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?
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