The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence.

Eur J Med Genet 2017 Jul 9;60(7):353-358. Epub 2017 Mar 9.

Hunter Genetics, Hunter New England Local Health District, PO Box 84, Waratah, NSW, Australia 2298. Electronic address:

Infantile myofibromatosis is characterized by benign myofibroblastic tumors within skin, muscle, bone or viscera which have a characteristic staining pattern on immunohistochemistry. The condition typically presents in infancy and the tumors often disappear by the third year of life. Mutations in the PDGFRB gene and NOTCH3 genes have been identified in familial forms of the condition. We present two families with molecularly confirmed germline mutations in the PDGFRB gene, one demonstrating a phenotype ranging from complete non-penetrance to neonatal lethality; and the other illustrating adult recurrence of the tumors.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2017.02.005DOI Listing
July 2017
13 Reads
1 Citation
1.490 Impact Factor

Publication Analysis

Top Keywords

pdgfrb gene
8
infantile myofibromatosis
8
mutations pdgfrb
8
adult recurrence
8
gene notch3
4
notch3 genes
4
identified familial
4
genes identified
4
life mutations
4
third year
4
typically presents
4
condition typically
4
immunohistochemistry condition
4
presents infancy
4
infancy tumors
4
familial forms
4
disappear third
4
year life
4
condition families
4
non-penetrance neonatal
4

Altmetric Statistics

Similar Publications