Infantile Myofibromatosis

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Infantile Myofibromatosis is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • congenital generalized fibromatosis
  • IM
  • juvenile myofibromatosis

Disorder Subdivisions

  • None

General Discussion

Summary
Infantile myofibromatosis is a rare disorder characterized by the growth of one or more benign (noncancerous) tumors. The skin, bone, muscle, soft tissue, and, in rare cases, the internal organs (viscera) can be affected. The severity and specific symptoms present varies greatly from one person to another based, in part, upon the specific location and number of tumors. These tumors do not spread (metastasize), but can grow large enough to cause symptoms by compressing or damaging nearby organs or other parts of the body. Most cases affect infants or young children, but adult cases have been described in the medical literature. Most cases of infantile myofibromatosis occur randomly for no apparent reason (sporadically). However, familial cases (in which more than one family member is affected) have been identified; two different genes, PDGFRB and NOTCH3, have been determined to cause some of these cases. Treatment depends upon the location of the lesion(s). Spontaneous regression has been reported to occur in many cases; however, recurrence of the lesions has also been reported. Surgery is the main treatment option.

Introduction
Infantile myofibromatosis was first described as a distinct entity in the medical literature in 1954 by Dr. A.P. Stout. The disorder was initially referred to as congenital generalized fibromatosis. Additional cases were reported in the medical literature under a variety of names including multiple congenital fibromatosis, multiple hamartomas, multiple vascular leiomyomatosis of the newborn, and multiple congenital fibromatosis. In 1981, Drs. Chung and Enzinger provided a detailed review of the disorder and introduced the name infantile myofibromatosis.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Internet: http://www.marchofdimes.com

American Cancer Society, Inc.
250 Williams NW St
Ste 6000
Atlanta, GA 30303
USA
Tel: (404)320-3333
Tel: (800)227-2345
TDD: (866)228-4327
Internet: http://www.cancer.org

National Cancer Institute
6116 Executive Blvd Suite 300
Bethesda, MD 20892-8322
USA
Tel: (301)435-3848
Tel: (800)422-6237
TDD: (800)332-8615
Email: cancergovstaff@mail.nih.gov
Internet: http://www.cancer.gov

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Friends of Cancer Research
1800 M Street NW
Suite 1050 South
Washington, DC 22202
Tel: (202)944-6700
Email: info@focr.org
Internet: http://www.focr.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. 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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  11/20/2014
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