Martignetti, J.A., Tian, L., Li, D., et al. (2013) Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis. American Journal of Human Genetics, 92, 1001-1007.
https://doi.org/10.1016/j.ajhg.2013.04.024

has been cited by the following article:

• TITLE: Multiple Infantile Myofibromatosis with Skeletal Abnormalities

  AUTHORS: Ibrahim Abdulaziz Hamama, Tariq Alhazmi, Waseemoddin Patel

  KEYWORDS: Infantile Myofibromatosis, Multiple Fibromatous, Skeletal Abnormalities, Clinodactyly, Hallux Valgus Deformity

  JOURNAL NAME: Health, Vol.12 No.7, July 27, 2020

  ABSTRACT: Background: Infantile myofibromatosis is an uncommon disorder characterized by multiple fibromatous tumours involving skin, bone, muscle, viscera and subcutaneous tissue. It is a rare benign mesenchymal tumour; most commonly occurs in infancy or early childhood. The clinical presentation can mimic malignant tumours of infancy or childhood. Case Presentation: We describe a rare case of multicentric Infantile myofibromatosis in a 6-month-old infant presenting with multiple scalp swellings and associated skeletal abnormalities (adducted thumbs, clinodactyly and bilateral hallux valgus deformity of great toes). The case required surgical excision of all scalp lesions and orthopedic manipulation of skeletal abnormalities. Conclusion: Infantile myofibromatosis presenting as multiple lesions in the scalp associated with skeletal abnormalities, is very rare. To best of our knowledge, the unique combination of the distinct skeletal abnormalities in infantile myofibromatosis has not been reported so far. This report emphasizes the possibility of skeletal abnormalities in infantile myofibromatosis.