Tuesday, November 15, 2005

? Segmental Neurofibromatosis

The patient is a three year-old girl with 2 cafe au lait spots on right arm and chest since she was a few months old and many small "freckles" on right chest and axilla (see photo). There are a few freckles on the right upper back as well. No pigmented lesions on any other area. Have not looked for Lisch nodules yet.

Athough it may be too early to tell, I suspect this is segmental neurofibromatosis. Most cases of segmental NF are diagnosed because of tumors. There are probably some that only manifest as CLS or freckling. Of course, we will have to wait years in this case to see what develops.

Does anyone have ideas as to wha to tell the parents?


  1. Hopefully this is an isolated finding that is not part of the systemic syndrome. Lisch nodule exam is specific and so would send to Ophtho for slit lamp exam. I would encourage the family to follow up with the dermatologist regularly, and also to be aware of any other associated signs.

    NF is a syndrome with well-defined criteria, and so one may just have to wait until sufficient criteria are met to discuss the diagnosis with family in more detail.

  2. Agree with Ben.

  3. I would also agree with Ben.



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