Infantile myofibromatosis

Common Name(s)

Infantile myofibromatosis, Congenital generalized fibromatosis, Congenital multicentric fibromatosis

Infantile myofibromatosis (IM) is a genetic condition characterized by benign (non-cancerous) soft tissue tumors that can form on the skin, certain muscles, and more rarely on the bones and internal organs. These hard, painless tumors generally form within the first week of life or are present at birth, although in some cases the tumors appear sometime during the first two years of life. Tumors that can be seen on the skin are generally flesh-colored, but some may appear purple. After the initial growth period, the tumors usually disappear on their own without treatment.

Diagnosis can sometimes be made prenatally (before birth) through an ultrasound but can also be made by physical examination after birth. A family history is a good indicator of congenital generalized fibromatosis. Because the tumors are benign, those that are in the skin and muscles are generally not treated unless they become malignant (cancerous). The recurrence rate in cases without organ (visceral) involvement is low, around 10%. Surgery is required if the tumors are on any of the organs or if they appear more threatening. Nonsurgical treatments are also available. If you have a family history of infantile myofibromatosis, or you think your child may have the condition, you should contact your doctor to schedule an examination and to discuss the most current treatment options.

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Advocacy and Support Organizations

 

Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Infantile myofibromatosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Infantile myofibromatosis" returned 21 free, full-text research articles on human participants. First 3 results:

Kidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report.
 

Author(s): Julie Frezin, Fabio Fusaro, Raymond Reding, Nathalie Godefroid

Journal:

 

We report what we believe to be the first case of a child affected by two rare vascular diseases complicated by kidney failure and successfully treated by kidney transplantation.

Last Updated: 25 Nov 2015

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Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis.
 

Author(s): Natália D Linhares, Maíra C M Freire, Raony G C C L Cardenas, Heloísa B Pena, Magda Bahia, Sergio D J Pena

Journal: Eur J Med Genet. ;57(11-12):643-8.

 

Infantile myofibromatosis (IM) is a rare disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The incidence is 1/150,000 live births and the disease is the most common cause of fibrous tumors in infancy. Cases which lack visceral involvement ...

Last Updated: 3 Dec 2014

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Modulation of expressivity in PDGFRB-related infantile myofibromatosis: a role for PTPRG?
 

Author(s): N D Linhares, M C M Freire, R G C C L Cardenas, M Bahia, E Puzenat, F Aubin, S D J Pena

Journal:

 

Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular pathogenesis is still incompletely known. An autosomal dominant form had been reported as causally related with mutations in ...

Last Updated: 27 Aug 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Infantile myofibromatosis" returned 1 free, full-text review articles on human participants. First 3 results:

Familial occurrence of infantile myofibromatosis.
 

Author(s): M Bracko, L Cindro, R Golouh

Journal: Cancer. 1992 Mar;69(5):1294-9.

 

Two brothers with multicentric infantile myofibromatosis (IM) are reported. In both, tumors were present at birth; the tumors regressed spontaneously, but new lesions developed throughout the follow-up periods of 15 and 8 years. Immunohistochemically, the nodules were found to be ...

Last Updated: 25 Mar 1992

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Symptoms, Diagnosis, and Treatment

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