Cafe-au-lait Axilla
Please click to enlarge.
Note what signs you see.
I (W. Wertelecki, M.D.) see a puberal patient, probably a male, a pectus excavatum and a cafe au lait (CAL) fairly large skin spot – I see perhaps other much smaller spots (uncertain).
PERSPECTIVE: Is this image sufficient to diagnose Neurofibromatosis tyep 1 (NF-1)? – NO!
Is this circumstance sufficient to suspect NF-1? – YES!
Is an examination of both parents and siblings indicated? – YES!
Is such a step essential, regardless of any other steps (further examiantions, MRI, DNA analyses, … etc.)? – YES
WHY? – because if any of the 1st degree relatives have signs of NF-1, regardless what studies are performed with “negative” (normal) results, the patient is 99% likely to have a familial sort of NF-1.
