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Which one of the following is not a classical characteristic of neurofibromatosis type 1 (von Recklinghausen's disease)?

A. Café-au-lait spots and cutaneous neurofibromas
B. Bilateral acoustic schwannomas
C. Optic gliomas
D. Lisch nodules
E. Axillary or inguinal freckling

1 Answer

3 votes

Final answer:

The classical characteristic of neurofibromatosis type 1 not included is Bilateral acoustic schwannomas; this is instead characteristic of neurofibromatosis type 2. Neurofibromatosis type 1 includes features like Café-au-lait spots, optic gliomas, Lisch nodules, and freckling, with a 50% inheritance chance per offspring. Therefore, the correct option is B.

Step-by-step explanation:

The classical characteristics of neurofibromatosis type 1 (von Recklinghausen's disease) include Café-au-lait spots, cutaneous neurofibromas, optic gliomas, Lisch nodules (iris hamartomas), and axillary or inguinal freckling. The option that is not a classical characteristic of neurofibromatosis type 1 is B. Bilateral acoustic schwannomas. Bilateral acoustic schwannomas are a hallmark of neurofibromatosis type 2, not type 1. Neurofibromatosis type 1 is a genetic disorder that is characterized by the development of multiple noncancerous (benign) tumors of nerves and skin (neurofibromas) and areas of abnormal skin color (pigmentation). It is typically inherited in an autosomal dominant pattern, where the genotypes Nn (affected) and nn (unaffected) are equally likely to occur, resulting in a 50 percent chance of inheriting the condition for each child of an affected parent.

answered
User Jianru Shi
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