Autosomal dominant inheritance of infantile myofibromatosis.
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.
Zand
Dina J
DJ
Division of Human and Molecular Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Huff
Dale
D
Everman
David
D
Russell
Karen
K
Saitta
Sulagna
S
McDonald-McGinn
Donna
D
Zackai
Elaine H
EH
D000328:Adult; D002675:Child, Preschool; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D018224:Myofibromatosis / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D010641:Phenotype; D012878:Skin Neoplasms / Q000151:congenital / Q000235:genetics* / Q000473:pathology