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

 

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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 18 free, full-text research articles on human participants. First 3 results:

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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Mutations in PDGFRB cause autosomal-dominant infantile myofibromatosis.
 

Author(s): John A Martignetti, Lifeng Tian, Dong Li, Maria Celeste M Ramirez, Olga Camacho-Vanegas, Sandra Catalina Camacho, Yiran Guo, Dina J Zand, Audrey M Bernstein, Sandra K Masur, Cecilia E Kim, Frederick G Otieno, Cuiping Hou, Nada Abdel-Magid, Ben Tweddale, Denise Metry, Jean-Christophe Fournet, Eniko Papp, Elizabeth W McPherson, Carrie Zabel, Guy Vaksmann, Cyril Morisot, Brendan Keating, Patrick M Sleiman, Jeffrey A Cleveland, David B Everman, Elaine Zackai, Hakon Hakonarson

Journal: Am. J. Hum. Genet.. 2013 Jun;92(6):1001-7.

 

Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an autosomal-dominant (AD) inheritance ...

Last Updated: 19 Nov 2013

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A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
 

Author(s): Yee Him Cheung, Tenzin Gayden, Philippe M Campeau, Charles A LeDuc, Donna Russo, Van-Hung Nguyen, Jiancheng Guo, Ming Qi, Yanfang Guan, Steffen Albrecht, Brenda Moroz, Karen W Eldin, James T Lu, Jeremy Schwartzentruber, David Malkin, Albert M Berghuis, Sherif Emil, Richard A Gibbs, David L Burk, Megan Vanstone, Brendan H Lee, David Orchard, Kym M Boycott, Wendy K Chung, Nada Jabado

Journal: Am. J. Hum. Genet.. 2013 Jun;92(6):996-1000.

 

Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whole-exome sequencing, RNA sequencing, and targeted sequencing, we investigated germline and tumor DNA in individuals from four distinct families with the familial ...

Last Updated: 19 Nov 2013

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Reviews from the PubMed Database

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The terms "Infantile myofibromatosis" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.