A 14-year-old Caucasian adolescent presents to your office for the evaluation of an 'annoying' spot on his face. Physical examination reveals a hypopigmented spot on his chin that is about 2 cm in diameter. Similar spots are present on his right shoulder, chest, and back. His past medical history is insignificant. His family history is significant for a father and an aunt with bilateral deafness. Which of the following is the most probable diagnosis in this patient?

Question

A 14-year-old Caucasian adolescent presents to your office for the evaluation of an 'annoying' spot on his face.  Physical examination reveals a hypopigmented spot on his chin that is about 2 cm in diameter.  Similar spots are present on his right shoulder, chest, and back.  His past medical history is insignificant.  His family history is significant for a father and an aunt with bilateral deafness.  Which of the following is the most probable diagnosis in this patient?

Quizplus · Accepted Answer

Explanation: Hypopigmented spots, in combination with a family history of bilateral deafness, strongly suggest neurofibromatosis type 2 (NF-2), an autosomal-dominant disorder. The spots described actually represent cafe-au-lait spots that are usually hypopigmented (unlike the hyperpigmented cafe-au-lait spots found in NF-1). Deafness is caused by bilateral acoustic neuromas, a characteristic neurologic manifestation of the syndrome. (Choice A)NF-1 may also present with an acoustic neuroma (typically unilateral), but cutaneous neurofibromas, axillary freckling, and other symptoms are usually present. (Choice C) Tuberous sclerosis is characterized by congenital hypopigmented maculae (ash-leaf spots), glial proliferation, and several organ hamartomas/cysts. Bilateral deafness is not typical. (Choice D) Sturge-Weber syndrome manifests as a facial port-wine stain and leptomeningeal angiomatosis. (Choice E)Osler-Rendu-Weber syndrome is characterized by multiple telangiectasias and vascular lesions of the CNS. Educational Objective: Hypopigmented spots, in combination with a family history of bilateral deafness, strongly suggest neurofibromatosis type 2 (NF-2).

A 14-Year-Old Caucasian Adolescent Presents to Your Office for the Evaluation