Typically diagnosed in early childhood, neurofibromatosis type 1 (NF1) is a rare, progressive, genetic condition impacting multiple body systems characterized by benign tumors called plexiform neurofibromas (PN) that develop along nerve sheaths throughout the body.1,3-5 PN grow rapidly during early childhood, usually during the first decade after birth.3,6
During a child’s early years, the only visible sign may be areas of discoloration or subtle soft tissue overgrowth. Some plexiform tumors may be located so deeply within the body that they go unnoticed until pain or other symptoms become present.2
PN can be large and irregularly shaped, with a tendency to infiltrate beyond the nerve sheath into surrounding layers of tissue. They are often located in surgically challenging areas such as the head, neck, chest, or spine. In addition, PN tend to be overvascularized, which increases the risk of bleeding and the need for transfusion during surgery.2
Disease management is complex and requires a multidisciplinary approach to manage the physical symptoms and challenges that affect pediatric patients and their parents or caregivers.2,7
Potential complications of PNs 3,5,8-10
- Disfigurement
- Motor dysfunction
- Pain
- Airway dysfunction
- Visual impairment
- Bladder & bowel dysfunction
