Autosomal dominant inheritance of infantile myofibromatosis

Am J Med Genet A. 2004 Apr 30;126A(3):261-6. doi: 10.1002/ajmg.a.20598.


We present three families with infantile myofibromatosis (IM; OMIM no. 228550) inherited in an autosomal dominant (AD) manner. These three pedigrees prompted re-assessment of pedigrees available within the genetic, oncologic, surgical, and pathologic literature, which suggest autosomal recessive (AR) inheritance. All familial IM may be interpreted as AD or, alternatively, there may be genetic heterogeneity for IM. As most nodules tend to regress spontaneously, familial history may be difficult to obtain and/or confirm. Clinical diagnosis and establishment of inheritance pattern can be important for prognosis and the recognition that other family members may be affected.

Publication types

  • Comparative Study
  • Review

MeSH terms

  • Adult
  • Child, Preschool
  • Female
  • Genes, Dominant*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Myofibromatosis / congenital
  • Myofibromatosis / genetics*
  • Myofibromatosis / pathology
  • Pedigree
  • Phenotype
  • Skin Neoplasms / congenital
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology