Infantile myofibromatosis

Common Name(s)

Infantile myofibromatosis

Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life (summary by {2:Arcangeli and Calista, 2006}). Genetic Heterogeneity of Infantile Myofibromatosis See also IMF2 ({615293}), caused by mutation in the NOTCH3 gene ({600276}).
 

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

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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Stretched and sheared microcatheter retained after onyx embolization of infantile myofibromatosis.
 

Author(s): A S Puri, R Rahbar, J Dearden, R J Graham, C Lillehei, D B Orbach

Journal: Interv Neuroradiol. 2011 Jun;17(2):261-6.

 

We describe a rare neurointerventional complication, namely a stretched and sheared microcatheter, extending 52 cm from its point of retention within an Onyx cast in an infant patient's neck mass, to the groin. The tumor was an unusual manifestation of infantile myofibromatosis and ...

Last Updated: 23 Jun 2011

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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.