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Neurofibromatosis Type 1

Michele Roberts, MD, PhD Reviewed 06/2018
 


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...

DIAGNOSIS

  • NF1 can be diagnosed by routine exam by age 4 years, with attention to skin stigmata; diagnostic criteria include ≥2 of the following (1):

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

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). 

Second Line

  • In...

ONGOING CARE

FOLLOW UP RECOMMENDATIONS

NF1 health supervision 2008 guidelines: 
  • Infancy to 1 year (7)[C]

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

REFERENCES

1
DeBella K, Szudek J, Friedman JM. Use of the National Institutes of Health Criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics.  2000;105(3 Pt 1):608–614. [View Abs...

SEE ALSO

Tuberous Sclerosis Complex; Von Hippel-Lindau Syndrome 

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

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

  • A single café au lait spot is ...

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