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Neurofibromatosis Type 1

Michele Roberts, MD, PhD Reviewed 06/2020
 


BASICS

DESCRIPTION

  • Neurofibromatosis types 1 (NF1) and 2 (NF2) are neurocutaneous syndromes (phakomatoses). Although they share a name, they are unrelated.

    • NF1, the most common of the phakomatoses, is a...

DIAGNOSIS

  • NF1 can be diagnosed by routine exam by age 4 years, with attention to skin stigmata; diagnostic criteria include ≥2 of the following (3):

    • ≥6 café au lait (light brown) macules (CALMs), ≥5 mm...

TREATMENT

MEDICATION

First Line

No specific therapeutic agents; symptoms are treated as they arise (e.g., anticonvulsants for seizures, medications for ADHD, management of blood pressure, vitamin D supp...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

NF1 health supervision 2008 guidelines: 
  • Infancy to 1 year

    • Growth and development: mild short stature, macrocephaly (increased brain volume); aqueductal stenosis/ob...

REFERENCES

1
Gutmann DH, Ferner RE, Listernick RH, et al. Neurofibromatosis Type 1. Nat Rev Dis Primers.  2017;3:17004.
2
Trevisson E, Morbidoni V, Forzan M, et al. The Arg1038Gly missense variant i...

CODES

ICD10

Q85.01 Neurofibromatosis, type 1 

ICD9

237.71 Neurofibromatosis, type 1 [von recklinghausen’s disease] 

SNOMED

  • 92824003 neurofibromatosis, type 1 (disorder)

  • 403815003 Axillary freckling due to n...

CLINICAL PEARLS

  • NF1 manifests marked clinical variability. External stigmata may be subtle or absent in young children. Minimally affected children may become severely affected adults.

  • A single CALM is...

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