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Neurofibromatosis, type 1
ICD10CM code
#### Name of the Condition
- Neurofibromatosis, type 1 (NF1)
- Also known as von Recklinghausen's disease
#### Summary
Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by the development of multiple, benign tumors called neurofibromas along nerves in the skin, brain, and other parts of the body. These tumors are typically non-cancerous but can cause various complications based on their location and size.
#### Causes
NF1 is caused by mutations in the NF1 gene, which is responsible for producing a protein called neurofibromin that regulates cell growth. The condition is inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene from either parent can lead to the disorder.
#### Risk Factors
- **Genetic Inheritance**: Family history of NF1 significantly increases the risk.
- **Mutations**: Spontaneous mutations account for about 50% of cases where there is no family history.
#### Symptoms
- Café-au-lait spots (light brown skin patches)
- Lisch nodules (small bumps on the iris of the eye)
- Freckling in armpits or groin
- Neurofibromas (soft, benign tumors on or under the skin)
- Skeletal abnormalities such as scoliosis
- Learning disabilities and attention problems
#### Diagnosis
- Clinical evaluation based on visible symptoms and genetic testing to confirm mutations in the NF1 gene.
- Imaging tests (e.g., MRI, CT scans) to identify the presence and impact of tumors.
#### Treatment Options
- **Surgery**: To remove painful or problematic neurofibromas.
- **Medications**: Pain relievers and therapies for complications such as learning disabilities.
- **Therapies**: Physical or occupational therapy for managing physical symptoms and improving quality of life.
- **Regular Monitoring**: Critical to detect new symptoms or complications early.
#### Prognosis and Follow-Up
Many individuals with NF1 live normal lives, but regular follow-up with healthcare providers is vital to manage symptoms and address growths or complications early. Lifelong management may be necessary due to the potential for different complications arising at various stages of life.
#### Complications
- Development of malignant peripheral nerve sheath tumors
- Vision problems due to tumor interference
- Cardiovascular issues caused by blood vessel abnormalities
- Psychological impact, including challenges due to visible symptoms
#### Lifestyle & Prevention
- No known prevention due to genetic nature.
- Regular medical check-ups to monitor growths and complications.
- Supportive care, including psychological support, can help manage various aspects of life with NF1.
#### When to Seek Professional Help
- Sudden increase in size or number of neurofibromas
- Unexplained pain or neurological symptoms
- Changes in vision or hearing
- New symptoms of learning or behavioral issues
#### Additional Resources
- Children’s Tumor Foundation: [www.ctf.org](https://www.ctf.org)
- Neurofibromatosis Network: [www.nfnetwork.org](https://www.nfnetwork.org)
- National Institutes of Health (NIH): [www.nih.gov](https://www.nih.gov)
#### Tips for Medical Coders
- Ensure that the full diagnosis of NF1 is documented in the patient record to accurately code Q85.01.
- Be aware of potential related codes if detailing specific complications arising from NF1.
- Verify that the features diagnosing NF1 are appropriately documented in the patient's medical record, especially when coding new patient cases or familial history discrepancies.