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Neurofibromatosis Type 1

Marvin Sineath Jr and Erik C Shaw, Master of Arts in Biomedical Science, Doctor of Osteopathic Medicine Reviewed 06/2022
 


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 is diagnosed based on the presence of clinical features. A diagnosis can be made through routine exam usually by age 4 with special attention to skin stigmata. At least two of the follow...

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 in the ...

SEE ALSO

Tuberous Sclerosis Complex; Von Hippel-Lindau Syndrome 

CODES

ICD10

Q85.01 Neurofibromatosis, type 1 

SNOMED

  • 92824003 neurofibromatosis, type 1 (disorder)

  • 403815003 Axillary freckling due to neurofibromatosis (disorder)

  • 403816002 multiple caf-au-lait macules du...

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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