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Neurofibromatosis in Infant/Neonate
See also in: External and Internal Eye
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Neurofibromatosis in Infant/Neonate

See also in: External and Internal Eye
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Contributors: Craig N. Burkhart MD, Belinda Tan MD, PhD, Dean Morrell MD
Other Resources UpToDate PubMed

Synopsis

The neurofibromatoses comprise several syndromes in which nerves become surrounded by tumors. The most common type is neurofibromatosis type 1 (NF1 or von Recklinghausen disease), an autosomal dominant condition with variable clinical expression.

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.

Codes

ICD10CM:
Q85.01 – Neurofibromatosis, type 1
Q85.02 – Neurofibromatosis, type 2

SNOMEDCT:
19133005 – Neurofibromatosis syndrome

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

The differential diagnosis of NF1 includes the following.

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)
Other conditions with café au lait macules:
  • 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
Many individuals with these disorders will have exhibited manifestations by adolescence / early adulthood with negative button-hole sign.

Conditions with pigmented macules confused with NF1:
Localized overgrowth syndromes:
Conditions causing tumors confused with those seen in NF1:
Note: One or two café au lait macules may commonly be seen in patients unaffected by NF1.

Isolated neurofibromas without neurofibromatosis are also common.

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Therapy

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References

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Last Updated: 10/31/2018
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Neurofibromatosis in Infant/Neonate
See also in: External and Internal Eye
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Neurofibromatosis (Type 1 General Manifestations) : Lisch nodules, Axillary freckles, Smooth papules
Clinical image of Neurofibromatosis
A close-up of pinkish and brownish papules and nodules (neurofibromas) and light brown patches (confetti and café au lait macules).
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