Correct! The answer is C: Type I neurofibromatosis
. The light brown maculae are café-au-lait spots, and the palpitations and hypertension are suggestive of a pheochromocytoma, to which NF1 patients have a greater susceptibility.
- Type II neurofibromatosis is not associated with significant dermatological findings, with an increased tendency toward meningiomas and bilateral acoustic neuroma.
- Tuberous sclerosis syndrome does present with hamartomas in the eye and elsewhere, but usually with hypomelanic maculae (white patches) rather than hypermelanic maculae (brown patches).
- Von Hippel-Lindau disease may, like NF1, predispose to a pheochromocytoma that produces hypertension; however, the skin color changes are not typical of VHL. Physical findings in Li-Fraumeni syndrome would be secondary to any number of the many types of cancer to which the L-F sufferer is prone due to their altered p53 gene.
- Other possible causes of café-au-lait spots are Legius syndrone, McCune-Albright syndrome, and Fanconi anemia.
Some images of café-au-lait spots and axillary freckling: