Neurofibromatosis in Child
Using the National Institutes of Health (NIH) diagnostic criteria simplifies the diagnostic process. When evaluating an infant, it is important to remember that several of the cardinal features of NF1 have age-related penetrance, and, therefore, many young children will need to be followed over time to make a clinical diagnosis. By age 11, 95% of children can be diagnosed by clinical criteria alone.
Q85.01 – Neurofibromatosis, type 1
Q85.02 – Neurofibromatosis, type 2
19133005 – Neurofibromatosis syndrome
Other forms of neurofibromatosis:
- Segmental / mosaic NF1
- Watson syndrome (a subset of neurofibromatosis associated with pulmonic stenosis)
- Autosomal dominant café au lait macules – no other findings of NF1
- Autosomal dominant multiple café au lait macules alone (some allelic with NF1)
- Neurofibromatosis type 2 (skin schwannomas may be an early but rare sign of NF2)
- Schwannomatosis (disorder associated with mutation in the gene INI1)
- McCune-Albright syndrome – premature puberty, bony abnormalities, and a few large café au lait macules with an irregular outline. In NF1, the outline of the café au lait macule is smooth.
- Genetic disorders of DNA repair or chromosomal instability
- Homozygosity for one of the genes causing hereditary nonpolyposis
- Cancer of the colon
- Noonan syndrome
Conditions with pigmented macules confused with NF1:
- Lipomatosis (see lipoma)
- Bannayan-Riley-Ruvalcaba syndrome
- Multiple endocrine neoplasia type 1 (MEN1) and 2B (MEN2B)
Isolated neurofibromas without neurofibromatosis are also common.