NEUROFIBROMATOSIS

By Gary M. White, MD

Neurofibromatosis

Multiple neurofibromas and one CALM in a patient with NF-1.


Neurofibromatosis (NF-1) is an inherited neurocutaneous diseases that presents in childhood and is caused by a mutation in the NF-1 gene.

Clinical

In neurofibromatosis type 1, cafe au lait macules (CALM) occur with cutaneous neurofibromas. Two of the following seven criteria are important for diagnosis:

CALM alone are not diagnostic of NF-1 regardless of their size or number. See for example Legius Syndrome.

Multiple JXG lesions are common in children younger than 2 years with NF-1. However, these are transient and spontaneously disappear before the child reaches 5 years in most cases. It is unclear as of yet if JXG in NF-1 constitutes a risk factor for leukemia [JAAD 2014;71;389–390].

In one study, 51% of patients with NF-1 had a nevus anemicus as compared with 2% of control subjects [JAAD 2013:69;768–775].

Diagnosis

Genetic testing should be done to confirm the diagnosis. In young children with multiple CALMs, it may be hard to distinguish NF-1 from Legius Syndrome. Thus, in patients with multiple CALMs (with or without freckling), screening should be done for an NF1 mutation and, if negative, for the SPRED1 mutation of Legius Syndrome.

Treatment

A multidisciplinary approach to treatment is necessary and is beyond the scope of this website. Referral to a neurologist is in order. All family members should be examined. Genetic counseling should be done. As noted above, breast cancer is much more common in women with NF-1.

CO2 laser, dermabrasion or surgical excision of disfiguring facial neurofibromas may be done. Any rapidly growing tumor should be biopsied.

Additional Pictures

Innumerable neurofibromas.
Neurofibromatosis Neurofibromatosis

Neurofibromatosis Neurofibromatosis

Juvenile xanthogranuloma are very common in children 2 years and younger with neurofibromatosis (see discussion above).
Multiple cafe au lait macules in a patient with neurofibromatosis and juvenile xanthogranulomas A juvenile xanthogranuloma i a patient with neurofibromatosis

Axillary freckling is a classic sign of neurofibromatosis.
Axillary freckling in neurofibromatosis Axillary freckling in neurofibromatosis

multiple neurofibromas on the hand in neurofibromatosis (NF-1) multiple neurofibromas in neurofibromatosis (NF-1)

Multiple neurofibromas in the gluteal cleft in an older man with neurofibromatosis. Multiple neurofibromas in the gluteal cleft in an older man with neurofibromatosis

References

Nice article showing how multiple CALM in one patient may either vary in color or have the same shade of brown. From JAAD September 2010 Volume 63, Issue 3, Pages 440–447

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