Neurocutaneous Syndromes 02

Topic: Adult

Created on Saturday, February 17 2007 by jdmiles

Last modified on Saturday, February 17 2007.

 
        A) Poliosis
 
        B) Cafe au lait spots
 
        C) Shagreen patches
 
        D) Genetic abnormality on chromosome 22
 
        E) Seizures
 

 

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This question was created on February 17, 2007 by jdmiles.
This question was last modified on February 17, 2007.

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

 

ANSWERS AND EXPLANATIONS

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A) poliosis

This answer is incorrect.

Poliosis (presence of a small patch of white hair) is not characteristic of NF2. It is associated with tuberous sclerosis.  (See References)

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B) cafe au lait spots

This answer is incorrect.

Skin changes, including cafe au lait spots, molluscum fobrosum (cutaneous tumors), and freckling in the axillae and groin, are typical of neurofibromatosis type 1 (NF1), but are not characteristic of NF2.  (See References)

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C) shagreen patches

This answer is incorrect.

Shagreen patches are not characteristic of NF2. They are associated with tuberous sclerosis.  (See References)

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D) genetic abnormality on chromosome 22

This answer is correct.

NF2 is a genetic disorder, with autosomal dominant inheritance. The gene associated with NF2 is on chromosome 22.  (See References)

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E) seizures

This answer is incorrect.

Seizures are a frequent complication of neurofibromatosis type 1 (NF1), but are not characteristic of NF2.  (See References)

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References:

1. Neurofibromatosis Fact Sheet, NINDS. NIH Publication No. 06-2126
2. Victor, M., and Ropper, A.H. (2001). Adams and Victor's Principles of Neurology, 7th Edition. McGraw-Hill, New York. Pp. 1069-1076.
3. Santos, C.C., Miller, V.S., and Roach, E.S. (2004). Neurocutaneous syndromes. In Bradley, W.G., Daroff, R.B., Fenichel, G.M., and Jankovic, J. (Eds.). Neurology in Clinical Practice, 4th Edition. Butterworth Heinemann, Philadelphia. Pp. 1867-1900.

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adult
Neurocutaneous Syndromes 02
Question ID: 021707088
Question written by J. Douglas Miles, (C) 2006-2009, all rights reserved.
Created: 02/17/2007
Modified: 02/17/2007
Estimated Permutations: 491400