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Old 02-08-2011
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Arrow Test your knowledge #6! (Pathology)

A 32-year old caucasian male presents with a history of headaches and "panic attacks" over the past year. The physical exam reveals hypertension, multiple light brown macules and axillary freckles. Which familiar tumor syndrome is consistent with these findings?
  1. Li-Fraumeni syndrome
  2. Tuberous sclerosis syndrome
  3. Type I neurofibromatosis
  4. Type II neurofibromatosis
  5. Von Hippel-Lindau disease
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Old 02-08-2011
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C. Type I neurofibromatosis
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c.neurofibromatosis type 1
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C) Type I neurofibromatosis

Note: multiple light brown macules and axillary freckles are classical finding in pt with NF type 1. Thanks for sharing your knowledge Mondoshawan.
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NF1, most likely associated with a pheochromocytoma.
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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:

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Figures-, Nervous-System-, Pathology-, Skin-, Step-1-Questions

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