NF1 features multiple café-au-lait spots, a hallmark sign. It results from mutations in the NF1 tumor suppressor gene, causing loss of neurofibromin function and dysregulated cell growth. This predisposes to tumors, including pheochromocytoma. Café-au-lait spots + hypertension (especially paroxysmal) should strongly suggest pheochromocytoma and prompt urgent evaluation.
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