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.

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

Infantile myofibromatosis.
 

Author(s): Margarita Larralde, Bruno Ferrari, Juan Pablo Martinez, María Angélica Fernández Barbieri, José Higinio Méndez, José Casas

Journal: An Bras Dermatol. ;92(6):854-857.

 

Infantile myofibromatosis is a mesenchymal disorder characterized by the fibrous proliferation of the skin, bone, muscle and viscera. It is the most common fibrous tumor in childhood. We present a newborn with skin and bone disease without visceral involvement, who showed good response ...

Last Updated: 31 Dec 1969

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Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis.
 

Author(s): Clemence Lepelletier, Yasser Al-Sarraj, Christine Bodemer, Hibbah Shaath, Sylvie Fraitag, Marios Kambouris, Dominique Hamel-Teillac, Hatem El Shanti, Smail Hadj-Rabia

Journal: Acta Derm. Venereol.. 2017 Jul;97(7):858-859.

 

Last Updated: 31 Dec 1969

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Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.
 

Author(s): Peter Mudry, Ondrej Slaby, Jakub Neradil, Jana Soukalova, Kristyna Melicharkova, Ondrej Rohleder, Marta Jezova, Anna Seehofnerova, Elleni Michu, Renata Veselska, Jaroslav Sterba

Journal:

 

Infantile myofibromatosis belongs to a family of soft tissue tumors. The majority of these tumors have benign behavior but resistant and malignant courses are known, namely in tumors with visceral involvement. The standard of care is surgical resection. Observations suggest that low ...

Last Updated: 31 Dec 1969

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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 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.