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Fibromatosis, Congenital Generalized

Synonyms of Fibromatosis, Congenital Generalized

  • CGF
  • Infantile Myofibromatosis (IM)

Disorder Subdivisions

  • Congenital Multiple Fibromatosis

General Discussion

Congenital generalized fibromatosis (CGF) is a pediatric condition that is often now referred to as "infantile myofibromatosis" (IM). It is characterized by the formation of single or multiple noncancerous (benign) tumors that appear to be derived from cells forming certain supporting and binding tissues of the body and involuntary (smooth) muscle. These firm, nodular, potentially locally invasive tumors may involve the skin and underlying (subcutaneous) tissues, muscle tissue, bones, and/or certain internal organs (viscera).

In many cases, the tumors are present at birth (congenital), develop within the first few weeks of life, or may initially become apparent before the age of two years. Following initial growth and multiplication (proliferation) of tumor cells, the tumors usually eventually recede and disappear on their own (spontaneously). Those with solitary or multiple lesions without visceral involvement typically have a benign disease course. However, in infants with severe or widespread involvement of vital internal organs (i.e., multicentric, visceral involvement), potentially life-threatening complications may occur.

Symptoms

A variety of terms have been used to describe this variable condition. As noted above, in many cases, it is now termed "infantile myofibromatosis" (IM), since the tumors appear to be derived from connective tissue and smooth muscle (myofibroblastic) cells. In some instances, the original term "congenital generalized fibromatosis" (CGF) may be used to denote the generalized form of the condition in which multiple fibrous nodules involve internal organs (multicentric, visceral involvement); in addition, the name "congenital multiple fibromatosis" has sometimes been used to describe cases in which multiple lesions involve soft tissues and bone yet not the viscera.

In many affected children, the tumors are present at or shortly after birth or before approximately age two years. In other instances, the condition may become apparent later during childhood. Affected individuals may have solitary or multiple, firm, noncancerous (benign) tumors that involve the skin (cutaneous tissues); underlying (subcutaneous) tissues; muscle; bones; and/or internal organs (viscera). According to reports in the medical literature, solitary lesions may primarily affect soft tissues of the head, neck, and/or trunk region.

Evidence suggests that these fibrous tumors may tend to infiltrate without destroying surrounding tissues. For example, in many affected individuals, the tumors appear to be well-defined (i.e., well-demarcated) nodules, although some growth may occur within regional blood vessels (intravascular growth or vascular channels) in some cases. As noted above, following initial proliferation, the tumors typically regress and eventually spontaneously disappear. Yet, in some instances, new tumor development may occur after long periods.

Individuals with single or multiple tumors without visceral involvement generally have a benign disease course. However, in infants with severe or widespread visceral involvement, the fibrous nodules may significantly compress, obstruct, and impair the functioning of internal organs. Associated symptoms may vary, depending upon the location and extent of organ involvement. However, such findings may include obstruction of the passage of intestinal contents; diarrhea due to widespread intestinal involvement; breathing difficulties due to lung involvement; and/or other abnormalities, resulting in potentially life-threatening complications.

Causes

The exact cause of the condition is unknown. However, in some cases, evidence suggests that the disorder may be inherited as an autosomal recessive or autosomal dominant 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 autosomal recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease but usually will not show symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal (for that particular trait). The risk is the same for each pregnancy.

In autosomal dominant disorders, a single copy of the disease gene (received from either the mother or father) may 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 50 percent for each pregnancy regardless of the sex of the resulting child.

In some cases, the parents of siblings with the disorder have been closely related by blood (consanguineous), suggesting autosomal recessive inheritance. However, according to researchers, the disorder has also occurred in half-siblings (i.e., half-sisters with the same mother) and in successive generations in some families, suggesting autosomal dominant inheritance. Further research is necessary to learn more about the possible genetic mechanisms responsible for the disorder.

Affected Populations

Congenital generalized fibromatosis or infantile myofibromatosis (IM) appears to affect males and females in relatively equal numbers. Since the disorder was originally described in 1954, hundreds of cases have been reported in the medical literature, including several families (kindreds) with more than one affected member.

Some researchers suggest that IM is the most common fibrous tumor of infancy yet may be underdiagnosed since the tumors may not be easily detectable and often spontaneously disappear. Thus, it is difficult to determine the true frequency of the condition in the general population.

Related Disorders

Symptoms of the following disorders may be similar to those of congenital generalized fibromatosis (CGF) or infantile myofibromatosis (IM). Comparisons may be useful for a differential diagnosis:

Other benign or malignant (cancerous) soft tissue or other tumors may superficially resemble the lesions associated with CGF or IM. Therefore, thorough clinical examination, complete patient and family history, imaging techniques, removal (biopsy) and microscopic examination of tumor cells, and/or other diagnostic measures are important in determining specific tumor type.

