc.

926:
Focal Dermal Hypoplasia

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

Synonyms

     Combined Mesoectodermal Dysplasia
     DHOF
     Ectodermal and Mesodermal Dysplasia, Congenital
     Ectodermal and Mesodermal Dysplasia with Osseous Involvement
     FDH
     FODH
     Focal Dermal Dysplasia Syndrome
     Focal Dermato-Phalangeal Dysplasia
     Goltz-Gorlin Syndrome
     Goltz Syndrome

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

     Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome
     Ectodermal Dysplasias
     Oculocerebrocutaneous 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.

Focal Dermal Hypoplasia is a rare form of ectodermal dysplasia that is
thought to be inherited as an X-linked dominant genetic trait with lethality
in males.  It is found primarily in females.  This disorder is characterized
by skin abnormalities in which there are underdeveloped areas of skin that
form streaks or lines and tumor-like herniations of fat on the skin.
Skeletal, facial, dental, ocular and soft tissue defects are also present.

Symptoms

Focal Dermal Hypoplasia is a rare skin disorder that is one of the ectodermal
dysplasias.  It is characterized by skin lesions that look streaked,
underdeveloped or "punched-out".  Deposits of fat (papillomas) are typically
found on the gums, tongue, lips, vulvae and anus.  There may be inflammation,
itching, reddening, blistering and crusting of the skin.  Skin may be absent,
discolored or lack pigmentation (color) in some areas.  Overgrowth of tissue
may be found on the palms of the hands and soles of the feet.  Excessive
sweating (hyperhidrosis) or absence of sweating (hypohydrosis) is often
present on the palms of the hands and soles of the feet.  The hair may be
sparse, brittle and/or missing.

Eye abnormalities that have been found in some patients with Focal Dermal
Hypoplasia are:  drooping eyelids (ptosis); clouding of the cornea; a cleft
along the edge of the eyeball (coloboma); involuntary rapid movement of the
eye (nystagmus); absence of an eye (anophthalmia); wide spacing between the
eyes; more than one color within the iris (heterochromia); dislocation of the
lens; crossed eyes (strabismus); and/or exposure of the lining of the eyelid
(ectropion).

Patients with Focal Dermal Hypoplasia may also have a variety of skeletal
abnormalities.  Curvature of the spine, fused vertebrae, underdeveloped or
missing fingers or toes, extra fingers or toes (polydactyly), fingers or toes
that have grown together (syndactyly), fingers that bend to the side
(clinodactyly), permanently bent fingers (camptodactyly), and/or fusion of
bones of the fingers and toes may be present.  Other malformations of the
skeleton may include a small skull, an underdeveloped jaw, a forward
projection of the jaw and/or uneven development of the face, limbs or trunk.

Failure of the teeth to develop properly often occurs in patients with
Focal Dermal Hypoplasia.  The teeth may be missing, underdeveloped, unusually
small or improperly spaced.  Missing enamel may aid in the development of
cavities.

Abnormalities of the gums, tongue, lips, ears, heart and kidneys may also
be present.  Mental retardation can be found in some patients with Focal
Dermal Hypoplasia.

Causes

Focal Dermal Hypoplasia is thought to be inherited as an X-linked dominant
genetic trait.  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 X-linked dominant disorders the female with only one X
chromosome affected will develop the disease.  However, the affected male
always has a more severe form of the condition.  Sometimes affected males die
before birth so that only females patients survive.

Affected Population

It is thought that Focal Dermal Hypoplasia when expressed fully is lethal in
males.  As a result, there have been only 11 males to 150 females observed in
the medical literature.  Focal Dermal Hypoplasia occurs in many areas of the
world.

Related Disorders

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

Ectodermal Dysplasias are a group of hereditary, nonprogressive skin
diseases in which the affected tissue derives primarily from the ectodermal
germ layer.  The skin, it's derivatives, and some other organs are involved.
Symptoms may include eczema, poorly functioning sweat glands, sparse or
absent hair, abnormal hair, disfigured nails, and difficulty with the nasal
passages and ear canals.  (For more information on these disorders, choose
"Ectodermal Dysplasias" as your search term in the Rare Disease Database).

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome is a genetic disorder
which may be characterized by an absence of fingers and/or toes
(ectrodactyly); an absence of tear ducts; cleft lip and/or palate; and sparse
scalp hair, lashes and eyebrows.  This disorder may be inherited through an
autosomal dominant genetic trait.  (For more information on this
disorder, choose "Ectodermal Dysplasias" as your search term in the Rare
Disease Database).

Oculocerebrocutaneous Syndrome is a rare congenital disorder that may
occur for no apparent reason (sporadically) or may be inherited as an
autosomal dominant genetic trait.  Affected individuals may have cysts in the
orbit of the eye, malformations of the brain including cysts in the cavities,
small brown or flesh colored tags of skin in the orbit of the eyes and front
of the ears, skin lesions on the head and trunk as well as seizures.  (For
more information on this disorder, choose "Oculocerebrocutaneous Syndrome" as
your search term in the Rare Disease Database).

Therapies:  Standard

Treatment for patients with Focal Dermal Hypoplasia is directed at the
symptoms.  Dermatological creams may relieve skin discomfort.  Dentures,
hearing aids, etc. may be required.  Heat and overexercise should be
avoided.  Limb deformities may be treated with surgery.

Genetic counseling may be of benefit for patients and their families.

Therapies:  Investigational

The National Institutes of Dental Research in Bethesda, MD, is conducting a
research project to evaluate dental treatment of individuals who have
Ectodermal Dysplasia.  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 food and maintenance of
the bone that supports the denture.  To be eligible to participate in this
study, individuals must have Ectodermal Dysplasia, be missing several teeth,
and be between the ages of twelve and seventy.  A complete oral and dental
examination will be provided to determine if an individual qualifies for the
evaluations for a period of five years.  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]
     [phone]

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 Focal Dermal Hypoplasia, please contact:

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

     National Foundation for Ectodermal Dysplasias
     219 E. Main Street
     Mascoutah, IL  62258
     [phone]

     National Institute of Dental Research (NIDR)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

     The National Arthritis and Musculoskeletal and Skin Diseases Information
     Clearinghouse
     Box AMS
     Bethesda, MD  20892
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     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
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 9th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1990.  Pp. 1592-93.

SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th Ed.:  Kenneth L.
Jones, M.D., Editor; W.B. Saunders Co., 1988.  P. 472.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp.  516-17.

VARIABLE EXPRESSION IN FOCAL DERMAL HYPOPLASIA.  AN EXAMPLE OF DIFFERENT
X-CHROMOSOME INACTIVATION:  M.A. Wechsler, et al.; Am J Dis Child (March,
1988, issue 142(3)).  Pp. 297-300.

FOCAL DERMAL HYPOPLASIA SYNDROME.  CASE REPORT AND LITERATURE REVIEW:
E.H. Hall et al.; J Am Acad Dermatol (September, 1983, issue 9(3)).  Pp.
443-51.

CUTANEOUS DEFECTS OF FOCAL DERMAL HYPOPLASIA:  AN ECTOMESODERMAL DYSPLASIA
SYNDROME:  J.B. Howell et al.; J Cutan Pathol (October, 1989, issue 16(5)).
Pp. 237-58.