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A 28-year-old female asked:

Baby was born with a small (5mm) cafe au lait spot. looks like he's getting another one but he's 1 year now. i have two small ones. could this be nf1?

3 doctor answers6 doctors weighed in
Dr. James Ferguson
Pediatrics 47 years experience
Common finding: We usually don't consider the issue of neurofibromatosis in infants unless we start seeing 6 or more hyper pigmented spots around a centimeter or more in size. A few , even if larger are a common finding on normal kids.Your two small spots as an adult does not qualify you as carrying the gene.
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Dr. Irina Kovatch
Surgery 15 years experience
Cafe-au-lait spots: (cals) appear during the 1st year after birth and usually increase in number during early childhood. Up to 25% of the normal population will have 1-3 cals. However, the presence of 6 or more cals is highly suggestive of nf1. In a child with a negative family history and no other diagnostic features, cals alone are insufficient to make a diagnosis of nf1. Close observation vs. Genetic testing.
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Dr. Gerald Mandell
Nuclear Medicine 53 years experience
Some findings in nf1: Symptoms of nf1, which may be evident at birth and nearly always by the time the child is 10 years old, pigmented, light brown spots, six or more measuring 5 mm in greatest diameter in prepubertal individuals and over 15 mm in greatest diameter in postpubertal individuals. These are criteria for skin lesions and nf1. Armpit freckling, iris lesions, skin and subcut nodules some other findings
Created for people with ongoing healthcare needs but benefits everyone.
Last updated Aug 12, 2014

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