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Acoustic Neurofibromatosis

Neurofibromatosis is a genetic disorder that causes tumors to grow along certain types of nerves, and also affects the development of non-nervous tissues like bones and skin. It is possible that Joseph Merrick, the Elephant Man, was afflicted with this, probably in combination with another syndrome called Proteus syndrome.

In acoustic neurofibromatosis, the tumors grow along the auditory nerves, causing deafness either at birth or at a very young age. Café au lait spots suggest this condition may exist, as do skeletal abnormalities, peculiar freckling in regions that are normally evenly pigmented (like the armpit) and a predisposition to tumors. Those with acoustic neurofibromatosis may also have headaches, balance problems, vertigo, facial weakness or paralysis, and even brain tumors. In almost every case, the acoustic neuromas are bilateral, causing total deafness.

Acoustic neurofibromatosis may be inherited. It is a dominant trait, so at least half of a subject’s children are likely to have it. In about half of all cases, it occurs in random mutations. It is also a gene that expresses strongly, so it is easy to catch when multiple members of a family have it.

Web Resources On Acoustic Neurofibromatosis

Appearance of Skin and Signs of Neurofibromatosis
Bilateral Acoustic Neurofibromatosis

Book Resources On Acoustic Neurofibromatosis

Neurofibromatosis: Phenotype, Natural History, and Pathogenesis by Friedman et. al.
Neurofibromatosis Type I in Childhood by Kathryn North et. al.

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