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$Unique_ID{BRK03960}
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$Title{Maffucci Syndrome}
$Subject{Maffucci Syndrome Multiple Angiomas and Endochondromas
Dyschondrodysplasia with Hemangiomas Enchondromatosis with Multiple Cavernous
Hemangiomas Kast Syndrome Hemangiomatosis Chondrodystrophica Ollier Disease
Klippel-Trenaunay-Weber Syndrome Blue Rubber Bleb Nevus Syndrome }
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Copyright (C) 1988, 1990 National Organization for Rare Disorders, Inc.

433:
Maffucci Syndrome

** IMPORTANT **
It is possible the main title of the article (Maffucci Syndrome) is not
the name you expected.  Please check the SYNONYMS listing on the next page to
find alternate names, disorder subdivisions, and related disorders covered by
this article.

Synonyms

     Multiple Angiomas and Endochondromas
     Dyschondrodysplasia with Hemangiomas
     Enchondromatosis with Multiple Cavernous Hemangiomas
     Kast Syndrome
     Hemangiomatosis Chondrodystrophica

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

     Ollier Disease
     Klippel-Trenaunay-Weber Syndrome
     Blue Rubber Bleb Nevus 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.

Maffucci Syndrome is a rare congenital disorder characterized by multiple
benign skin and bone lesions which in some cases, may be progressive.  The
lesions appear at birth or shortly thereafter, but may not become evident for
several years.

Symptoms

Maffucci Syndrome is marked by benign growths on the skin, cartilage and/or
bones.  Twenty-five percent of patients exhibit lesions during the first year
of life while seventy-eight percent experience symptoms before puberty.  Some
of the more commonly associated vascular lesions are:

1)  Large growths containing blood-filled spaces due to dilation and
thickening of the walls of the capillary loops (cavernous hemangiomas)

2)  Small thick masses of capillaries (capillary hemangiomas)

3)  Dilation of the veins (phlebectasia)

Growths of dilated lymph vessels (lymphangiomas) and Blue Rubber Bleb
Nevus Syndrome may also occur in conjunction with this disorder.  Calcium
deposits in veins (phleboliths) are usually found within vascular lesions and
may be seen on radiographs.  The location of the sites of skin lesions does
not necessarily correspond with bone lesions.  There may also be lesions of
the esophagus, third portion of the small intestine (ileum), and anal mucous
membranes.  Lesions in the mucous membranes of the mouth and throat (oral
mucosa) are common.  These lesions often persist.

The long bones are affected by abnormal growth of cartilage in the
midsection (dyschondroplasia) due to a defect in the bone hardening process
(endochondral ossification).  During early childhood, cartilaginous tumors
(endochondromas) may develop in the small bones of the hands and feet, as
well.   Skin lesions are firm, fixed, easily palpable nodules that occur on
only one side of the body in approximately forty-eight percent of patients.
They do not correspond in size if they occur on both sides of the body.

Patients are usually short in stature, with thirty-six percent showing
significant discrepancies between the length of both legs, often causing
curvature of the spine (scoliosis).  The bones tend to fracture easily.
Occasionally, the internal lesions may ulcerate causing pain from pressure on
nerves and blood vessels.

Twenty-five to thirty percent of patients with Maffucci's Syndrome
develop associated malignancies especially chondrosarcomas.  These
malignancies develop from bone and soft-tissue lesions.  Other malignant
connective tissue neoplasms including fibrosarcomas, angiosarcomas,
lymphangiosarcomas, interstitial tissue cell tumors (gliomas), embryonic
tissue cell (mesenchymal) ovarian tumors, and pancreatic adenocarcinomas have
also been described.

Causes

The exact cause of Maffucci Syndrome is not known, although it is thought to
be inherited as an autosomal 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 normal gene and
resulting in appearance of the disease.  The risk of transmitting the
disorder from affected parent to offspring is 50% for each pregnancy
regardless of the sex of the resulting child.)

Affected Population

Maffucci Syndrome is a very rare disorder affecting males and females in
equal numbers.  Less than 105 cases have been documented in the medical
literature in the United States since this disorder was first identified in
1881.

Related Disorders

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

Ollier Disease is a rare abnormal development of the bones (skeletal
dysplasia) usually beginning in childhood.  The disease affects bones and
cartilage in joints of the arms and legs.  Dwarfism can occur when both sides
of the body are affected.  Pain usually occurs only when bones fracture.
(For more information on this disorder, choose "Ollier" as your search term
in the Rare Disease Database).

Klippel-Trenaunay-Weber Syndrome is a blood vessel disorder combining
Nevus Flammeus (a birth mark that is the color of a Port Wine Stain),
excessive growth of soft tissue and bone, and varicose veins.  Cases range
from mild to severe with a variety of complications possible.  Onset usually
occurs before birth or during early childhood.   (For more information on
this disorder, choose "Klippel Syndrome" as your search term in the Rare
Disease Database).

Blue Rubber Bleb Nevus Syndrome is a genetic blood vessel disorder
characterized by benign growths in the skin and gastrointestinal tract that
are present at birth.  The growths in the skin are usually elevated, blue or
purplish-red in color, and contain thin-walled sacs that are easily
compressed.  Other skin lesions may be large, disfiguring, and irregular in
size with blue spots (macules), or black dots that merge with normal skin.
Additional lesions may develop with age.

Therapies:  Standard

Maffucci Syndrome should be treated on an individual basis due to the wide
variety of possible symptoms.  The discrepancies in leg length, curvature of
the spine (scoliosis), and bone deformities may improve with orthopedic
treatment or surgery.  Reconstructive surgery may remove or reduce the size
of large hemangiomas or lymphangiomas.  The malignant neoplasms may be
treated by surgery, radiation, chemotherapy, or a combination of these
therapies.

Therapies:  Investigational

This disease entry is based upon medical information available through March
1990.  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 Maffucci Syndrome, please contact:

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

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

     NIH/National Heart, Lung and Blood Institute (NHLBI)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]

     American Cancer Society
     1599 Clifton Rd., NE
     Atlanta, GA  30329
     [phone]

     NIH/National Cancer Institute
     9000 Rockville Pike, Bldg. 31, Rm. 1A2A
     Bethesda, MD 20892
     1-800-4-CANCER

The National Cancer Institute has developed PDQ (Physician Data Query), a
computerized database designed to give doctors quick and easy access to many
types of information vital to treating patients with many types of cancer.
To gain access to this service, a doctor can contact the Cancer Information
Service offices at 1-800-4-CANCER.  Information specialists at this toll-free
number can answer questions about cancer prevention, diagnosis, and
treatment.

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

ENCHONDROMATOSIS WITH HEMANGIOMAS (MAFFUCCI'S SYNDROME):  E. Gutman, et al.;
South Med J (April 1978, issue 71(4)).  Pp. 466-467.

CHONDROSARCOMA IN MAFFUCCI'S SYNDROME:  T.C. Sun, et al.; J Bone Joint
Surg [Am] October 1985, issue 67(8)).  Pp. 1214-1219.

ANGIOSARCOMA ARISING IN A PATIENT WITH MAFFUCCI SYNDROME:  T.I.
Davidson, et al.; Eur J Surg Oncol (December 1985, issue 11(4)).  Pp. 381-
384.