Neurofibromatosis type 1 (NF-1) is a rare genetic disorder characterized by the formation of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormally decreased or increased coloration (hypo- or hyperpigmentation) of the skin. Areas of abnormal pigmentation typically include pale tan or light brown discolorations (cafe-au-lait spots) on the skin of the trunk and other regions as well as freckling, particularly under the arms (axillary) and in the groin (inguinal) area. Additional abnormalities may include benign tumor-like nodules of the colored regions of the eyes (Lisch nodules); tumors of the nerves that transmit impulses from the retinas to the brain (optic nerves); abnormal curvature of the spine or other skeletal defects; and/or other symptoms and findings. NF-1 may be inherited as an autosomal dominant trait or appear to occur randomly (sporadically) due to new genetic changes (mutations). (For further information, use "neurofibromatosis" as your search term in the Rare Disease Database.)

There are a number of additional syndromes that may be characterized by the formation of single or multiple soft tissue, bony, and/or other tumors that superficially resemble those associated with CGF or IM. However, such syndromes typically may be distinguished by the presence of other characteristic symptoms and physical findings.

Standard Therapies

Diagnosis
CGF or IM may be diagnosed based upon a thorough clinical evaluation; a complete patient and family history; and various specialized tests, such as removal and microscopic examination of tumor cells to confirm the tumor type present. (Biopsy samples are examined by physicians who specialize in analyzing cells and tissues to help obtain accurate diagnosis.) In addition, various specialized imaging tests may be advised to help characterize the nature and extent of tumor involvement. Experts indicate that CGF or IM should be considered during diagnostic evaluation of any infant or young child with solitary or multiple, fibrous tumors.

Treatment
Treatment may require the coordinated efforts of a team of medical professionals, including pediatricians; specialists in the diagnosis and treatment of tumors (medical oncologists); surgeons; and/or other health care professionals. The specific treatment approaches used may depend upon tumor number, size, location, extent, and/or other factors.

As noted above, soft tissue and bony lesions typically undergo spontaneous resolution. However, physicians may recommend complete surgical removal (excision) of a tumor and surrounding margins if vital bodily structures are compromised; in addition, such surgical excision may be advised to help prevent local recurrence. Individuals with the condition should be closely monitored by physicians.

Genetic counseling will be of benefit for affected individuals and their families. Other treatment for this condition is symptomatic and supportive.

Investigational Therapies

For extensive lesions, therapy has included various additional measures, including radiation therapy, hormone therapy with the agent tamoxifen, and the administration of certain chemotherapeutic drugs, such as vincristine and dactinomycin. (During radiation therapy, radiation [via x-rays or other sources of radioactivity] is passed through selected regions of the body to destroy tumor cells and shrink tumors. Radiotherapy is provided in carefully determined doses to help minimize damage to normal body cells.) Further research is necessary to determine the long-term safety and effectiveness of such measures for the treatment of this condition.

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: prpl@cc.nih.gov

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

Fibromatosis, Congenital Generalized Resources

Organizations:

References

TEXTBOOKS
Behrman RE, et al., eds. Nelson Textbook of Pediatrics. 15th ed. Philadelphia, Pa: W.B. Saunders Company; 1996:1477.

REVIEW ARTICLES
Stanford D, Rogers M. Dermatological presentations of infantile myofibromatosis: a review of 27 cases. Australas J Dermatol. 2000;41:156-61.

Giannakopoulou C, Hatzidaki E, Giannakopoulos K, et al. Infantile myofibromatosis: a case study and review of the literature. J Dermatol. 1999;26:595-98.

JOURNAL ARTICLES
Williams W, Craver RD, Correa H, et al. Use of 2-chlorodeoxyadenosine to treat infantile myofibromatosis. J Pediatr Hematal Oncol. 2002;24:59-63.

Hatzidaki E, Korakaki E, Voloudaki A, et al. Infantile myofibromatosis with visceral involvement and complete spontaneous regression. J Dermatol. 2001;28:379-82.

Narchi H. Four half-siblings with infantile myofibromatosis: a case for autosomal-recessive inheritance. Clin Genet. 2001;59:134-35.

Meizner I, Shalev J, Mashiach R, et al. Prenatal ultrasound diagnosis of infantile myofibromatosis. Ultrasound Obstet Gynecol. 2000;16:84-86.

Narchi H, Mudarris F. An infant with multiple soft tissue masses and abnormal radiological bone anomalies. Infantile myofibromatosis. Eur J Pediatr. 2000;159:707-09.

Foss Rd, Ellis GL. Myofibromas and myofibromatosis of the oral region. A clinicopathologic analysis of 79 cases. Oral Surg Oral Med Oral Path Oral Radiol Endod. 2000;89:57-65.

Wiswell TE, et al. Infantile myofibromatosis: the most common fibrous tumor of infancy. J Pediatr Surg. 1988;23:315-18.

FROM THE INTERNET
McKusick VA, ed. Online Mendelian Inheritance in Man, (OMIM) (TM). John Hopkins University, Baltimore, MD. Entry Number: 228550; Last Update 4/5/01.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

Report last updated: 2008/05/27 00:00:00 GMT+0

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