Cafe-au-lait spots may be a normal type of birthmark, but the presence of several cafe-au-lait spots larger than a quarter may occur in neurofibromatosis (a genetic disorder that causes abnormal .
Cafe-au-lait spots and increased pigmentation of the hands, feet, and circumoral areas are frequently present. Many patients have dysmorphic features suggestive of Marfan syndrome including a typical habitus, pectus excavatum, scoliosis, and pes cavus. Proximal myopathy and peripheral neuropathy are sometimes seen.
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