From the Guidelines
Neurofibromatosis 1 (NF1) is a genetic disorder that presents with a range of symptoms, including multiple café-au-lait spots, neurofibromas, freckling in the armpits or groin area, Lisch nodules, skeletal abnormalities, learning disabilities, and optic gliomas, and requires regular monitoring and screening for potential complications, such as malignant peripheral nerve sheath tumors (MPNST) and pheochromocytoma, as recommended by the most recent guidelines 1.
Common Symptoms of NF1
The most common signs of NF1 include:
- Multiple café-au-lait spots, which are light brown patches on the skin that usually appear during early childhood
- Neurofibromas, which are benign tumors that grow on nerves throughout the body, appearing as soft bumps under or on the skin
- Freckling in the armpits or groin area (axillary or inguinal freckling)
- Lisch nodules, which are small, harmless growths on the iris of the eye that don't affect vision
- Skeletal abnormalities, such as scoliosis, bowing of the legs, or a distinctive larger head size
Screening and Monitoring Recommendations
According to the most recent guidelines 1, patients with NF1 should undergo regular screening and monitoring for potential complications, including:
- Visual assessment and optic coherence tomography for optic gliomas, starting at 6-8 months of age
- Whole-body MRI (WBMRI) for MPNST, starting in late adolescence or early adulthood
- Blood pressure monitoring for pheochromocytoma, starting at birth or diagnosis
- Regular physical examinations and screenings for other potential complications, such as leukemia and non-OPG brain tumors
Importance of Specialized Care
It is essential for patients with NF1 to receive care from a specialized NF1 clinic, which can provide comprehensive and coordinated care, as well as access to the latest research and treatment options 1. Regular monitoring and screening can help identify potential complications early, improving outcomes and quality of life for patients with NF1.
From the Research
Neurofibromatosis 1 Symptoms
- Café-au-lait spots, axillary and inguinal freckling, multiple cutaneous neurofibromas, and iris Lisch nodules are common symptoms of Neurofibromatosis 1 2
- Learning disabilities are present in at least 50% of individuals with Neurofibromatosis 1 2
- Less common but potentially more serious manifestations include:
- Plexiform neurofibromas
- Optic nerve and other central nervous system gliomas
- Malignant peripheral nerve sheath tumors
- Scoliosis
- Tibial dysplasia
- Vasculopathy 2
- Cutaneous manifestations such as café-au-lait macules, intertriginous skin freckling, and neurofibromas are also characteristic of Neurofibromatosis type 1 3, 4, 5
- Cardinal features of Neurofibromatosis type 1 comprise café-au-lait macules, axillary/inguinal freckling, cutaneous neurofibromas, plexiform neurofibromas, and optic-pathway gliomas 6
Diagnosis and Management
- The diagnosis of Neurofibromatosis 1 is usually based on clinical findings 2
- Molecular genetic testing is available clinically but is infrequently needed for diagnosis 2
- Disease management includes referral to specialists for treatment of complications involving the eye, central or peripheral nervous system, cardiovascular system, spine, or long bones 2
- Annual physical examination by a physician familiar with the disorder is recommended 2
- Other recommendations include ophthalmologic examinations annually in children and less frequently in adults, regular developmental assessment in children, regular blood pressure monitoring, and magnetic resonance imaging for follow-up of clinically suspected intracranial and other internal tumors 2